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 CKMT1A 548596 broad.mit.edu 37 15 43991229 43991229 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr15:43991229G>A ENST00000413453.2 + 9 1720 c.1196G>A c.(1195-1197)cGt>cAt p.R399H CKMT1A_ENST00000434505.1_Missense_Mutation_p.R399H|STRC_ENST00000541030.1_Intron P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A 399 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TGTGAACGGCGTCTGGAGAGA 0.493000 6 137 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684757 100684757 + Missense_Mutation SNP A A T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr7:100684757A>T ENST00000306151.4 + 3 10124 c.10060A>T c.(10060-10062)Agt>Tgt p.S3354C NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3354 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCCAGTGGTCAGTTCTGAGGC 0.483000 30 456 0 0 1 0 0 TEDDM1 127670 broad.mit.edu 37 1 182369551 182369551 + Missense_Mutation SNP A A G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr1:182369551A>G ENST00000367565.1 - 1 200 c.70T>C c.(70-72)Tgg>Cgg p.W24R NM_172000.3 NP_741997.3 Q5T9Z0 TEDM1_HUMAN transmembrane epididymal protein 1 24 integral to membrane haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2) 7 GCTATTTTCCACAGCCTGGCA 0.463000 6 95 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94069684 94069684 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr14:94069684G>A ENST00000553484.1 + 26 3828 c.3674G>A c.(3673-3675)cGt>cAt p.R1225H UNC79_ENST00000555664.1_Missense_Mutation_p.R1225H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1048H|UNC79_ENST00000393151.2_Missense_Mutation_p.R1225H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1225 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AAGAGTGTACGTTCCCTGAGG 0.527000 5 73 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119936434 119936434 + Nonsense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr1:119936434C>T ENST00000361035.4 + 9 1349 c.1066C>T c.(1066-1068)Cga>Tga p.R356* HAO2_ENST00000325945.3_Nonsense_Mutation_p.R343*|HAO2_ENST00000482991.1_3'UTR NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 343 fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TGAGATCAATCGAAACTTGGT 0.478000 5 118 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1877527 1877527 + Silent SNP A A T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr8:1877527A>T ENST00000518288.1 + 26 3232 c.3069A>T c.(3067-3069)acA>acT p.T1023T ARHGEF10_ENST00000349830.3_Silent_p.T999T|ARHGEF10_ENST00000262112.6_Silent_p.T995T|ARHGEF10_ENST00000398564.1_Silent_p.T1024T|ARHGEF10_ENST00000520359.1_Silent_p.T961T O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1024 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) AGAAGTCCACAGTCATGAGCC 0.517000 4 169 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13655525 13655525 + Silent SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr3:13655525C>T ENST00000404922.3 + 5 1709 c.1590C>T c.(1588-1590)gcC>gcT p.A530A FBLN2_ENST00000535798.1_Silent_p.A556A|FBLN2_ENST00000295760.7_Silent_p.A530A|FBLN2_ENST00000492059.1_Silent_p.A530A NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 530 Anaphylatoxin-like 3. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCGTGCGGGCCGAGGGCCAGT 0.597000 13 36 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr3:195515449A>T ENST00000463781.3 - 2 3461 c.3002T>A c.(3001-3003)gTa>gAa p.V1001E MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1006 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V1001A(1)|p.V1001E(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587000 3 9 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51418833 51418833 + Missense_Mutation SNP A A C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr3:51418833A>C ENST00000266037.9 + 53 5959 c.5936A>C c.(5935-5937)cAc>cCc p.H1979P NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1979 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding p.H1979P(1) breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AAGCCCTACCACCCCCGCCTG 0.692000 15 11 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159385 39159385 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr6:39159385G>A ENST00000359534.3 - 5 1119 c.781C>T c.(781-783)Cgg>Tgg p.R261W NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 261 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 TTCCGTCGCCGCCGCCGCTTC 0.572000 4 175 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 10274071 10274071 + Silent SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr16:10274071G>A ENST00000396573.2 - 3 507 c.198C>T c.(196-198)gaC>gaT p.D66D GRIN2A_ENST00000404927.2_Silent_p.D66D|GRIN2A_ENST00000330684.3_Silent_p.D66D|GRIN2A_ENST00000562109.1_Silent_p.D66D|GRIN2A_ENST00000396575.2_Silent_p.D66D NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 66 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCACGTTCACGTCCAGGGGCA 0.642000 10 154 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17519815 17519815 + Missense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr11:17519815C>T ENST00000005226.7 - 24 2383 c.2384G>A c.(2383-2385)gGc>gAc p.G795D USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.G464D|USH1C_ENST00000527020.1_Missense_Mutation_p.G476D|USH1C_ENST00000318024.4_Missense_Mutation_p.G495D NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 495 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 TTTCACAATGCCACCTGCAGG 0.577000 4 101 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25468913 25468913 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr2:25468913G>A ENST00000264709.3 - 12 1787 c.1450C>T c.(1450-1452)Cgg>Tgg p.R484W DNMT3A_ENST00000380746.4_Missense_Mutation_p.R295W|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R261W|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R484W NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 484 ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTTCTGCCGCACCTCGTAC 0.617000 """Mis, F, N, S""" AML 4 93 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34646897 34646897 + Silent SNP C C A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr15:34646897C>A ENST00000537011.1 + 6 1708 c.1326C>A c.(1324-1326)atC>atA p.I442I NUTM1_ENST00000438749.3_Silent_p.I432I|NUTM1_ENST00000333756.4_Silent_p.I414I NUT midline carcinoma, family member 1 TGAGCTACATCAATGAGCTGT 0.527000 10 158 7.03913e-09 7.3245e-09 1 1 0 FLT4 2324 broad.mit.edu 37 5 180056949 180056949 + Missense_Mutation SNP T T A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr5:180056949T>A ENST00000261937.6 - 5 748 c.670A>T c.(670-672)Atc>Ttc p.I224F FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.I224F|FLT4_ENST00000393347.3_Missense_Mutation_p.I224F NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 224 Ig-like C2-type 3. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TTACCTGTGATGTGCACCAGG 0.622000 4 61 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 3 15 0 0 1 0 0 S1PR3 1903 broad.mit.edu 37 9 91616909 91616909 + Missense_Mutation SNP T T C rs145125543 byFrequency TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr9:91616909T>C ENST00000375846.3 + 1 5489 c.794T>C c.(793-795)aTt>aCt p.I265T S1PR3_ENST00000358157.2_Missense_Mutation_p.I265T Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 265 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity p.I265T(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 CTCTTCCTCATTGATGTGGCC 0.587000 4 57 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 3 52 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5672710 5672710 + Missense_Mutation SNP G G C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr12:5672710G>C ENST00000546188.1 - 26 2826 c.2755C>G c.(2755-2757)Ctc>Gtc p.L919V ANO2_ENST00000327087.8_Missense_Mutation_p.L918V|ANO2_ENST00000356134.5_Missense_Mutation_p.L919V Q9NQ90 ANO2_HUMAN anoctamin 2 923 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CAGTCCACGAGGACGCTCAGG 0.552000 9 121 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75183769 75183769 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr15:75183769G>A ENST00000352410.4 + 3 261 c.194G>A c.(193-195)cGc>cAc p.R65H MPI_ENST00000564003.1_Missense_Mutation_p.R15H|MPI_ENST00000323744.6_Missense_Mutation_p.R65H|MPI_ENST00000563786.1_Missense_Mutation_p.R45H|MPI_ENST00000565576.1_Missense_Mutation_p.R65H|MPI_ENST00000566377.1_Missense_Mutation_p.R65H|MPI_ENST00000535694.1_Missense_Mutation_p.R15H|MPI_ENST00000563422.1_Missense_Mutation_p.R65H|MPI_ENST00000562606.1_Missense_Mutation_p.R45H P34949 MPI_HUMAN mannose phosphate isomerase 65 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CTTGACAACCGCATCTCACAG 0.552000 4 156 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150553856 150553856 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr7:150553856G>A ENST00000493429.1 + 4 882 c.298G>A c.(298-300)Gtc>Atc p.V100I AOC1_ENST00000467291.1_Missense_Mutation_p.V100I|AOC1_ENST00000360937.4_Missense_Mutation_p.V100I|AOC1_ENST00000416793.2_Missense_Mutation_p.V100I amine oxidase, copper containing 1 AGCCCGTGCCGTCATCTTCTT 0.582000 48 80 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32756257 32756257 + Missense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr22:32756257C>T ENST00000249007.4 + 2 597 c.392C>T c.(391-393)gCc>gTc p.A131V RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.A102V|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.A102V NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 131 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 ACCTTGGATGCCGACACAGCC 0.502000 4 127 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132548972 132548972 + Missense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chrX:132548972C>T ENST00000370828.3 - 1 546 c.22G>A c.(22-24)Gcg>Acg p.A8T NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 8 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) CAGAGAAGCGCGGGCAAGCCG 0.687000 5 56 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69125432 69125432 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr12:69125432G>A ENST00000229179.4 + 22 2263 c.1931G>A c.(1930-1932)cGa>cAa p.R644Q NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 644 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GAGAATATTCGAAAGAAAGAT 0.353000 4 47 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 60 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26861989 26861989 + Missense_Mutation SNP C C A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr17:26861989C>A ENST00000226247.2 + 7 1429 c.1400C>A c.(1399-1401)cCc>cAc p.P467H FOXN1_ENST00000579795.1_Missense_Mutation_p.P467H NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 467 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CCTCCTGGACCCCCGCAGCCA 0.677000 8 69 0.000157383 0.000159454 1 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51628473 51628473 + Missense_Mutation SNP G G A rs151265101 TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr19:51628473G>A ENST00000440804.3 + 1 309 c.242G>A c.(241-243)cGg>cAg p.R81Q SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R81Q NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 81 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AACCCAGCTCGGGCAGTGTGG 0.572000 26 67 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961355 34961355 + Missense_Mutation SNP A A G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chrX:34961355A>G ENST00000329357.5 + 1 443 c.407A>G c.(406-408)aAt>aGt p.N136S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 136 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 ATGTACCCCAATCTGGGAAAA 0.567000 8 77 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79059482 79059482 + Missense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr17:79059482C>T ENST00000321300.6 + 5 401 c.308C>T c.(307-309)aCg>aTg p.T103M BAIAP2_ENST00000321280.7_Missense_Mutation_p.T103M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.T103M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Missense_Mutation_p.T25M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.T103M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.T136M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.T103M NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 103 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GAGCTGCTTACGCAGCTGGAG 0.602000 4 72 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13363258 13363258 + Missense_Mutation SNP G G C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr3:13363258G>C ENST00000254508.5 - 36 5075 c.4993C>G c.(4993-4995)Ctg>Gtg p.L1665V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1665 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CTGACCACCAGAGCTGTCTTC 0.582000 72 175 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 5 21 0 0 1 0 0 CIB1 10519 broad.mit.edu 37 15 90775542 90775542 + Missense_Mutation SNP C C A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr15:90775542C>A ENST00000328649.6 - 3 265 c.104G>T c.(103-105)tGt>tTt p.C35F NM_006384.3 NP_006375.2 Q99828 CIB1_HUMAN calcium and integrin binding 1 (calmyrin) 35 apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding lung(1)|prostate(1) 2 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AAGCAGCTCACAAAACCGCCT 0.587000 6 38 6.53348e-20 6.89148e-20 1 1 0 ZNF280C 55609 broad.mit.edu 37 X 129354401 129354401 + Missense_Mutation SNP C C G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chrX:129354401C>G ENST00000370978.4 - 13 1602 c.1449G>C c.(1447-1449)aaG>aaC p.K483N NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 CAGCTTTCTCCTTGCTGGTCA 0.383000 5 108 0 0 1 0 0 PPM1J 333926 broad.mit.edu 37 1 113257684 113257684 + Silent SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr1:113257684C>T ENST00000309276.6 - 1 415 c.240G>A c.(238-240)ctG>ctA p.L80L PPM1J_ENST00000464951.1_5'UTR NM_005167.5 NP_005158.5 Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 80 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGGCGCGTCGCAGCCCCCCGG 0.741000 3 15 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228770991 228770991 + Silent SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr2:228770991C>T ENST00000373666.2 + 9 1431 c.795C>T c.(793-795)agC>agT p.S265S DAW1_ENST00000309931.2_Silent_p.S265S|DAW1_ENST00000545118.1_Silent_p.S250S dynein assembly factor with WDR repeat domains 1 CTGAGATTAGCAGTGCCTCAT 0.318000 4 75 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577988 101577988 + Missense_Mutation SNP A A T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr12:101577988A>T ENST00000536262.2 - 8 1534 c.976T>A c.(976-978)Ttg>Atg p.L326M NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 326 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCCAGTACCAAATAAGGCATG 0.363000 3 29 0 0 1 0 0 MYEOV 26579 broad.mit.edu 37 11 69063311 69063311 + Missense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr11:69063311C>T ENST00000535407.1 + 2 863 c.220C>T c.(220-222)Cgg>Tgg p.R74W MYEOV_ENST00000441339.2_Missense_Mutation_p.R132W|MYEOV_ENST00000308946.3_Missense_Mutation_p.R132W Q96EZ4 MYEOV_HUMAN myeloma overexpressed 132 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GGACGTGTCCCGGGCCAGGAG 0.617000 19 168 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 176 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36169409 36169409 + Missense_Mutation SNP T T G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr6:36169409T>G ENST00000357641.6 + 2 1563 c.1310T>G c.(1309-1311)gTg>gGg p.V437G BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 437 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CAAGGCGGGGTGAGTGGCTCC 0.547000 13 36 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651483 1651483 + Missense_Mutation SNP G G C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr11:1651483G>C ENST00000399676.2 + 1 451 c.413G>C c.(412-414)gGc>gCc p.G138A NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 138 8 X 4 AA repeats of C-C-X-P. keratin filament p.G138A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCAAGGGGGGCTGTGGCTCC 0.692000 4 49 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68365875 68365875 + Splice_Site SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr2:68365875C>T ENST00000295121.6 - 5 748 c.633_splice c.e5+1 p.G211_splice WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Splice_Site_p.G211_splice|WDR92_ENST00000406245.2_Splice_Site_p.G110_splice NM_138458.3 NP_612467.1 Q96MX6 WDR92_HUMAN WD repeat domain 92 211 apoptosis|histone lysine methylation methylated histone residue binding endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 GTACTTTACCCCATTTTTGAT 0.393000 4 134 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27164854 27164854 + Missense_Mutation SNP G G A rs41288787 by1000genomes TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr2:27164854G>A ENST00000288699.6 + 10 1284 c.1126G>A c.(1126-1128)Gtt>Att p.V376I DPYSL5_ENST00000401478.1_Missense_Mutation_p.V376I NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 376 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTGTGGCCGTTACCAGTTC 0.542000 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 168 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906981 42906981 + Silent SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr3:42906981C>T ENST00000422265.1 + 3 1162 c.987C>T c.(985-987)gcC>gcT p.A329A ACKR2_ENST00000273145.2_Silent_p.A329A|ACKR2_ENST00000442925.1_Silent_p.A329A|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 TCCTGGCTGCCGTGCTTGGAT 0.557000 8 100 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131913582 131913582 + Silent SNP T T C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr6:131913582T>C ENST00000403834.3 - 25 3608 c.3435A>G c.(3433-3435)agA>agG p.R1145R MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.R1139R|MED23_ENST00000354577.4_Silent_p.R1145R|MED23_ENST00000545957.1_Silent_p.R780R|MED23_ENST00000368068.3_Silent_p.R1139R|MED23_ENST00000368058.1_Silent_p.R1145R Q9ULK4 MED23_HUMAN mediator complex subunit 23 1139 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TAATGTTCTCTCTTGGCACTA 0.353000 18 76 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262398 61262398 + Missense_Mutation SNP G G A rs139404423 TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr18:61262398G>A ENST00000344731.5 + 7 853 c.751G>A c.(751-753)Gac>Aac p.D251N SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 251 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TCTGCCCAACGACATCGATGG 0.458000 4 108 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102582593 102582593 + Silent SNP T T G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr8:102582593T>G ENST00000251808.3 + 5 1043 c.705T>G c.(703-705)gcT>gcG p.A235A GRHL2_ENST00000395927.1_Silent_p.A219A NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 235 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CAGTTGGGGCTGAGGAGTACA 0.343000 5 80 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83742201 83742201 + Silent SNP T T G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr4:83742201T>G ENST00000432794.1 - 27 3674 c.3511A>C c.(3511-3513)Agg>Cgg p.R1171R SEC31A_ENST00000509142.1_Silent_p.R1044R|SEC31A_ENST00000508502.1_Silent_p.R1143R|SEC31A_ENST00000500777.2_Silent_p.R1005R|SEC31A_ENST00000264405.5_Silent_p.R907R|SEC31A_ENST00000395310.2_Silent_p.R1158R|SEC31A_ENST00000505984.1_Silent_p.R1104R|SEC31A_ENST00000326950.5_Silent_p.R1119R|SEC31A_ENST00000505472.1_Silent_p.R1189R|SEC31A_ENST00000443462.2_Silent_p.R1138R|SEC31A_ENST00000348405.4_Silent_p.R1119R|SEC31A_ENST00000355196.2_Silent_p.R1158R|SEC31A_ENST00000448323.1_Silent_p.R1158R|SEC31A_ENST00000311785.7_Silent_p.R1044R|SEC31A_ENST00000513858.1_Silent_p.R1005R O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1158 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GTCTGTTCCCTAAGTTTATCA 0.343000 43 111 0 0 1 0 0 TOMM70A 9868 broad.mit.edu 37 3 100096610 100096610 + Missense_Mutation SNP T T C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr3:100096610T>C ENST00000284320.5 - 6 1479 c.1031A>G c.(1030-1032)aAt>aGt p.N344S NM_014820.4 NP_055635.3 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) 344 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 32 TGCATTGGCATTGCCAATAAG 0.348000 26 52 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19647644 19647644 + Missense_Mutation SNP G G T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr21:19647644G>T ENST00000284885.3 - 24 2807 c.2774C>A c.(2773-2775)gCa>gAa p.A925E NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 925 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CAATATGTTTGCAGTAGTACC 0.398000 6 59 0.000157383 0.000159454 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261778 39261778 + Silent SNP A A G rs143952367 by1000genomes TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr17:39261778A>G ENST00000391415.1 + 1 195 c.138A>G c.(136-138)gtA>gtG p.V46V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 46 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 GCTGTTGTGTATCCAGCTGCT 0.652000 9 41 0 0 1 0 0 TMEM144 55314 broad.mit.edu 37 4 159138571 159138571 + Splice_Site SNP A A G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr4:159138571A>G ENST00000514558.1 + 4 2127 c.332_splice c.e4+1 p.R111_splice TMEM144_ENST00000296529.6_Splice_Site_p.R111_splice Q7Z5S9 TM144_HUMAN transmembrane protein 144 111 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) GGCAAGCTCAAGGTAATTCAA 0.378000 3 44 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066233 40066233 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr22:40066233G>A ENST00000336649.4 + 28 4403 c.4403G>A c.(4402-4404)cGg>cAg p.R1468Q CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1462Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1462Q Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1462 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AAGAAGCGCCGGAGTGAGTGG 0.667000 4 62 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197031010 197031010 + Missense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr1:197031010C>T ENST00000367412.1 - 3 398 c.355G>A c.(355-357)Gct>Act p.A119T NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 119 Sushi 2. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TACCCTGAAGCGCAACCATAA 0.403000 4 30 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219293033 219293033 + Silent SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr2:219293033G>A ENST00000248444.5 + 6 628 c.540G>A c.(538-540)ccG>ccA p.P180P VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.P180P NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 180 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.P180P(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAATGGACCGGAAAGCACCC 0.572000 4 62 0 0 1 0 0 XG 7499 broad.mit.edu 37 X 2729413 2729413 + Missense_Mutation SNP C C G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chrX:2729413C>G ENST00000426774.1 + 9 672 c.449C>G c.(448-450)tCc>tGc p.S150C XG_ENST00000381174.5_Missense_Mutation_p.S149C|XG_ENST00000419513.2_Missense_Mutation_p.S164C NM_001141920.1|NM_175569.2 NP_001135392.1|NP_780778.1 P55808 XG_HUMAN Xg blood group 149 integral to membrane|plasma membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCCATCGTATCCGTGGTGGTG 0.448000 6 18 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219299258 219299258 + Missense_Mutation SNP T T C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr2:219299258T>C ENST00000248444.5 + 14 1598 c.1510T>C c.(1510-1512)Tcc>Ccc p.S504P VIL1_ENST00000392114.2_Missense_Mutation_p.S193P NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 504 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGAGGCACCTCCCGAACTAA 0.607000 11 85 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023110 17023110 + RNA SNP G G A rs11260887 by1000genomes TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr1:17023110G>A ENST00000492551.1 - 0 1753 NR_026567.1 GTTGAGCAGCGGCTGAAACCC 0.687000 4 26 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33745641 33745641 + Silent SNP T T G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr2:33745641T>G ENST00000403687.3 + 6 998 c.258T>G c.(256-258)ccT>ccG p.P86P RASGRP3_ENST00000402538.3_Silent_p.P86P|RASGRP3_ENST00000407811.1_Silent_p.P86P NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 86 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TGAAGTTTCCTGCAGAGTTTA 0.398000 9 208 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 83 0 0 1 0 0 DEDD2 162989 broad.mit.edu 37 19 42721095 42721095 + Missense_Mutation SNP C C T TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr19:42721095C>T ENST00000595337.1 - 2 152 c.65G>A c.(64-66)gGg>gAg p.G22E DEDD2_ENST00000336034.4_Missense_Mutation_p.G22E|DEDD2_ENST00000598727.1_Missense_Mutation_p.G22E|DEDD2_ENST00000596251.1_Missense_Mutation_p.G22E|DEDD2_ENST00000593804.1_Intron NM_001270614.1 NP_001257543.1 Q8WXF8 DEDD2_HUMAN death effector domain containing 2 22 activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent nucleolus DNA binding|receptor signaling complex scaffold activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(2) 5 Prostate(69;0.0704) CGACAGCATCCCGTAGTAGTC 0.662000 3 15 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 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 10 44 0 0 1 0 0 NOL3 8996 broad.mit.edu 37 16 67208077 67208077 + Missense_Mutation SNP G G A TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr16:67208077G>A ENST00000432069.2 + 4 577 c.5G>A c.(4-6)gGc>gAc p.G2D NOL3_ENST00000568146.1_Missense_Mutation_p.G2D|NOL3_ENST00000564053.1_Missense_Mutation_p.G64D|NOL3_ENST00000268605.7_Missense_Mutation_p.G2D NM_001276309.1|NM_001276312.1|NM_001276319.1 NP_001263238.1|NP_001263241.1|NP_001263248.1 O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 2 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CCGACAATGGGCAACGCGCAG 0.672000 11 29 0 0 1 0 0 PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 8 89 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 7 245 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91732039 91732039 + Frame_Shift_Del DEL G G - rs143306820 TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr7:91732039delG ENST00000359028.2 + 46 11466 c.11241delG c.(11239-11241)atfs p.M3747fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M3693fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3747 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGCCCGGATGGGGGGGCAGC 0.537 T BRAF papillary thyroid 8 1930 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 7 92 --- --- --- --- GKAP1 80318 broad.mit.edu 37 9 86383805 86383821 + Frame_Shift_Del DEL AATAAGAATTTTATGAA AATAAGAATTTTATGAA - TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr9:86383805_86383821delAATAAGAATTTTATGAA ENST00000376371.2 - 8 1050_1066 c.650_666delTTCATAAAATTCTTATT c.(649-666)gfs p.VHKILI217fs GKAP1_ENST00000376365.3_Intron NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 217 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 GTTTTTCTCTAATAAGAATTTTATGAACATCATCTTC 0.318 8 35 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855682 25855683 + RNA INS - - GT rs72063487 by1000genomes TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chr22:25855682_25855683insGT ENST00000354451.2 + 0 366 CCTGGCAGCTGgtgtgtgtgtg 0.530 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920179 76920180 + Frame_Shift_Ins INS - - C TCGA-HT-A5R7-01A-11D-A289-08 TCGA-HT-A5R7-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5 45ec553b-1e7a-4b3c-86a1-c3f1547c1b43 g.chrX:76920179_76920180insC ENST00000373344.5 - 11 4111_4112 c.3897_3898insG c.(3895-3900)ggaaaafs p.GK1299fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.GK1261fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1299 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GTTCTTTTTTTCCCTTCTTCTG 0.371 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 31 72 --- --- --- ---