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 CACNB2 783 broad.mit.edu 37 10 18828327 18828327 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:18828327G>A ENST00000396576.2 + 13 1993 c.1492G>A c.(1492-1494)Gag>Aag p.E498K RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.E501K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E460K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E499K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E303K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E525K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E529K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E553K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E505K NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 553 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTCCAGGCAAGAGACATTTGA 0.557000 9 21 0 0 1 0 0 CPSF7 79869 broad.mit.edu 37 11 61183597 61183597 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:61183597G>A ENST00000340437.4 - 6 1154 c.1074C>T c.(1072-1074)gcC>gcT p.A358A CPSF7_ENST00000439958.3_Silent_p.A306A|CPSF7_ENST00000448745.1_Silent_p.A306A|CPSF7_ENST00000394888.4_Silent_p.A315A NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 315 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GGTTATAGGGGGCAGAGGCCT 0.507000 34 56 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348176 348176 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:348176G>A ENST00000604971.1 + 3 1141 c.28G>A c.(28-30)Gat>Aat p.D10N DUSP22_ENST00000419235.2_Missense_Mutation_p.D113N|DUSP22_ENST00000344450.5_Missense_Mutation_p.D113N|DUSP22_ENST00000605315.1_Missense_Mutation_p.D10N|DUSP22_ENST00000603453.1_Missense_Mutation_p.D10N|DUSP22_ENST00000605035.1_Missense_Mutation_p.D10N|DUSP22_ENST00000605863.1_Missense_Mutation_p.D10N Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 113 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TGGCTGGGAGGATGCCCTGCA 0.597000 93 275 0 0 1 0 0 SLC25A44 9673 broad.mit.edu 37 1 156180108 156180108 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:156180108C>T ENST00000359511.4 + 4 1003 c.831C>T c.(829-831)ggC>ggT p.G277G SLC25A44_ENST00000423538.2_Silent_p.G254G|SLC25A44_ENST00000469537.1_3'UTR NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 277 transmembrane transport integral to membrane|mitochondrial inner membrane binding breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) TCATGAAGGGCCTCTCGGCCA 0.547000 37 17 0 0 1 0 0 ANKMY2 57037 broad.mit.edu 37 7 16644417 16644417 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:16644417A>C ENST00000306999.2 - 8 1183 c.940T>G c.(940-942)Ttt>Gtt p.F314V NM_020319.2 NP_064715.1 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 314 cilium zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 23 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) ACATCCACAAAACCCACCTGG 0.423000 34 84 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90697867 90697867 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:90697867C>T ENST00000458208.1 - 8 1415 c.941G>A c.(940-942)cGa>cAa p.R314Q ACTA2_ENST00000224784.6_Missense_Mutation_p.R314Q|ACTA2-AS1_ENST00000437930.3_RNA|STAMBPL1_ENST00000371927.3_Intron NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 314 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CTTCTGCATTCGGTCGGCAAT 0.522000 32 52 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123670525 123670525 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:123670525T>C ENST00000369043.3 - 5 565 c.479A>G c.(478-480)aAa>aGa p.K160R ATE1_ENST00000369040.3_Missense_Mutation_p.K64R|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Missense_Mutation_p.K153R|ATE1_ENST00000543447.1_Missense_Mutation_p.K45R|ATE1_ENST00000224652.6_Missense_Mutation_p.K160R NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 160 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) AGGTTCTTCTTTCTTTGAATT 0.373000 23 34 0 0 1 0 0 APBB2 323 broad.mit.edu 37 4 40946981 40946981 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:40946981C>T ENST00000295974.8 - 7 1571 c.942G>A c.(940-942)acG>acA p.T314T APBB2_ENST00000506352.1_Silent_p.T314T|APBB2_ENST00000508593.1_Silent_p.T315T|APBB2_ENST00000513140.1_Silent_p.T314T NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 314 WW. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CCCACTGAGTCGTTCCTGTTG 0.537000 65 50 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164271684 164271684 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:164271684G>A ENST00000515560.1 + 4 1781 c.259G>A c.(259-261)Gat>Aat p.D87N NPY5R_ENST00000506953.1_Missense_Mutation_p.D87N|NPY5R_ENST00000338566.3_Missense_Mutation_p.D87N Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 87 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) GGCCTTTTCTGATATCTTGGT 0.413000 152 100 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47315947 47315947 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:47315947C>T ENST00000389798.3 + 19 2348 c.2151C>T c.(2149-2151)gtC>gtT p.V717V LRCH1_ENST00000311191.6_Intron|LRCH1_ENST00000389797.3_Silent_p.V752V NM_015116.2 NP_055931.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 717 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TAGTGCTGGTCTATATCACTT 0.532000 90 232 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9909970 9909970 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:9909970C>T ENST00000506583.1 - 10 1133 c.e10-1 SLC2A9_ENST00000264784.3_Splice_Site|SLC2A9_ENST00000309065.3_Splice_Site Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 AGAACCAAATCTGTAATTCAG 0.438000 11 24 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6678294 6678294 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:6678294C>T ENST00000245907.6 - 40 4811 c.4719G>A c.(4717-4719)tcG>tcA p.S1573S C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1573 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GCACCTCATCCGAGCCTGGAG 0.602000 26 37 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266154 3266154 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:3266154C>T ENST00000576468.1 + 0 418 CGATGTGACTCCCCTCCTGAA 0.537000 10 52 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3707375 3707375 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:3707375G>A ENST00000324932.7 - 29 4924 c.4504C>T c.(4504-4506)Cct>Tct p.P1502S NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1519 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TAGTCCAAAGGATCTGCTGTT 0.522000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 25 52 0 0 1 0 0 DMC1 11144 broad.mit.edu 37 22 38948707 38948707 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:38948707G>A ENST00000216024.2 - 7 661 c.385C>T c.(385-387)Cgt>Tgt p.R129C DMC1_ENST00000428462.2_Missense_Mutation_p.R129C NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 129 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TTTCCAGTACGAAATTCTGTG 0.274000 Homologous recombination 17 31 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58617062 58617062 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:58617062G>A ENST00000317147.5 - 9 1163 c.831C>T c.(829-831)atC>atT p.I277I CNOT1_ENST00000441024.2_Silent_p.I277I|CNOT1_ENST00000569240.1_Silent_p.I277I NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 277 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAAACTGCACGATTATATTGC 0.418000 12 61 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54966555 54966555 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:54966555C>T ENST00000326764.5 + 8 1313 c.834C>T c.(832-834)gcC>gcT p.A278A LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 241 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGTCCTCTGCCCGGGGGAACC 0.627000 12 56 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24344791 24344791 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:24344791C>T ENST00000175238.6 + 11 1135 c.1052C>T c.(1051-1053)aCc>aTc p.T351I ADAM7_ENST00000520720.1_Missense_Mutation_p.T123I|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.T351I|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 351 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTCCCATGCACCTGTCCTTCA 0.448000 19 48 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6712535 6712535 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:6712535A>C ENST00000245907.6 - 10 1195 c.1103T>G c.(1102-1104)aTg>aGg p.M368R NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 368 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTCAAAGGGCATTCCTGGTTT 0.627000 78 137 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108487725 108487725 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:108487725A>C ENST00000408999.3 + 20 3342 c.3265A>C c.(3265-3267)Aaa>Caa p.K1089Q RGPD4_ENST00000354986.4_Missense_Mutation_p.K1089Q NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1089 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAAAATTCTCAAAAACGAGGT 0.403000 17 159 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233122150 233122150 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:233122150C>A ENST00000258229.8 - 33 6162 c.5928G>T c.(5926-5928)ctG>ctT p.L1976L PCNXL2_ENST00000344698.2_Silent_p.L628L NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1976 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCCTCTGGGCCAGCTCGTGCA 0.662000 8 5 0.0581538 0.058234 1 1 0 RPS6KA6 27330 broad.mit.edu 37 X 83351312 83351312 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:83351312G>A ENST00000262752.2 - 20 1868 c.1861C>T c.(1861-1863)Cca>Tca p.P621S RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P621S NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 621 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TTAGCAAATGGAGTGTAGCTA 0.343000 12 2 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64095131 64095131 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:64095131C>T ENST00000371083.4 + 2 704 c.336C>T c.(334-336)ctC>ctT p.L112L PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Silent_p.L94L NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 94 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ATGGAATCCTCTCCACCCCTG 0.473000 116 68 0 0 1 0 0 ZFP3 124961 broad.mit.edu 37 17 4995166 4995166 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:4995166C>T ENST00000318833.3 + 2 703 c.367C>T c.(367-369)Cta>Tta p.L123L NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 CCAAAACTTCCTAGAGATTTT 0.433000 11 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9015342 9015342 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9015342G>A ENST00000397910.4 - 30 38449 c.38246C>T c.(38245-38247)tCt>tTt p.S12749F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12751 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGCAGCCAGAGTACAGAGG 0.522000 73 115 0 0 1 0 0 TMEM71 137835 broad.mit.edu 37 8 133726259 133726259 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:133726259T>C ENST00000356838.3 - 9 939 c.797A>G c.(796-798)aAa>aGa p.K266R TMEM71_ENST00000523829.1_Intron|TMEM71_ENST00000377901.4_Missense_Mutation_p.K222R NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 285 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GGCAGTGGTTTTGAAATAGCT 0.363000 18 52 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082600 9082600 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9082600T>C ENST00000397910.4 - 1 9418 c.9215A>G c.(9214-9216)cAg>cGg p.Q3072R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3073 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCTGAAGTCTGAAGATGCAC 0.493000 42 48 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138644072 138644072 + Missense_Mutation SNP G G A rs137852278 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:138644072G>A ENST00000218099.2 + 8 1235 c.1228G>A c.(1228-1230)Gat>Aat p.D410N F9_ENST00000394090.2_Missense_Mutation_p.D372N NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 410 Peptidase S1. D -> H (in HEMB; Mechtal). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) ATGTCAAGGAGATAGTGGGGG 0.443000 47 2 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32811707 32811707 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:32811707C>T ENST00000380250.3 + 44 6498 c.6002C>T c.(6001-6003)gCc>gTc p.A2001V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2001 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTCGAAGTGCCACACTGGAC 0.547000 14 32 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52162882 52162882 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:52162882C>T ENST00000354534.5 + 17 3313 c.3135C>T c.(3133-3135)atC>atT p.I1045I SCN8A_ENST00000545061.1_Silent_p.I1045I NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1045 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCAACTGTATCGCCAATCACA 0.522000 7 6 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43385563 43385563 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:43385563C>T ENST00000372851.3 - 5 633 c.567G>A c.(565-567)gaG>gaA p.E189E RIMS4_ENST00000541604.2_Silent_p.E190E NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 189 C2. exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CCTGGGGACTCTCAGGAAACA 0.557000 230 271 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595792 36595792 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:36595792G>A ENST00000299440.5 + 2 1050 c.938G>A c.(937-939)tGc>tAc p.C313Y NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 313 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CATGTCTTTTGCCGGGTCTGC 0.517000 Familial Hemophagocytic Lymphohistiocytosis 21 28 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84738844 84738844 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:84738844G>A ENST00000372142.2 + 9 1162 c.888G>A c.(886-888)agG>agA p.R296R NRG3_ENST00000404547.1_Silent_p.R517R|NRG3_ENST00000556918.1_Silent_p.R347R|NRG3_ENST00000537893.1_Silent_p.R167R|NRG3_ENST00000404576.2_Silent_p.R321R|NRG3_ENST00000545131.1_Silent_p.R167R|NRG3_ENST00000372141.2_Silent_p.R517R NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 517 EGF-like. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AAGAATCAAGGATCCCAGACC 0.478000 11 18 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44981615 44981615 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:44981615G>A ENST00000221327.4 - 5 1364 c.1083C>T c.(1081-1083)tcC>tcT p.S361S ZNF180_ENST00000592529.1_Silent_p.S334S|ZNF180_ENST00000391956.4_Silent_p.S336S NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) TCCAGCTGAAGGATTTCCCAC 0.413000 36 58 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878460 150878460 + Silent SNP G G T rs138770241 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:150878460G>T ENST00000422024.1 - 3 930 c.805C>A c.(805-807)Cgg>Agg p.R269R ASB10_ENST00000275838.1_Silent_p.R224R|ASB10_ENST00000377867.3_Silent_p.R209R|ASB10_ENST00000420175.2_Silent_p.R224R|ASB10_ENST00000434669.1_Silent_p.R269R NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 224 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGCCAAGCCGGGCGGCCACA 0.627000 19 39 8.34094e-07 8.43982e-07 1 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37490190 37490190 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:37490190G>A ENST00000374660.1 + 37 3094 c.2995G>A c.(2995-2997)Gat>Aat p.D999N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D880N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D880N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1023 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTCACAGAAGGATGTGTGTGT 0.299000 18 28 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94645431 94645431 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:94645431T>C ENST00000260526.6 - 20 2512 c.2330A>G c.(2329-2331)cAa>cGa p.Q777R ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 777 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTTTGTCTCTTGTTCTTCATT 0.299000 20 54 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197396920 197396920 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:197396920G>A ENST00000367397.1 + 3 1466 c.608G>A c.(607-609)tGg>tAg p.W203* CRB1_ENST00000535699.1_Nonsense_Mutation_p.W753*|CRB1_ENST00000367400.3_Nonsense_Mutation_p.W822*|CRB1_ENST00000544212.1_Nonsense_Mutation_p.W303*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.W710*|CRB1_ENST00000538660.1_Intron P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 822 EGF-like 5; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GCTTCTACGTGGAAAATCGAA 0.373000 18 4 0 0 1 0 0 ANKRD29 147463 broad.mit.edu 37 18 21229140 21229140 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:21229140G>A ENST00000592179.1 - 2 193 c.39C>T c.(37-39)gcC>gcT p.A13A ANKRD29_ENST00000284207.7_Silent_p.A13A|ANKRD29_ENST00000322980.9_Silent_p.A13A NM_173505.2 NP_775776.2 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 13 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATGCAGCATTGGCAAGTGGAG 0.488000 8 10 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40895518 40895518 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:40895518C>T ENST00000291823.2 - 1 576 c.292G>A c.(292-294)Gag>Aag p.E98K NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 98 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TTCTGGAACTCGAAAAGGTTT 0.597000 40 38 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100211644 100211644 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:100211644C>T ENST00000376387.4 + 16 1970 c.1780C>T c.(1780-1782)Ctt>Ttt p.L594F NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 594 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GCGTTCATTCCTTACGAGTGG 0.348000 5 52 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57570838 57570838 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:57570838G>A ENST00000243077.3 + 25 4472 c.4006G>A c.(4006-4008)Gag>Aag p.E1336K NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1336 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACTAGTTTCGAGGTGGTGAT 0.557000 54 99 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 333208 333208 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:333208G>A ENST00000343164.4 - 11 1313 c.1261C>T c.(1261-1263)Ctt>Ttt p.L421F SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.L329F NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 421 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GATACTCCAAGGATGAGGACT 0.577000 25 49 0 0 1 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280087 22280087 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:22280087C>T ENST00000390431.3 + 0 276 CCACTTCTTTCCACTTGGAGA 0.498000 14 7 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178540923 178540923 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:178540923C>T ENST00000251582.7 - 22 3682 c.3581G>A c.(3580-3582)aGa>aAa p.R1194K NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1194 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTCTTGGATTCTTTGGTTTCT 0.438000 72 14 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73046189 73046189 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:73046189C>T ENST00000261180.4 + 16 2724 c.2628C>T c.(2626-2628)ttC>ttT p.F876F NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 876 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGATGAAATTCCATTCCACCA 0.383000 8 22 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183710262 183710262 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:183710262T>A ENST00000511685.1 + 25 5444 c.5321T>A c.(5320-5322)cTc>cAc p.L1774H TENM3_ENST00000406950.2_Missense_Mutation_p.L1774H teneurin transmembrane protein 3 GGCAGAAACCTCCTTTCAGTT 0.418000 11 5 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128359348 128359348 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:128359348T>C ENST00000262462.4 + 6 2210 c.1200T>C c.(1198-1200)ttT>ttC p.F400F SLC27A6_ENST00000506176.1_Silent_p.F400F|SLC27A6_ENST00000395266.1_Silent_p.F400F Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 400 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGTATGACTTTCAGAAAGATG 0.323000 8 8 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540643 169540643 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:169540643C>T ENST00000340806.6 + 1 934 c.934C>T c.(934-936)Cag>Tag p.Q312* NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 312 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GGACCTAAGCCAGAACCATCT 0.567000 23 28 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224475510 224475510 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:224475510T>C ENST00000281701.6 - 14 2020 c.1761A>G c.(1759-1761)gaA>gaG p.E587E NVL_ENST00000469075.1_Silent_p.E496E|NVL_ENST00000391875.2_Silent_p.E481E|NVL_ENST00000482491.1_Silent_p.E311E|NVL_ENST00000340871.4_Silent_p.E398E|NVL_ENST00000361463.3_Silent_p.E481E NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 587 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) CTCTAATGTCTTCCAGGGCAC 0.443000 31 37 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238296529 238296529 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:238296529C>T ENST00000295550.4 - 4 1460 c.1008G>A c.(1006-1008)cgG>cgA p.R336R COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Silent_p.R130R|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Silent_p.R130R|COL6A3_ENST00000346358.4_Silent_p.R336R|COL6A3_ENST00000392004.3_Silent_p.R130R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 336 Nonhelical region.|VWFA 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGCCCCCTGCCCGGGTGAAGT 0.622000 4 25 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143054029 143054029 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:143054029C>T ENST00000409408.1 - 6 2321 c.613G>A c.(613-615)Gaa>Aaa p.E205K FAM131B_ENST00000443739.2_Missense_Mutation_p.E233K|FAM131B_ENST00000409578.1_Missense_Mutation_p.E221K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E205K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E205K Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 205 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TCGCTGGCTTCCCAGGCATCT 0.547000 46 31 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209823369 209823369 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:209823369G>A ENST00000391911.1 - 2 512 c.123C>T c.(121-123)ctC>ctT p.L41L LAMB3_ENST00000356082.4_Silent_p.L41L|LAMB3_ENST00000367030.3_Silent_p.L41L NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 41 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ATGAAGCTCGGAGAAACCGGG 0.617000 19 83 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135616890 135616890 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:135616890G>A ENST00000356140.5 + 3 298 c.162G>A c.(160-162)tgG>tgA p.W54* ACMSD_ENST00000283054.4_Missense_Mutation_p.G13E|ACMSD_ENST00000392928.1_Missense_Mutation_p.G13E|AC016725.4_ENST00000392929.2_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 54 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) AGAATTGCTGGGATCCAGAAG 0.423000 6 55 0 0 1 0 0 LOC202181 202181 broad.mit.edu 37 5 177059471 177059471 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:177059471G>A ENST00000515045.1 - 0 457 NR_026921.1 TCTTCCACTAGGTCCAAATCT 0.517000 77 11 0 0 1 0 0 NFKB1 4790 broad.mit.edu 37 4 103517389 103517389 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:103517389C>T ENST00000226574.4 + 14 1862 c.1395C>T c.(1393-1395)acC>acT p.T465T NFKB1_ENST00000394820.4_Silent_p.T464T|NFKB1_ENST00000600343.1_Silent_p.T284T|NFKB1_ENST00000505458.1_Silent_p.T464T NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 464 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TTATTGAAACCACAGAGCAAG 0.458000 27 25 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30982823 30982823 + Silent SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:30982823C>G ENST00000262519.8 + 13 3827 c.3141C>G c.(3139-3141)tcC>tcG p.S1047S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1047 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 cctcctcctcctcgtcctcat 0.572000 3 56 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43675545 43675545 + Missense_Mutation SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:43675545G>C ENST00000372492.4 + 11 2211 c.1887G>C c.(1885-1887)aaG>aaC p.K629N WDR65_ENST00000528956.1_Missense_Mutation_p.K629N NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 629 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCTGCAGAAGGAATTCAATG 0.577000 21 57 0 0 1 0 0 COX4I2 84701 broad.mit.edu 37 20 30227861 30227861 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:30227861G>A ENST00000376075.3 + 3 283 c.208G>A c.(208-210)Gga>Aga p.G70R COX4I2_ENST00000490030.1_3'UTR NM_032609.2 NP_115998.2 Q96KJ9 COX42_HUMAN cytochrome c oxidase subunit IV isoform 2 (lung) 70 cellular respiration cytochrome-c oxidase activity breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 11 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GAAGGAGAAGGGAAGCTGGAC 0.587000 10 32 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74673068 74673068 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:74673068C>T ENST00000334011.5 + 6 1011 c.793C>T c.(793-795)Cct>Tct p.P265S NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 265 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) CTCTGCAGTCCCTGTGTTGTG 0.507000 65 69 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724156 50724156 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:50724156A>C ENST00000515869.1 - 6 2529 c.2409T>G c.(2407-2409)ttT>ttG p.F803L ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Missense_Mutation_p.F335L|PGBD3_ENST00000603152.1_Missense_Mutation_p.F803L|PGBD3_ENST00000374127.3_Missense_Mutation_p.F335L|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.F803L NM_001277059.1 NP_001263988.1 GTGCCTCACTAAACTGAAGGA 0.433000 31 33 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12973120 12973120 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:12973120G>A ENST00000276297.4 - 6 1804 c.1395C>T c.(1393-1395)ttC>ttT p.F465F DLC1_ENST00000520226.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.F28F|DLC1_ENST00000512044.2_Silent_p.F62F NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 465 SAM. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CATACTGGGGGAAACCAGTTG 0.423000 32 38 0 0 1 0 0 NIM1K 167359 broad.mit.edu 37 5 43280221 43280221 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:43280221C>T ENST00000512796.1 + 4 2200 c.701C>T c.(700-702)cCt>cTt p.P234L NIM1_ENST00000326035.2_Missense_Mutation_p.P234L Q8IY84 NIM1_HUMAN 234 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity TGTGGGTCTCCTCCCTACGCT 0.483000 34 55 0 0 1 0 0 DDI2 84301 broad.mit.edu 37 1 15960018 15960018 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:15960018C>T ENST00000480945.1 + 4 761 c.590C>T c.(589-591)cCc>cTc p.P197L NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA-damage inducible 1 homolog 2 (S. cerevisiae) 197 proteolysis aspartic-type endopeptidase activity p.P197H(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1) 17 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TCTGCTGATCCCTTTGACCTT 0.438000 211 144 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73616108 73616108 + Missense_Mutation SNP G G A rs148714049 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:73616108G>A ENST00000261917.3 - 8 3319 c.2326C>T c.(2326-2328)Ccg>Tcg p.P776S NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 776 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) TGGATCAGCGGGGTCCAGATG 0.687000 31 6 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729967 18729967 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:18729967G>A ENST00000440756.2 - 3 509 c.407C>T c.(406-408)tCa>tTa p.S136L PSD3_ENST00000327040.8_Missense_Mutation_p.S136L|PSD3_ENST00000523619.1_Missense_Mutation_p.S71L Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 136 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TTTCAGAGCTGAAATCAAAGA 0.458000 89 97 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6540402 6540402 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:6540402G>A ENST00000263125.5 - 5 597 c.498C>T c.(496-498)ttC>ttT p.F166F PRKCQ_ENST00000539722.1_Silent_p.F41F|PRKCQ_ENST00000397176.2_Silent_p.F166F NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 166 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GCTGTGGGAAGAAGGTGGCAG 0.522000 48 82 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 102866891 102866891 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:102866891C>T ENST00000262457.2 + 2 273 c.88C>T c.(88-90)Cta>Tta p.L30L INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Silent_p.L30L|INVS_ENST00000374921.3_Silent_p.L30L|INVS_ENST00000460636.2_3'UTR NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 30 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) TAAGGGTGCTCTACAGAGGCT 0.413000 22 28 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120005282 120005282 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:120005282G>A ENST00000354888.5 + 4 1024 c.520G>A c.(520-522)Gcc>Acc p.A174T STEAP3_ENST00000393110.2_Missense_Mutation_p.A184T|STEAP3_ENST00000409811.1_Missense_Mutation_p.A174T|STEAP3_ENST00000393106.2_Missense_Mutation_p.A174T|STEAP3_ENST00000450943.2_Missense_Mutation_p.A174T|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.A174T|STEAP3_ENST00000393107.2_Missense_Mutation_p.A174T|STEAP3_ENST00000425223.2_Missense_Mutation_p.A174T NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 174 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CCAGCCAGAAGCCAAGCGTGC 0.667000 9 5 0 0 1 0 0 RANBP3 8498 broad.mit.edu 37 19 5923822 5923822 + Splice_Site SNP C C T rs1141691 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:5923822C>T ENST00000340578.6 - 12 1157 c.e12+1 RANBP3_ENST00000541471.1_Splice_Site|RANBP3_ENST00000439268.2_Splice_Site|RANBP3_ENST00000034275.8_Splice_Site|RANBP3_ENST00000591092.1_Splice_Site NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 CGCTAACATACCTTTCTCAGG 0.587000 19 21 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36104507 36104507 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:36104507C>T ENST00000211287.4 + 7 832 c.570C>T c.(568-570)gcC>gcT p.A190A MAPK13_ENST00000373766.5_Silent_p.A190A|MAPK13_ENST00000373759.1_Silent_p.A112A|MAPK13_ENST00000373761.6_Silent_p.A180A NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 190 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 GGTACCGAGCCCCCGAGGTGA 0.582000 18 10 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196749882 196749882 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:196749882C>T ENST00000296350.5 - 5 703 c.590G>A c.(589-591)gGg>gAg p.G197E MFI2_ENST00000296351.4_Missense_Mutation_p.G197E NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 197 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GTCACACACCCCTTCCCCAGA 0.657000 63 104 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53516968 53516968 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:53516968C>T ENST00000301466.3 + 13 1400 c.1340C>T c.(1339-1341)cCc>cTc p.P447L NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 447 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TTCTTCTATCCCGTCATGCTG 0.587000 21 52 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241421665 241421665 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:241421665G>A ENST00000391987.1 - 16 2919 c.2553C>T c.(2551-2553)ccC>ccT p.P851P ANKMY1_ENST00000406958.1_Silent_p.P612P|ANKMY1_ENST00000403283.1_Silent_p.P753P|ANKMY1_ENST00000361678.4_Silent_p.P627P|ANKMY1_ENST00000373320.4_Silent_p.P621P|ANKMY1_ENST00000401804.1_Silent_p.P940P|ANKMY1_ENST00000373318.2_Silent_p.P630P|ANKMY1_ENST00000272972.3_Silent_p.P851P Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 851 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TCCTGTGGCTGGGGATCAGCT 0.632000 39 12 0 0 1 0 0 ROPN1B 152015 broad.mit.edu 37 3 125691007 125691007 + Missense_Mutation SNP G G A rs146745880 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:125691007G>A ENST00000504401.1 + 2 359 c.110G>A c.(109-111)gGg>gAg p.G37E ROPN1B_ENST00000514116.1_Missense_Mutation_p.G37E|ROPN1B_ENST00000251776.4_Missense_Mutation_p.G37E|ROPN1B_ENST00000511862.1_3'UTR Q9BZX4 ROP1B_HUMAN rhophilin associated tail protein 1B 37 RIIa. acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(114;0.151) ATCCAGTGGGGGGCCGAGTAC 0.617000 35 42 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215882781 215882781 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:215882781C>T ENST00000272895.7 - 14 1952 c.1733G>A c.(1732-1734)aGg>aAg p.R578K ABCA12_ENST00000389661.4_Missense_Mutation_p.R260K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 578 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) gtCAATAGTCCTGTTGGACAT 0.368000 35 10 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31347415 31347415 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:31347415G>A ENST00000336798.7 - 2 2209 c.717C>T c.(715-717)ttC>ttT p.F239F SDC3_ENST00000339394.6_Silent_p.F297F O75056 SDC3_HUMAN syndecan 3 297 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) TTGTGGTCAGGAAGGTCTCTG 0.607000 99 84 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137773395 137773395 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:137773395G>A ENST00000242375.3 + 2 184 c.142G>A c.(142-144)Ggg>Agg p.G48R AKR1D1_ENST00000411726.2_Missense_Mutation_p.G48R|AKR1D1_ENST00000432161.1_Missense_Mutation_p.G48R|AKR1D1_ENST00000468877.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 48 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TATTGACACAGGGTACCGACA 0.493000 17 18 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106130763 106130763 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:106130763C>T ENST00000369704.3 + 7 1175 c.1041C>T c.(1039-1041)gtC>gtT p.V347V CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 347 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGGCAGAAGTCGAACAGCACA 0.378000 9 16 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953164 56953164 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:56953164G>A ENST00000504904.3 - 7 1919 c.1200C>T c.(1198-1200)tcC>tcT p.S400S ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.S400S|ZNF667_ENST00000342634.3_Silent_p.S528S Q5HYK9 ZN667_HUMAN zinc finger protein 667 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GTTGAATAAGGGATGAATGCC 0.358000 12 14 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244627 56244627 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:56244627C>T ENST00000332836.2 - 2 597 c.570G>A c.(568-570)atG>atA p.M190I NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 190 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CGATACCGTTCATTTCACAGA 0.453000 5 17 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175742 57175742 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:57175742C>T ENST00000537055.2 - 2 1056 c.825G>A c.(823-825)gaG>gaA p.E275E NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGTAGGGCTTCTCCTCCGTGT 0.687000 10 15 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120911459 120911459 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:120911459G>A ENST00000310396.5 + 22 3310 c.2843G>A c.(2842-2844)gGg>gAg p.G948E NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TTTCTACAGGGGAAGTGTGGA 0.323000 17 23 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37622638 37622638 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:37622638G>A ENST00000434837.2 - 5 1828 c.650C>T c.(649-651)tCt>tTt p.S217F MDGA1_ENST00000505425.1_Missense_Mutation_p.S217F|MDGA1_ENST00000297153.7_Missense_Mutation_p.S217F NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 217 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GTTACGCACAGACACCTGGCA 0.607000 89 159 0 0 1 0 0 C15orf26 161502 broad.mit.edu 37 15 81426721 81426721 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:81426721G>A ENST00000286732.4 + 1 134 c.51G>A c.(49-51)gaG>gaA p.E17E NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 17 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 ACTGGAATGAGGATGTCTACC 0.602000 9 2 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124383315 124383315 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:124383315C>T ENST00000409039.3 + 55 9265 c.9240C>T c.(9238-9240)gcC>gcT p.A3080A NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3080 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGAAGTCCGCCGCCTGCGAGG 0.642000 11 15 0 0 1 0 0 KIF22 3835 broad.mit.edu 37 16 29816330 29816330 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:29816330C>T ENST00000561482.1 + 12 2306 c.1669C>T c.(1669-1671)Cac>Tac p.H557Y KIF22_ENST00000160827.4_Missense_Mutation_p.H625Y|KIF22_ENST00000569382.2_Missense_Mutation_p.H571Y|KIF22_ENST00000400751.5_Missense_Mutation_p.H557Y NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 625 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 GCGGGAGCTCCACGGCCCCTT 0.662000 17 49 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368372 72368372 + Missense_Mutation SNP G G A rs138844667 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:72368372G>A ENST00000335666.4 + 4 1070 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 341 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CACCGGCTACGGAGGAGGGGC 0.637000 12 23 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091052 9091052 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9091052C>T ENST00000397910.4 - 1 966 c.763G>A c.(763-765)Gaa>Aaa p.E255K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 255 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAATCAGTTCCAGGCTTGTT 0.478000 13 18 0 0 1 0 0 CNTD1 124817 broad.mit.edu 37 17 40958723 40958723 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:40958723G>A ENST00000588408.1 + 5 888 c.612G>A c.(610-612)agG>agA p.R204R CNTD1_ENST00000588527.1_Silent_p.R121R|CNTD1_ENST00000315066.5_3'UTR NM_173478.2 NP_775749.2 Q8N815 CNTD1_HUMAN cyclin N-terminal domain containing 1 204 central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) CAGCCATGAGGCTGCATGCAA 0.468000 180 20 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10747048 10747048 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:10747048A>T ENST00000586078.1 + 15 1392 c.1283A>T c.(1282-1284)cAg>cTg p.Q428L SLC44A2_ENST00000407327.4_Missense_Mutation_p.Q426L|SLC44A2_ENST00000335757.5_Missense_Mutation_p.Q428L NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 428 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GCCCGTTGCCAGTTCGCCTTC 0.592000 42 53 0 0 1 0 0 TM2D2 83877 broad.mit.edu 37 8 38853913 38853913 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:38853913G>A ENST00000456397.2 - 1 139 c.46C>T c.(46-48)Cag>Tag p.Q16* TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000456845.2_Intron NM_078473.2 NP_510882.1 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 16 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) AAAGCCGCCTGGCCGCACAGA 0.612000 80 107 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61689437 61689437 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:61689437G>A ENST00000577390.1 - 11 2797 c.1843C>T c.(1843-1845)Ctt>Ttt p.L615F CDH8_ENST00000577730.1_Missense_Mutation_p.L615F|CDH8_ENST00000299345.6_Missense_Mutation_p.L615F NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 615 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CCAATTGGAAGGACATAAGCT 0.478000 18 58 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028237 21028237 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:21028237G>A ENST00000381545.3 + 9 1015 c.796G>A c.(796-798)Gga>Aga p.G266R LST3_ENST00000540229.1_Missense_Mutation_p.G266R|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G266R|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G266R NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 266 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CCTTGTGTCTGGACTATTTTC 0.373000 28 44 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75078435 75078435 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:75078435G>A ENST00000326665.5 - 9 1277 c.1059C>T c.(1057-1059)ttC>ttT p.F353F C1orf173_ENST00000420661.2_Silent_p.F156F|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 353 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCCATTCAGGAAAAAGGTGA 0.423000 11 29 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54966554 54966554 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:54966554C>T ENST00000326764.5 + 8 1312 c.833C>T c.(832-834)gCc>gTc p.A278V LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 241 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGGTCCTCTGCCCGGGGGAAC 0.622000 12 56 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10397696 10397696 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:10397696G>A ENST00000226207.5 - 39 5736 c.5642C>T c.(5641-5643)tCc>tTc p.S1881F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1881 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTCTTGTAGGATTTCACCTT 0.433000 93 13 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173378897 173378897 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:173378897G>A ENST00000265085.5 + 8 3190 c.1736G>A c.(1735-1737)cGa>cAa p.R579Q CPEB4_ENST00000334035.5_Missense_Mutation_p.R562Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000522336.1_Missense_Mutation_p.R189Q|CPEB4_ENST00000517880.1_Missense_Mutation_p.R172Q|CPEB4_ENST00000520867.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000519467.1_3'UTR NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 579 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CTTGACCCACGAAAAACTATA 0.428000 19 29 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72299398 72299398 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:72299398G>A ENST00000263563.6 + 15 2056 c.1788G>A c.(1786-1788)ctG>ctA p.L596L NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGGGCCCCCTGACCTACAGGT 0.667000 24 32 0 0 1 0 0 PRADC1 84279 broad.mit.edu 37 2 73455927 73455927 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:73455927C>T ENST00000258083.2 - 4 509 c.442G>A c.(442-444)Gac>Aac p.D148N PRADC1_ENST00000480093.1_Intron NM_032319.1 NP_115695.1 Q9BSG0 PADC1_HUMAN protease-associated domain containing 1 148 PA. extracellular region endometrium(1)|large_intestine(1)|lung(2) 4 CCTCACCCGTCTCGGCCGAGC 0.592000 5 26 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595193 44595193 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:44595193G>A ENST00000372299.3 + 2 308 c.250G>A c.(250-252)Gaa>Aaa p.E84K KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 84 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GAATGTGAATGAAGGGGGGCC 0.557000 43 42 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40293465 40293465 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:40293465G>A ENST00000302541.6 + 16 2864 c.2522G>A c.(2521-2523)aGg>aAg p.R841K MYRIP_ENST00000425621.1_Missense_Mutation_p.R776K|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.R752K|MYRIP_ENST00000444716.1_Missense_Mutation_p.R841K|MYRIP_ENST00000539167.1_Missense_Mutation_p.R654K NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 841 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACTAAGGAAAGGAAAGGCACC 0.408000 5 11 0 0 1 0 0 SUN2 25777 broad.mit.edu 37 22 39132377 39132377 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:39132377C>T ENST00000405510.1 - 19 2407 c.2049G>A c.(2047-2049)acG>acA p.T683T SUN2_ENST00000405018.1_Silent_p.T704T|SUN2_ENST00000216064.4_Silent_p.T683T|SUN2_ENST00000411587.2_Silent_p.T672T|RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000406622.1_Silent_p.T683T NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 683 SUN. centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 ACGTGGCCATCGTAGGGGCCT 0.612000 10 31 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1775285 1775285 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:1775285G>A ENST00000236671.2 - 7 1043 c.911C>T c.(910-912)cCg>cTg p.P304L RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R175W NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 304 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCATCCACCGGGCCCACCAT 0.711000 14 14 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83800043 83800043 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:83800043G>A ENST00000432794.1 - 4 405 c.242C>T c.(241-243)tCc>tTc p.S81F SEC31A_ENST00000508502.1_Missense_Mutation_p.S81F|SEC31A_ENST00000443462.2_Missense_Mutation_p.S76F|SEC31A_ENST00000448323.1_Missense_Mutation_p.S81F|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000311785.7_Missense_Mutation_p.S81F|SEC31A_ENST00000505984.1_Missense_Mutation_p.S81F|SEC31A_ENST00000395310.2_Missense_Mutation_p.S81F|SEC31A_ENST00000513858.1_Missense_Mutation_p.S81F|SEC31A_ENST00000505472.1_Missense_Mutation_p.S81F|SEC31A_ENST00000509142.1_Missense_Mutation_p.S81F|SEC31A_ENST00000355196.2_Missense_Mutation_p.S81F|SEC31A_ENST00000500777.2_Missense_Mutation_p.S81F|SEC31A_ENST00000348405.4_Missense_Mutation_p.S81F|SEC31A_ENST00000508479.1_Missense_Mutation_p.S81F|SEC31A_ENST00000326950.5_Missense_Mutation_p.S81F O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 81 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) ATCTCCTTTGGAATCCATTTT 0.338000 13 37 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42133291 42133291 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:42133291G>A ENST00000221954.2 - 1 151 c.41C>T c.(40-42)cCc>cTc p.P14L CEACAM4_ENST00000600925.1_Missense_Mutation_p.P14L NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 14 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCCCTGCCAGGGCCTGTGCCC 0.652000 17 24 0 0 1 0 0 HLA-DPA1 3113 broad.mit.edu 37 6 33036535 33036535 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:33036535G>A ENST00000419277.1 - 5 804 c.675C>T c.(673-675)ctC>ctT p.L225L HLA-DPA1_ENST00000428995.1_Silent_p.L225L NM_001242524.1|NM_001242525.1 NP_001229453.1|NP_001229454.1 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP alpha 1 225 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2) 15 CCAGGGCACAGAGCACAGTCT 0.612000 71 46 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64663970 64663970 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:64663970G>A ENST00000421419.2 - 39 5511 c.5397C>T c.(5395-5397)gcC>gcT p.A1799A ATG2A_ENST00000377264.3_Silent_p.A1797A Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1797 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TGAGTTCCAGGGCGGCAGAGG 0.637000 OREG0004026 type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 12 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73168133 73168133 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:73168133G>A ENST00000377110.2 - 22 3524 c.3281C>T c.(3280-3282)gCc>gTc p.A1094V TRPM3_ENST00000358082.3_Missense_Mutation_p.A956V|TRPM3_ENST00000396292.4_Missense_Mutation_p.A966V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A953V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1121V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A953V|TRPM3_ENST00000377111.2_Missense_Mutation_p.A1094V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A943V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A953V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A966V|TRPM3_ENST00000360823.2_Missense_Mutation_p.A956V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1098V NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1119 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GAGGTAGCAGGCCATGATGGC 0.537000 12 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179412758 179412758 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:179412758C>T ENST00000589042.1 - 339 93819 c.93595G>A c.(93595-93597)Gaa>Aaa p.E31199K TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28631K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22259K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22134K|TTN_ENST00000342175.6_Missense_Mutation_p.E22326K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29558K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29558 Fibronectin type-III 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGAAGGCTTCTCTGGGTTCA 0.453000 18 0 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105947086 105947086 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:105947086G>A ENST00000357060.3 - 14 1967 c.1852C>T c.(1852-1854)Cct>Tct p.P618S WDR96_ENST00000278064.2_Missense_Mutation_p.P549S|WDR96_ENST00000428666.1_Missense_Mutation_p.P619S NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 618 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACTTCTTCAGGAAGAAGGTAG 0.398000 13 26 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31927242 31927242 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:31927242C>T ENST00000300870.10 + 4 1881 c.1672C>T c.(1672-1674)Cct>Tct p.P558S RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 558 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 CAAAGCCTTTCCTTATAGTTC 0.353000 25 12 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59348961 59348961 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:59348961A>G ENST00000263847.1 - 10 2224 c.1745T>C c.(1744-1746)gTa>gCa p.V582A NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 582 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AATGTTGTGTACAGTTGTGGT 0.393000 3 121 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691026 26691026 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:26691026G>A ENST00000436292.1 - 4 1131 c.1011C>T c.(1009-1011)ctC>ctT p.L337L ZNF683_ENST00000403843.1_Silent_p.L337L|ZNF683_ENST00000374204.1_Silent_p.L337L|ZNF683_ENST00000349618.3_Silent_p.L337L Q8IZ20 ZN683_HUMAN zinc finger protein 683 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) CAGATACCTTGAGATTGGAGA 0.537000 42 160 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809476 18809476 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:18809476C>A ENST00000400664.1 + 1 2053 c.2001C>A c.(1999-2001)gaC>gaA p.D667E NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 667 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCAAGGACCGCACGGCCG 0.687000 15 33 4.96729e-08 5.04024e-08 1 1 0 CNTNAP3 79937 broad.mit.edu 37 9 39140542 39140542 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:39140542G>A ENST00000297668.6 - 12 1923 c.1850C>T c.(1849-1851)cCa>cTa p.P617L CNTNAP3_ENST00000323947.7_Missense_Mutation_p.P524L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P617L|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P529L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.P617L NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 617 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CACAAGAAATGGTCCCAGGGG 0.443000 32 9 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109313543 109313543 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:109313543C>T ENST00000299134.5 - 11 979 c.980G>A c.(979-981)gGa>gAa p.G327E NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 GGTCAATAATCCACAGAGTCA 0.537000 3 9 0 0 1 0 0 NPEPL1 79716 broad.mit.edu 37 20 57288560 57288560 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:57288560C>T ENST00000356091.6 + 9 1374 c.1086C>T c.(1084-1086)gcC>gcT p.A362A NPEPL1_ENST00000525967.1_Silent_p.A334A|NPEPL1_ENST00000525817.1_Silent_p.A314A|STX16-NPEPL1_ENST00000530122.1_3'UTR NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 362 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) ACCTGGGGGCCGACATCATCC 0.622000 20 20 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127441340 127441340 + Nonsense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:127441340A>T ENST00000434178.2 - 4 1198 c.302T>A c.(301-303)tTg>tAg p.L101* MGLL_ENST00000453507.2_Nonsense_Mutation_p.L111*|MGLL_ENST00000265052.5_Nonsense_Mutation_p.L111*|MGLL_ENST00000398101.3_Nonsense_Mutation_p.L75*|MGLL_ENST00000398104.1_Nonsense_Mutation_p.L101* Q99685 MGLL_HUMAN monoglyceride lipase 101 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 CACATGCTGCAACACATCCCT 0.537000 38 95 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100841663 100841663 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:100841663C>T ENST00000369208.3 - 11 2052 c.1270G>A c.(1270-1272)Gat>Aat p.D424N SIM1_ENST00000262901.4_Missense_Mutation_p.D424N P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 424 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.D424N(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCAGGCCTATCGGCGGGGTCC 0.597000 44 7 0 0 1 0 0 HPSE2 60495 broad.mit.edu 37 10 100249954 100249954 + Splice_Site SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:100249954C>A ENST00000370552.3 - 10 1380 c.e10-1 HPSE2_ENST00000370549.1_Splice_Site|HPSE2_ENST00000370546.1_Splice_Site|HPSE2_ENST00000404542.1_Splice_Site NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GCCAGTAGTCCTGAGGAGAAT 0.577000 12 32 4.36969e-10 4.45254e-10 1 1 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847454 32847454 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:32847454G>A ENST00000420261.1 - 0 171 TATGTCGCCAGGATGTTCATT 0.483000 28 38 0 0 1 0 0 TAAR5 9038 broad.mit.edu 37 6 132910232 132910232 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:132910232T>A ENST00000258034.2 - 1 645 c.594A>T c.(592-594)aaA>aaT p.K198N NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 198 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) AGCCCCAAAATTTATTGAGCA 0.483000 37 5 0 0 1 0 0 DERL2 51009 broad.mit.edu 37 17 5383874 5383874 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:5383874A>G ENST00000158771.4 - 5 411 c.356T>C c.(355-357)tTc>tCc p.F119S DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron NM_016041.3 NP_057125.2 Q9GZP9 DERL2_HUMAN derlin 2 119 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding large_intestine(3) 3 CTGGCCCAAGAAAACTAAGCT 0.443000 64 8 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 985546 985546 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:985546T>G ENST00000448903.2 + 8 1067 c.926T>G c.(925-927)cTc>cGc p.L309R AP2A2_ENST00000332231.5_Missense_Mutation_p.L310R|AP2A2_ENST00000534328.1_Missense_Mutation_p.L309R NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 309 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) AATGCCGTGCTCTTCGAGGCC 0.577000 22 23 0 0 1 0 0 LCE3D 84648 broad.mit.edu 37 1 152552221 152552221 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:152552221C>T ENST00000368787.3 - 2 248 c.192G>A c.(190-192)cgG>cgA p.R64R NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 64 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GCCTCTGGCGCCGGCATCGGT 0.682000 30 56 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30771580 30771580 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:30771580A>G ENST00000405659.1 + 10 2494 c.1785A>G c.(1783-1785)ctA>ctG p.L595L RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Silent_p.L595L Q569K6 CC157_HUMAN coiled-coil domain containing 157 595 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 TCCGGGTCCTACAGGAGGAGA 0.607000 17 80 0 0 1 0 0 CLN3 1201 broad.mit.edu 37 16 28497721 28497721 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:28497721G>A ENST00000569430.1 - 10 1443 c.624C>T c.(622-624)tcC>tcT p.S208S CLN3_ENST00000568224.1_Silent_p.S130S|CLN3_ENST00000359984.7_Silent_p.S208S|CLN3_ENST00000535392.1_Silent_p.S130S|CLN3_ENST00000567963.1_Silent_p.S208S|CLN3_ENST00000565316.1_Silent_p.S208S|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000395653.4_Silent_p.S108S|CLN3_ENST00000354630.5_Silent_p.S208S|CLN3_ENST00000357857.9_Silent_p.S154S|CLN3_ENST00000333496.9_Silent_p.S184S|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000360019.2_Silent_p.S208S|CLN3_ENST00000357806.7_Intron Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 208 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 TCTGCTGAGGGGAGAGGCCGG 0.682000 23 14 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1755352 1755352 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:1755352C>T ENST00000397196.2 + 5 1246 c.1014C>T c.(1012-1014)ttC>ttT p.F338F WNT5B_ENST00000310594.3_Silent_p.F338F|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Silent_p.F338F NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 338 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) ACTGCAAGTTCCACTGGTGCT 0.602000 22 44 0 0 1 0 0 C9orf64 84267 broad.mit.edu 37 9 86571209 86571209 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:86571209G>A ENST00000376344.3 - 1 423 c.207C>T c.(205-207)ttC>ttT p.F69F C9orf64_ENST00000314700.1_Intron|C9orf64_ENST00000376340.2_5'UTR NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 69 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TGTCTGTCACGAACACCCAGT 0.617000 39 31 0 0 1 0 0 PRR5L 79899 broad.mit.edu 37 11 36483943 36483943 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:36483943C>T ENST00000378867.3 + 10 1119 c.764C>T c.(763-765)tCc>tTc p.S255F PRR5L_ENST00000527487.1_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.S255F|PRR5L_ENST00000311599.5_Missense_Mutation_p.S182F|PRR5L_ENST00000389693.3_3'UTR NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 255 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 AACTATGCCTCCCCGATAACC 0.587000 27 70 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9400512 9400512 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:9400512G>A ENST00000378501.2 + 22 2089 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K PLCB4_ENST00000414679.2_Missense_Mutation_p.E704K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E692K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E704K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E692K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E692K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 692 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CCCCTTCTCTGAAACTCCTGT 0.438000 95 152 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599352 31599352 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31599352C>T ENST00000376033.2 + 16 3136 c.2902C>T c.(2902-2904)Ccc>Tcc p.P968S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P968S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 968 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCCTCCCAAGCCCCTCGAACA 0.612000 8 8 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283498 33283498 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:33283498G>A ENST00000431845.2 - 2 1347 c.1196C>T c.(1195-1197)tCa>tTa p.S399L ZBTB22_ENST00000418724.1_Missense_Mutation_p.S399L NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 TGGCCCCCCTGAGTCATCAAG 0.617000 108 213 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103322676 103322676 + Nonsense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:103322676A>T ENST00000424685.2 - 11 1335 c.1176T>A c.(1174-1176)taT>taA p.Y392* RELN_ENST00000343529.5_Nonsense_Mutation_p.Y392*|RELN_ENST00000428762.1_Nonsense_Mutation_p.Y392* P78509 RELN_HUMAN reelin 392 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTCCATGGAAATAAATGGAGT 0.438000 50 29 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42821111 42821111 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:42821111C>T ENST00000398600.2 + 16 2346 c.1321C>T c.(1321-1323)Cgt>Tgt p.R441C MX1_ENST00000455164.2_Missense_Mutation_p.R441C|MX1_ENST00000398598.3_Missense_Mutation_p.R441C|MX1_ENST00000288383.6_Missense_Mutation_p.R418C NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 441 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) AAATCAGTATCGTGGTAGAGA 0.373000 49 40 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44281867 44281867 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:44281867G>A ENST00000395749.2 - 10 845 c.769C>T c.(769-771)Cct>Tct p.P257S CAMK2B_ENST00000346990.4_Missense_Mutation_p.P257S|CAMK2B_ENST00000347193.4_Missense_Mutation_p.P257S|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P257S|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P257S|CAMK2B_ENST00000353625.4_Missense_Mutation_p.P257S|CAMK2B_ENST00000258682.6_Missense_Mutation_p.P257S|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P257S|CAMK2B_ENST00000502837.2_Missense_Mutation_p.P128S|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P257S|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P257S NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 257 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CGCTTGGCAGGGTTGATGGTC 0.632000 68 80 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648722 20648722 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:20648722C>T ENST00000219151.4 - 8 1235 c.25G>A c.(25-27)Ggg>Agg p.G9R ACSM1_ENST00000520010.1_Missense_Mutation_p.G390R|ACSM1_ENST00000307493.4_Missense_Mutation_p.G390R Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 390 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GTGGCCTTCCCCATGAAACCC 0.537000 18 59 0 0 1 0 0 MRPL3 11222 broad.mit.edu 37 3 131219361 131219361 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:131219361G>A ENST00000264995.3 - 3 429 c.282C>T c.(280-282)tcC>tcT p.S94S MRPL3_ENST00000425847.2_Silent_p.S121S NM_007208.3 NP_009139.1 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 94 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 CAACTCTAAAGGAACCTGGCA 0.398000 25 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498632 179498632 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:179498632C>T ENST00000589042.1 - 231 42818 c.42594G>A c.(42592-42594)ttG>ttA p.L14198L TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L11630L|TTN_ENST00000359218.5_Silent_p.L5258L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.L5133L|TTN_ENST00000342175.6_Silent_p.L5325L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.L12557L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12557 Fibronectin type-III 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTCATTTCCAATTTGTGAG 0.398000 3 64 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595523 36595523 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:36595523G>A ENST00000299440.5 + 2 781 c.669G>A c.(667-669)agG>agA p.R223R NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 223 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GACTCAAGAGGAAGAGTCTTC 0.537000 Familial Hemophagocytic Lymphohistiocytosis 15 34 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9248140 9248140 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:9248140G>A ENST00000318602.7 - 16 2315 c.2008C>T c.(2008-2010)Cta>Tta p.L670L NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 670 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTTACCTCTAGGAAGCTGTAC 0.353000 14 7 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903571 5903571 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:5903571G>A ENST00000378961.4 + 4 985 c.781G>A c.(781-783)Gaa>Aaa p.E261K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 261 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CCGAAGCCAGGAAGAATCTGA 0.597000 13 8 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113705054 113705054 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:113705054G>A ENST00000003302.4 - 6 606 c.538C>T c.(538-540)Ctc>Ttc p.L180F USP28_ENST00000545540.1_Missense_Mutation_p.L55F|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.L180F|USP28_ENST00000260188.5_Missense_Mutation_p.L180F NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 180 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AATTGAAAGAGAGACTGAAAT 0.318000 6 3 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647696 51647696 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:51647696G>A ENST00000317643.6 + 2 536 c.467G>A c.(466-468)gGt>gAt p.G156D SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 156 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTTATCCCCGGTACCCTGGAG 0.612000 96 128 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532555 84532555 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:84532555G>A ENST00000527857.1 + 0 2577 NR_026851.1 AATGAGGGTCGAATGCCTGGG 0.438000 12 20 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735130 55735130 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:55735130G>A ENST00000312345.2 - 1 860 c.810C>T c.(808-810)acC>acT p.T270T NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GAATCAGAATGGTGTAGAAAA 0.348000 9 21 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060109 111060109 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:111060109C>T ENST00000369771.2 - 1 1688 c.1301G>A c.(1300-1302)gGg>gAg p.G434E NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 434 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CACAATCTTCCCCCCTGGGGT 0.562000 27 13 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7621770 7621770 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:7621770C>T ENST00000256861.6 - 9 1444 c.1366G>A c.(1366-1368)Ggc>Agc p.G456S ITIH5_ENST00000397146.2_Missense_Mutation_p.G456S|ITIH5_ENST00000397145.2_Missense_Mutation_p.G456S|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.G238S|ITIH5_ENST00000298441.6_Missense_Mutation_p.G242S NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 456 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CGTGTGAGGCCACAGTTCTCC 0.622000 45 51 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18149956 18149956 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:18149956G>A ENST00000327031.4 - 23 3228 c.3003C>T c.(3001-3003)acC>acT p.T1001T FLII_ENST00000379450.4_Silent_p.T915T|FLII_ENST00000545457.2_Silent_p.T946T|FLII_ENST00000579294.1_Silent_p.T990T|FLII_ENST00000578558.1_Intron NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 1001 multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GCAGGCTGAAGGTGAAGGTGA 0.637000 17 15 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169144387 169144387 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:169144387G>A ENST00000256935.8 + 21 2111 c.e21-1 DOCK2_ENST00000540750.1_Splice_Site|DOCK2_ENST00000520908.1_Splice_Site NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCTTCCTCAGATTTACATAA 0.463000 48 12 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52619656 52619656 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:52619656G>A ENST00000600228.1 - 4 1022 c.761C>T c.(760-762)tCa>tTa p.S254L ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TACAAAATATGAATTTTTTCT 0.398000 22 29 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11097628 11097628 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:11097628C>T ENST00000358026.2 + 5 1092 c.808C>T c.(808-810)Ccc>Tcc p.P270S SMARCA4_ENST00000590574.1_Missense_Mutation_p.P270S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P270S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P270S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P270S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P270S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P270S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P270S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P270S NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 270 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGGCGTGCCCCCCGGGATGCC 0.622000 """F, N, Mis""" NSCLC 35 37 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115337808 115337808 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:115337808C>T ENST00000351270.3 + 6 568 c.472C>T c.(472-474)Ccc>Tcc p.P158S HABP2_ENST00000541666.1_Missense_Mutation_p.P158S|HABP2_ENST00000542051.1_Missense_Mutation_p.P132S|HABP2_ENST00000537906.1_Silent_p.T146T NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 158 EGF-like 3. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CAGGCCAAACCCCTGCCAGAA 0.532000 26 39 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173933295 173933295 + Silent SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:173933295G>C ENST00000367696.2 - 11 1998 c.1647C>G c.(1645-1647)gcC>gcG p.A549A RC3H1_ENST00000258349.4_Silent_p.A549A|RC3H1_ENST00000367694.2_Silent_p.A549A Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 549 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TCACAGGTAAGGCAGAAATAC 0.398000 53 48 0 0 1 0 0 TAC4 255061 broad.mit.edu 37 17 47921472 47921472 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:47921472C>T ENST00000334568.4 - 2 170 c.171G>A c.(169-171)acG>acA p.T57T TAC4_ENST00000436235.1_Silent_p.T51T|TAC4_ENST00000352793.2_Silent_p.T51T|TAC4_ENST00000326219.5_Silent_p.T51T|TAC4_ENST00000398154.1_Silent_p.T51T NM_170685.2 NP_733786.2 Q86UU9 TKN4_HUMAN tachykinin 4 (hemokinin) 57 regulation of blood pressure extracellular region p.T57T(1) breast(1)|large_intestine(1)|lung(3) 5 TTGCCTTGCCCGTCTTCACCT 0.577000 189 23 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272113 47272113 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:47272113G>A ENST00000377073.3 + 4 727 c.641G>A c.(640-642)gGg>gAg p.G214E NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 214 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 ACTCACACAGGGGAGAGGCCC 0.443000 22 6 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2115518 2115518 + Splice_Site SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:2115518A>G ENST00000219476.3 + 16 2229 c.e16-1 TSC2_ENST00000350773.4_Splice_Site|TSC2_ENST00000568454.1_Splice_Site|TSC2_ENST00000353929.4_Splice_Site|TSC2_ENST00000401874.2_Splice_Site|TSC2_ENST00000439673.2_Splice_Site|TSC2_ENST00000382538.6_Splice_Site NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) TTCTCTTCAAAGGTGATGGCC 0.527000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 12 276 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52516637 52516637 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:52516637G>A ENST00000242839.4 - 15 3453 c.3297C>T c.(3295-3297)ggC>ggT p.G1099G ATP7B_ENST00000448424.2_Silent_p.G1021G|ATP7B_ENST00000418097.2_Silent_p.G1034G|ATP7B_ENST00000400366.3_Silent_p.G988G|ATP7B_ENST00000400370.3_Silent_p.G669G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Silent_p.G310G|ATP7B_ENST00000344297.5_Silent_p.G892G NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1099 G -> S (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CAATTCCACAGCCTGGCACTG 0.577000 Wilson disease 47 99 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110735143 110735143 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:110735143C>T ENST00000331565.4 + 8 1607 c.1122C>T c.(1120-1122)atC>atT p.I374I NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 374 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CTGAGAAAATCCTAGGGTACC 0.557000 15 72 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51582882 51582882 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:51582882A>G ENST00000452682.1 + 8 957 c.705A>G c.(703-705)atA>atG p.I235M NCOA4_ENST00000374082.1_Missense_Mutation_p.I219M|NCOA4_ENST00000443446.1_Missense_Mutation_p.I219M|NCOA4_ENST00000414907.2_Missense_Mutation_p.I53M|NCOA4_ENST00000430396.2_Missense_Mutation_p.I119M|NCOA4_ENST00000374087.4_Missense_Mutation_p.I219M|NCOA4_ENST00000344348.6_Missense_Mutation_p.I219M|NCOA4_ENST00000438493.1_Missense_Mutation_p.I235M|NCOA4_ENST00000498586.1_3'UTR NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 219 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 CTCCTTACATACCCAGCACCG 0.483000 T RET papillary thyroid 7 37 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23926923 23926923 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:23926923G>A ENST00000402377.3 - 4 1570 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S ZNF681_ENST00000395385.3_Missense_Mutation_p.P408S NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CATTTGTAGGGTTTCTCTCCA 0.363000 27 57 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2524340 2524340 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:2524340G>A ENST00000288709.6 - 20 2146 c.1906C>T c.(1906-1908)Cgg>Tgg p.R636W MMEL1_ENST00000378412.3_Missense_Mutation_p.R645W|MMEL1_ENST00000502556.1_Missense_Mutation_p.R488W NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 645 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GACTGCTCCCGGAAGTGCTGG 0.607000 23 131 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180372715 180372715 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:180372715C>T ENST00000273654.4 - 13 1636 c.1017G>A c.(1015-1017)acG>acA p.T339T CCDC39_ENST00000442201.2_Silent_p.T255T Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 255 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTTTTTCTCTCGTTTCCTGCT 0.289000 3 8 0 0 1 0 0 TSTA3 7264 broad.mit.edu 37 8 144697044 144697044 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:144697044G>A ENST00000425753.2 - 4 406 c.303C>T c.(301-303)gcC>gcT p.A101A TSTA3_ENST00000529064.1_Silent_p.A101A NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 101 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) CCACCTCAAAGGCCGAGTGCA 0.612000 35 62 0 0 1 0 0 HOXA3 3200 broad.mit.edu 37 7 27149908 27149908 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:27149908C>T ENST00000396352.4 - 2 551 c.352G>A c.(352-354)Gcg>Acg p.A118T HOXA3_ENST00000317201.2_Missense_Mutation_p.A118T|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 118 Pro-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 ggcgggggcgcggcaggggta 0.736000 7 17 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846192 55846192 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:55846192C>T ENST00000322678.1 + 1 195 c.195C>T c.(193-195)tcC>tcT p.S65S RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 GAAATTTTTCCTTCTTAGAAG 0.398000 10 22 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422411 26422411 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:26422411G>A ENST00000335473.7 + 43 6721 c.6470_splice c.e43-1 p.R2157_splice MYO18B_ENST00000407587.2_Splice_Site_p.R2158_splice|MYO18B_ENST00000536101.1_Splice_Site_p.R2157_splice NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2157 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTTGGCACAGGATAAACGAAG 0.488000 109 164 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066340 9066340 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9066340G>A ENST00000397910.4 - 3 21309 c.21106C>T c.(21106-21108)Cct>Tct p.P7036S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7038 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACCCAGAAGGACCTGTTTGA 0.478000 38 59 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588665 140588665 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140588665G>A ENST00000239450.2 + 1 375 c.186G>A c.(184-186)cgG>cgA p.R62R PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 62 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTCTTCGCGGGGGGCTCGGG 0.507000 71 14 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25481291 25481291 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:25481291C>T ENST00000381884.4 - 6 1200 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K CENPJ_ENST00000545981.1_Missense_Mutation_p.E339K NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 339 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AAGTAATCTTCAAAGGTCTGT 0.338000 5 36 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70267599 70267599 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:70267599A>G ENST00000301843.8 + 11 1020 c.814A>G c.(814-816)Aaa>Gaa p.K272E CTTN_ENST00000376561.3_Intron|CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Intron NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 272 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TTTTGGAGGCAAATTCGGTGT 0.502000 129 282 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756838 56756838 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:56756838C>T ENST00000326855.2 + 1 492 c.450C>T c.(448-450)atC>atT p.I150I NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GTTCATACATCATGGGCTCAA 0.438000 31 54 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254876 30254876 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:30254876G>A ENST00000361644.2 + 5 1572 c.835G>A c.(835-837)Gcc>Acc p.A279T MAGEB3_ENST00000378986.1_Missense_Mutation_p.A279T NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 279 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 GGGTCCAAGAGCCCATGCTGA 0.488000 36 5 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44490150 44490150 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:44490150G>A ENST00000425708.2 - 7 1354 c.1013C>T c.(1012-1014)tCa>tTa p.S338L ZNF445_ENST00000396077.2_Missense_Mutation_p.S338L P59923 ZN445_HUMAN zinc finger protein 445 338 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) AGGACATCCTGATGACACAGC 0.403000 33 8 0 0 1 0 0 C2orf40 84417 broad.mit.edu 37 2 106694261 106694261 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:106694261G>A ENST00000409944.1 + 5 449 c.218G>A c.(217-219)cGa>cAa p.R73Q C2orf40_ENST00000238044.3_Missense_Mutation_p.R109Q Q9H1Z8 AUGN_HUMAN chromosome 2 open reading frame 40 109 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 AACAGAGATCGAAATGGACAT 0.453000 10 93 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19184164 19184164 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:19184164G>A ENST00000263200.10 - 25 3949 c.3877C>T c.(3877-3879)Cgt>Tgt p.R1293C CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1293C|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1293C NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1293 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) AAGTAGCCACGATCCTAGCAG 0.622000 T ? ALCL 17 21 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116048881 116048881 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:116048881G>A ENST00000603594.1 + 12 2076 c.1755G>A c.(1753-1755)ctG>ctA p.L585L VWA2_ENST00000392982.3_Silent_p.L585L NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 585 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) CCTTCGGGCTGGACACCAAAC 0.642000 13 20 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101544502 101544502 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:101544502G>A ENST00000370449.4 + 2 284 c.171G>A c.(169-171)aaG>aaA p.K57K ABCC2_ENST00000370434.1_Silent_p.K57K NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 57 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCAGGACCAAGAGATCCTCTA 0.468000 32 30 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182521566 182521566 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:182521566C>T ENST00000410087.3 - 1 268 c.168G>A c.(166-168)agG>agA p.R56R CERKL_ENST00000374970.2_Silent_p.R56R|CERKL_ENST00000409440.3_Silent_p.R56R|CERKL_ENST00000339098.5_Silent_p.R56R|CERKL_ENST00000374969.2_Silent_p.R56R|CERKL_ENST00000479558.1_Intron NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 56 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) CACAACTGTCCCTCCCGATCT 0.711000 6 71 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33067434 33067434 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:33067434G>A ENST00000374864.4 + 18 1871 c.e18-1 ITCH_ENST00000483727.1_Splice_Site|ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000262650.6_Splice_Site NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 TTTGATTTCAGAGAATGGTTC 0.378000 4 26 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36064993 36064993 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:36064993T>C ENST00000258840.6 - 37 6069 c.5679A>G c.(5677-5679)gtA>gtG p.V1893V RALGAPA1_ENST00000307138.6_Silent_p.V1846V|RALGAPA1_ENST00000389698.3_Silent_p.V1846V|RALGAPA1_ENST00000382366.3_Silent_p.V1859V Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1846 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTGTAAGATTTACCTAGAAGT 0.328000 10 3 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8661987 8661987 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:8661987C>T ENST00000270328.4 - 7 1190 c.924G>A c.(922-924)ggG>ggA p.G308G ADAMTS10_ENST00000597188.1_Silent_p.G308G Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 308 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCAGGGACTTCCCGGCATGGT 0.582000 64 76 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141460054 141460054 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:141460054T>A ENST00000389484.3 - 38 7063 c.6092A>T c.(6091-6093)aAg>aTg p.K2031M NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2031 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGGACAACCTTCTCTGAGCC 0.418000 TSP Lung(27;0.18) 19 12 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164396 139164396 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:139164396G>A ENST00000395297.1 - 13 2492 c.2322C>T c.(2320-2322)ccC>ccT p.P774P NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 774 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACTGATGTGGGGAGCAGATA 0.522000 HNSCC(54;0.14) 32 40 0 0 1 0 0 POLD4 57804 broad.mit.edu 37 11 67120853 67120853 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:67120853G>A ENST00000312419.3 - 1 164 c.18C>T c.(16-18)ctC>ctT p.L6L POLD4_ENST00000539074.1_Silent_p.L6L|AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_Intron NM_021173.4 NP_066996.3 Q9HCU8 DPOD4_HUMAN polymerase (DNA-directed), delta 4, accessory subunit 6 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(15;3.08e-06) AATCAGTGATGAGCCGCTTCC 0.662000 18 37 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 2 9 0 0 1 0 0 NFS1 9054 broad.mit.edu 37 20 34263027 34263027 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:34263027C>A ENST00000374092.4 - 8 958 c.888G>T c.(886-888)gtG>gtT p.V296V NFS1_ENST00000374085.1_Silent_p.V236V|NFS1_ENST00000397425.1_Silent_p.V236V|NFS1_ENST00000541387.1_Silent_p.V245V|NFS1_ENST00000540053.1_Silent_p.V94V NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 296 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) AGGGTGTGGGCACTGTCCCAG 0.657000 71 86 6.47592e-44 6.68319e-44 1 1 0 RANBP3 8498 broad.mit.edu 37 19 5923823 5923823 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:5923823C>T ENST00000340578.6 - 12 1156 c.1099_splice c.e12+1 p.E367_splice RANBP3_ENST00000541471.1_Splice_Site_p.E239_splice|RANBP3_ENST00000439268.2_Splice_Site_p.E362_splice|RANBP3_ENST00000034275.8_Splice_Site_p.E299_splice|RANBP3_ENST00000591092.1_Splice_Site_p.E294_splice NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 367 E -> G (in Ref. 1; CAA69957). intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 GCTAACATACCTTTCTCAGGG 0.592000 20 21 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638907 55638907 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:55638907T>G ENST00000370830.3 - 4 1665 c.967A>C c.(967-969)Aat>Cat p.N323H BMP5_ENST00000446683.2_Missense_Mutation_p.N323H NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 323 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CGGTTTTGATTTTTTCGTTTG 0.473000 19 36 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140744261 140744261 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:140744261G>A ENST00000389328.4 - 22 3548 c.3534C>T c.(3532-3534)acC>acT p.T1178T TRAPPC9_ENST00000438773.2_Silent_p.T1080T|TRAPPC9_ENST00000389327.3_Silent_p.T1071T|TRAPPC9_ENST00000522504.1_5'UTR NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 1080 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CGAAGGAGACGGTGTCGTGCA 0.652000 4 14 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900372 151900372 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:151900372G>A ENST00000393900.3 - 3 782 c.429C>T c.(427-429)ttC>ttT p.F143F MAGEA12_ENST00000393869.3_Silent_p.F143F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.F143F NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 143 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AGAAGTCCTGGAAATTTCTGA 0.507000 75 8 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31115691 31115691 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:31115691C>T ENST00000597505.1 - 14 2023 c.2024G>A c.(2023-2025)gGa>gAa p.G675E DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 91 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ACTCCACTTTCCAATGGAAAC 0.448000 16 26 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 224008966 224008966 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:224008966G>A ENST00000343537.7 - 2 422 c.131C>T c.(130-132)cCc>cTc p.P44L TP53BP2_ENST00000391878.2_5'UTR NM_001031685.2 NP_001026855.2 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 38 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) ACTCTCGCCGGGTTCTTTGCA 0.468000 87 7 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310004 24310004 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:24310004T>C ENST00000357002.4 + 4 1317 c.1202T>C c.(1201-1203)gTt>gCt p.V401A ZNF254_ENST00000342944.6_Missense_Mutation_p.V316A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 401 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATAATTCATGTTGGAGAGAAA 0.338000 2 9 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126155217 126155217 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:126155217G>A ENST00000393425.1 + 17 1908 c.1809G>A c.(1807-1809)gaG>gaA p.E603E CCDC37_ENST00000505024.1_Silent_p.E603E|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000352312.1_Silent_p.E602E Q494V2 CCD37_HUMAN coiled-coil domain containing 37 602 Poly-Glu. NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) TGGACAAGGAGGAGGAGGAGC 0.527000 37 58 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48267270 48267270 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:48267270C>T ENST00000302329.3 + 1 663 c.615C>T c.(613-615)gtC>gtT p.V205V NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GTTTTGGGGTCCTCTTAGCAT 0.527000 20 45 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69318946 69318946 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:69318946G>A ENST00000260364.5 + 3 376 c.75G>A c.(73-75)ggG>ggA p.G25G NOX5_ENST00000388866.3_Silent_p.G43G|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Silent_p.G36G|NOX5_ENST00000448182.3_Silent_p.G25G|NOX5_ENST00000530406.2_Silent_p.G43G Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 43 N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GAGAAGATGGGGAGATCAGCC 0.537000 35 12 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25432759 25432759 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:25432759G>A ENST00000424208.1 + 0 761 SNORD115-10_ENST00000365073.1_RNA NR_003305.1 ATTACGCTGAGGCCCAGCCTA 0.493000 237 31 0 0 1 0 0 PSMA7 5688 broad.mit.edu 37 20 60712006 60712006 + Splice_Site SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:60712006C>A ENST00000370873.4 - 7 781 c.e7-1 PSMA7_ENST00000370861.1_Splice_Site|PSMA7_ENST00000484488.1_Splice_Site NM_002792.3 NP_002783.1 O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity large_intestine(1)|lung(2) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GATTTAAAATCTATAGAAAAA 0.398000 OREG0026105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 33 1.10513e-12 1.12926e-12 1 1 0 EPHA2 1969 broad.mit.edu 37 1 16464675 16464675 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:16464675G>A ENST00000358432.5 - 5 1139 c.985C>T c.(985-987)Ccc>Tcc p.P329S NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 329 Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGGGCGGAGGGGGGTCCTGCA 0.667000 5 30 0 0 1 0 0 SH3GL2 6456 broad.mit.edu 37 9 17795610 17795610 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:17795610G>A ENST00000380607.4 + 9 1048 c.928G>A c.(928-930)Gga>Aga p.G310R SH3GL2_ENST00000537391.1_Missense_Mutation_p.G263R NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 310 SH3. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AGGGGAGTTGGGATTTAAAGA 0.478000 8 6 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81972454 81972454 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:81972454C>T ENST00000359376.3 + 29 3461 c.3247C>T c.(3247-3249)Ccc>Tcc p.P1083S NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 1083 C2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TATTGCCTGTCCCTTTGTAGA 0.527000 38 18 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423088 33423088 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:33423088C>T ENST00000395064.2 + 2 479 c.211C>T c.(211-213)Cct>Tct p.P71S NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 71 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 TGCTGCCTCTCCTTACTTCCA 0.557000 93 343 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073356 17073356 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:17073356C>T ENST00000359963.3 - 1 344 c.85G>A c.(85-87)Gag>Aag p.E29K NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 29 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGGGCTCCTCCTCTTCTGGA 0.662000 44 59 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109352090 109352090 + Missense_Mutation SNP C C T rs140279690 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:109352090C>T ENST00000283195.6 + 5 634 c.508C>T c.(508-510)Cgg>Tgg p.R170W NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 170 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGTGAACATCCGGCTAGTGGA 0.433000 132 191 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203681256 203681256 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:203681256G>A ENST00000357681.5 + 13 3323 c.2200G>A c.(2200-2202)Gag>Aag p.E734K ATP2B4_ENST00000367218.3_Missense_Mutation_p.E734K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E734K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E734K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E722K NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 734 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CATCCGCAACGAGAAAGGCGA 0.562000 66 4 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13776634 13776634 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:13776634C>T ENST00000265104.4 - 55 9391 c.9287G>A c.(9286-9288)cGa>cAa p.R3096Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3096 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGCTCTGTTTCGAAATTTCTC 0.478000 Kartagener syndrome 4 33 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24652710 24652710 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:24652710G>A ENST00000354464.6 - 21 2249 c.2073C>T c.(2071-2073)ttC>ttT p.F691F RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 691 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) TGTATGGAAGGAAGGCCACAC 0.587000 7 19 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180022198 180022198 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:180022198C>T ENST00000367607.3 + 23 5304 c.4886C>T c.(4885-4887)cCt>cTt p.P1629L NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1629 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCATTACTACCTTCAGAGAGT 0.373000 28 3 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7727857 7727857 + RNA SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:7727857T>C ENST00000454689.1 - 0 84 RP11-35J10.5_ENST00000527565.1_lincRNA|OVCH2_ENST00000534193.1_RNA|RP11-35J10.4_ENST00000527443.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) AACTTACCTTTGGGGAGCGAA 0.393000 3 5 0 0 1 0 0 ACKR3 57007 broad.mit.edu 37 2 237490146 237490146 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:237490146C>T ENST00000272928.3 + 2 1348 c.1038C>T c.(1036-1038)gcC>gcT p.A346A NM_020311.2 NP_064707.1 atypical chemokine receptor 3 TCATCGATGCCTCCAGAGTCT 0.517000 35 11 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36671045 36671045 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:36671045C>T ENST00000543751.1 + 15 1605 c.1460C>T c.(1459-1461)cCa>cTa p.P487L MELK_ENST00000538311.1_Missense_Mutation_p.P325L|MELK_ENST00000541717.1_Missense_Mutation_p.P478L|MELK_ENST00000536860.1_Missense_Mutation_p.P471L|MELK_ENST00000536987.1_Missense_Mutation_p.P388L|MELK_ENST00000545008.1_Missense_Mutation_p.P448L|MELK_ENST00000298048.2_Missense_Mutation_p.P519L|MELK_ENST00000536329.1_Missense_Mutation_p.P448L NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 519 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) GAGGAGACTCCAAAAAGAAAG 0.502000 28 3 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263990 1263990 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:1263990G>A ENST00000447027.1 + 31 5947 c.5889G>A c.(5887-5889)ggG>ggA p.G1963G RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.G1960G Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1960 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAGTCCAGGGACTGCAACCG 0.637000 105 86 0 0 1 0 0 NARS 4677 broad.mit.edu 37 18 55274437 55274437 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:55274437G>A ENST00000256854.5 - 9 1385 c.930C>T c.(928-930)gcC>gcT p.A310A NARS_ENST00000423481.2_Silent_p.A61A NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 310 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) CATCTCCCAGGGCTGGGAGGC 0.463000 36 46 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204091518 204091518 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:204091518C>T ENST00000367204.1 + 9 1124 c.1015C>T c.(1015-1017)Ctg>Ttg p.L339L NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 339 Pro-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CCCCCCGAGCCTGCCTCTGGG 0.677000 8 0 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953163 56953163 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:56953163G>A ENST00000504904.3 - 7 1920 c.1201C>T c.(1201-1203)Ctt>Ttt p.L401F ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.L401F|ZNF667_ENST00000342634.3_Missense_Mutation_p.L529F Q5HYK9 ZN667_HUMAN zinc finger protein 667 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TGTTGAATAAGGGATGAATGC 0.358000 12 13 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310230 24310230 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:24310230C>A ENST00000357002.4 + 4 1543 c.1428C>A c.(1426-1428)acC>acA p.T476T ZNF254_ENST00000342944.6_Silent_p.T391T NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 476 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GGTCCTCAACCCTAACTAGAC 0.393000 5 55 0.184627 0.184755 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124341761 124341761 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:124341761G>A ENST00000409039.3 + 36 6268 c.6243G>A c.(6241-6243)ctG>ctA p.L2081L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2081 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCAGGTCCTGGAGGAGAACG 0.527000 23 39 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201779105 201779105 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:201779105C>T ENST00000367296.4 + 23 4853 c.4433C>T c.(4432-4434)aCc>aTc p.T1478I NAV1_ENST00000295624.6_Missense_Mutation_p.T1475I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.T1431I|NAV1_ENST00000367300.3_Missense_Mutation_p.T1418I|NAV1_ENST00000367295.1_Missense_Mutation_p.T1084I|NAV1_ENST00000367297.4_Missense_Mutation_p.T1470I NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1478 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCAGCCTCTACCCTGGGACTA 0.483000 25 77 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70490067 70490067 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:70490067G>A ENST00000381280.4 + 11 1447 c.1194G>A c.(1192-1194)aaG>aaA p.K398K SMOC1_ENST00000361956.3_Silent_p.K398K NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 398 EF-hand 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding p.K398N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CCAAGCCCAAGAAATGTGCCC 0.512000 101 10 0 0 1 0 0 LDB1 8861 broad.mit.edu 37 10 103869429 103869429 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:103869429G>A ENST00000361198.5 - 8 1175 c.552C>T c.(550-552)ccC>ccT p.P184P LDB1_ENST00000425280.1_Silent_p.P220P NM_003893.4 NP_003884.1 Q86U70 LDB1_HUMAN LIM domain binding 1 220 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) CCAACATCTGGGGGTCTTGGG 0.532000 35 52 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1080336 1080336 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:1080336G>A ENST00000313093.2 + 14 2017 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K HMHA1_ENST00000543365.1_Missense_Mutation_p.E479K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E436K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E231K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E623K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E600K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E612K NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 596 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCCCAGAAGAAGGCGGGTG 0.706000 13 30 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072047 34072047 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:34072047C>T ENST00000254466.6 - 6 2496 c.2469G>A c.(2467-2469)aaG>aaA p.K823K GAS2L2_ENST00000587565.1_Silent_p.K807K NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 823 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTCCCCTCCCTTGCTGCCCA 0.632000 75 10 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79354082 79354082 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:79354082C>T ENST00000350881.2 + 4 784 c.594C>T c.(592-594)gcC>gcT p.A198A CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.A107A NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 198 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TCCAGGTGGCCAGCCTGCAAG 0.527000 8 3 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72916645 72916645 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:72916645T>A ENST00000319642.1 - 2 468 c.286A>T c.(286-288)Aac>Tac p.N96Y NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 96 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) TGGTAGTCGTTGTCTAGGCAC 0.607000 98 12 0 0 1 0 0 ZWILCH 55055 broad.mit.edu 37 15 66821880 66821880 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:66821880A>T ENST00000307897.5 + 12 1504 c.1124A>T c.(1123-1125)cAg>cTg p.Q375L ZWILCH_ENST00000565627.1_Missense_Mutation_p.Q261L|ZWILCH_ENST00000535141.2_Missense_Mutation_p.Q261L|ZWILCH_ENST00000446801.2_Missense_Mutation_p.Q261L NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 375 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 TTGATCATCCAGAGTCTACAA 0.398000 74 8 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2831998 2831998 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:2831998C>T ENST00000520002.1 - 57 9273 c.8718G>A c.(8716-8718)tgG>tgA p.W2906* CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W2847*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W2905*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W2848*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W2848*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.W2906* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2906 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTGCCCCGCTCCAGTGACTGT 0.502000 26 38 0 0 1 0 0 SYNGR4 23546 broad.mit.edu 37 19 48879538 48879538 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:48879538C>T ENST00000344846.2 + 5 918 c.668C>T c.(667-669)cCa>cTa p.P223L SYNGR4_ENST00000601610.1_3'UTR NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 223 integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CTGACCGCTCCAAAGTCCCCC 0.537000 21 41 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497604 52497604 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:52497604G>A ENST00000602063.1 - 6 1074 c.725C>T c.(724-726)tCc>tTc p.S242F ZNF615_ENST00000376716.5_Missense_Mutation_p.S242F|ZNF615_ENST00000594083.1_Missense_Mutation_p.S253F|ZNF615_ENST00000598071.1_Missense_Mutation_p.S253F|ZNF615_ENST00000391795.3_Missense_Mutation_p.S247F Q8N8J6 ZN615_HUMAN zinc finger protein 615 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GGATTTTCTGGAGAAAGCTTT 0.408000 48 63 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71134991 71134991 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:71134991G>A ENST00000333538.5 + 8 1935 c.1301G>A c.(1300-1302)aGa>aAa p.R434K WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 434 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTCTCCGAAAGAAGAGCATTA 0.463000 24 61 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853291 70853291 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:70853291C>T ENST00000333538.5 + 3 1127 c.493C>T c.(493-495)Ctg>Ttg p.L165L WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 165 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GAACGAGGCCCTGTCGGTGAT 0.537000 57 44 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37264484 37264484 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:37264484C>T ENST00000310758.4 - 9 1348 c.701_splice c.e9+1 p.G234_splice ELMO1_ENST00000448602.1_Splice_Site_p.G234_splice|ELMO1_ENST00000442504.1_Splice_Site_p.G234_splice NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 234 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GCATGCTTACCCTTGCAGGTG 0.493000 42 111 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28501757 28501757 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:28501757C>T ENST00000412168.2 + 5 568 c.479C>T c.(478-480)tCt>tTt p.S160F GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 160 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) CCTCATCCCTCTGAGATTTTG 0.453000 53 131 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100970981 100970981 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:100970981G>A ENST00000375066.5 - 9 2210 c.2119C>T c.(2119-2121)Ccc>Tcc p.P707S TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.P489S|TBC1D2_ENST00000375064.1_Missense_Mutation_p.P707S|TBC1D2_ENST00000375063.1_Missense_Mutation_p.P247S NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 707 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCGATGGTGGGGTTCTGCCAG 0.602000 20 44 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23901907 23901907 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:23901907C>T ENST00000355349.3 - 5 605 c.443G>A c.(442-444)aGc>aAc p.S148N NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 148 Myosin head-like. S -> I (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGGGGCCTCGCTCCTCTTCTT 0.597000 118 15 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130854363 130854363 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:130854363C>T ENST00000373066.5 + 1 621 c.214C>T c.(214-216)Cct>Tct p.P72S SLC25A25_ENST00000373069.5_Intron|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P72S|SLC25A25_ENST00000373068.2_Intron NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 52 EF-hand 1. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 AGAGCAGTTTCCTAAGGTAAT 0.522000 16 22 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10136028 10136028 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:10136028G>A ENST00000324907.9 + 13 1657 c.1521G>A c.(1519-1521)ccG>ccA p.P507P GRHL1_ENST00000324883.5_Silent_p.P318P|GRHL1_ENST00000405379.2_Silent_p.P507P|GRHL1_ENST00000480736.1_5'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 507 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) AAAGGGGGCCGTACGGCACAG 0.468000 4 270 0 0 1 0 0 TRIP10 9322 broad.mit.edu 37 19 6750333 6750333 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:6750333C>T ENST00000600428.1 + 12 1580 c.934C>T c.(934-936)Ctt>Ttt p.L312F TRIP10_ENST00000313285.8_Missense_Mutation_p.L420F|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.L420F|TRIP10_ENST00000313244.9_Missense_Mutation_p.L476F Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 476 Interaction with CDC42.|Interaction with PDE6G (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 AAGTCGAGTCCTTAGCAACCG 0.667000 66 76 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99575609 99575609 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:99575609C>T ENST00000376460.1 - 5 513 c.433G>A c.(433-435)Gat>Aat p.D145N DOCK9_ENST00000339416.2_Missense_Mutation_p.D146N|DOCK9_ENST00000448493.2_Missense_Mutation_p.D157N|DOCK9_ENST00000442173.1_Missense_Mutation_p.D145N NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 146 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGAAGTTTATCCAACTTGACC 0.403000 44 91 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31617941 31617941 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:31617941T>C ENST00000295770.2 + 2 577 c.368T>C c.(367-369)tTa>tCa p.L123S STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 123 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TATGAATTTTTAAATTGGTTT 0.289000 27 8 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594481 41594481 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:41594481G>A ENST00000330436.3 + 1 105 c.105G>A c.(103-105)ccG>ccA p.P35P NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 35 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AGCTGCCTCCGGGACCCACCC 0.582000 40 54 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413978 105413978 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:105413978C>T ENST00000333244.5 - 7 7929 c.7810G>A c.(7810-7812)Gcc>Acc p.A2604T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2604 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACATCGGGGGCTGTCACTTCC 0.627000 159 22 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123130369 123130369 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:123130369C>T ENST00000264501.4 + 18 2181 c.1808C>T c.(1807-1809)tCt>tTt p.S603F KIAA1109_ENST00000388738.3_Missense_Mutation_p.S603F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S603F|KIAA1109_ENST00000495260.1_Intron Q2LD37 K1109_HUMAN KIAA1109 603 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGTAAATATTCTTTATTTATG 0.318000 7 25 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46318953 46318953 + Missense_Mutation SNP C C T rs139603157 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:46318953C>T ENST00000359930.4 - 5 1505 c.654G>A c.(652-654)atG>atA p.M218I SULF2_ENST00000467815.1_Missense_Mutation_p.M218I|SULF2_ENST00000484875.1_Missense_Mutation_p.M218I|SULF2_ENST00000361612.4_Missense_Mutation_p.M218I NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 218 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GGCTGATGACCATGAGGACTG 0.572000 59 56 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76506498 76506498 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:76506498C>T ENST00000389840.5 - 27 4316 c.4192G>A c.(4192-4194)Gac>Aac p.D1398N DNAH17_ENST00000585328.1_Missense_Mutation_p.D1399N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACGGCCTTGTCCACGATGTTG 0.542000 75 170 0 0 1 0 0 UBE2D4 51619 broad.mit.edu 37 7 43978038 43978038 + Silent SNP C C T rs146582539 byFrequency TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:43978038C>T ENST00000222402.2 + 2 122 c.33C>T c.(31-33)acC>acT p.T11T UBE2D4_ENST00000446008.1_Silent_p.T11T|UBE2D4_ENST00000394798.4_5'UTR NM_015983.3 NP_057067.1 Q9Y2X8 UB2D4_HUMAN ubiquitin-conjugating enzyme E2D 4 (putative) 11 protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|large_intestine(2)|lung(1)|pancreas(1) 5 AGGAATTAACCGACTTGCAGA 0.488000 47 173 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24359083 24359083 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:24359083C>T ENST00000175238.6 + 20 2285 c.2202C>T c.(2200-2202)ttC>ttT p.F734F ADAM7_ENST00000520720.1_Silent_p.F506F|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.F734F|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 734 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AAATTCATTTCCTAAATGTAA 0.383000 22 22 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69120344 69120344 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:69120344C>T ENST00000229179.4 + 19 1974 c.1642C>T c.(1642-1644)Cgc>Tgc p.R548C NUP107_ENST00000378905.2_Missense_Mutation_p.R397C|NUP107_ENST00000539906.1_Missense_Mutation_p.R519C NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 548 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) ACACCTGCTTCGCTTTATGAC 0.378000 29 38 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063255 9063255 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9063255G>A ENST00000397910.4 - 3 24394 c.24191C>T c.(24190-24192)tCc>tTc p.S8064F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8066 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCAGAACTGGAGGTCCCCAC 0.473000 17 28 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32140250 32140250 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:32140250G>A ENST00000312561.4 + 5 5494 c.5080G>A c.(5080-5082)Gag>Aag p.E1694K KIAA1551_ENST00000535596.1_3'UTR NM_018169.3 NP_060639.3 KIAA1551 AGACAGCCAAGAGAGAGGTAA 0.294000 12 15 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766169 57766169 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:57766169C>T ENST00000371030.2 + 1 95 c.95C>T c.(94-96)tCa>tTa p.S32L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 32 Pro-rich. intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGCCAGGCCTCACCTCACCTG 0.697000 20 24 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103271215 103271215 + Nonsense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:103271215G>T ENST00000520539.1 - 57 8705 c.8099C>A c.(8098-8100)tCa>tAa p.S2700* UBR5_ENST00000518205.1_Nonsense_Mutation_p.S428*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.S2699*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.S2693* NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2700 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGTCCTACCTGATTCATCATT 0.343000 12 40 3.52763e-06 3.56696e-06 1 1 0 ARHGEF25 115557 broad.mit.edu 37 12 58010182 58010182 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:58010182G>A ENST00000286494.4 + 14 1996 c.1536G>A c.(1534-1536)caG>caA p.Q512Q ARHGEF25_ENST00000333972.7_Silent_p.Q551Q|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 512 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 ATCAGGCCCAGGGCAGCACAC 0.602000 15 43 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117914376 117914376 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:117914376C>T ENST00000425217.1 - 17 2442 c.2388G>A c.(2386-2388)caG>caA p.Q796Q KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.Q825Q NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 825 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCAGCCATTCTGGATGCGCA 0.587000 6 9 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98559063 98559063 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:98559063C>T ENST00000359863.4 + 45 6857 c.6648C>T c.(6646-6648)ctC>ctT p.L2216L TRRAP_ENST00000355540.3_Silent_p.L2198L|TRRAP_ENST00000446306.3_Silent_p.L2197L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2216 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACAGCCTTCTCTCGCGCCTGA 0.562000 41 89 0 0 1 0 0 MRPS18C 51023 broad.mit.edu 37 4 84377277 84377277 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:84377277T>C ENST00000295491.4 + 1 160 c.47T>C c.(46-48)tTg>tCg p.L16S MRPS18C_ENST00000507019.1_Missense_Mutation_p.L16S|MRPS18C_ENST00000507349.1_Missense_Mutation_p.L16S NM_016067.2 NP_057151.1 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C 16 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) AGGAAGAAGTTGACACACTTG 0.527000 36 216 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809477 18809477 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:18809477C>G ENST00000400664.1 + 1 2054 c.2002C>G c.(2002-2004)Cgc>Ggc p.R668G NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 668 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAGCAAGGACCGCACGGCCGA 0.687000 15 33 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 40982966 40982966 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:40982966C>T ENST00000324545.7 + 2 718 c.85C>T c.(85-87)Caa>Taa p.Q29* USP9X_ENST00000378308.2_Nonsense_Mutation_p.Q29* NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 29 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GCCCCCCCTCCAACAGAATCA 0.557000 3 15 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137715022 137715022 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:137715022C>T ENST00000315930.6 - 5 1388 c.727G>A c.(727-729)Gaa>Aaa p.E243K FGF13_ENST00000441825.2_Missense_Mutation_p.E224K|FGF13_ENST00000370603.3_Missense_Mutation_p.E253K|FGF13_ENST00000541469.1_Missense_Mutation_p.E197K|FGF13_ENST00000305414.4_Missense_Mutation_p.E190K NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 243 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) TACGTTGATTCATTGTGGCTC 0.517000 75 9 0 0 1 0 0 ARL14 80117 broad.mit.edu 37 3 160395517 160395517 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:160395517C>T ENST00000320767.2 + 1 570 c.383C>T c.(382-384)cCt>cTt p.P128L NM_025047.2 NP_079323.1 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 128 small GTPase mediated signal transduction intracellular GTP binding lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) CAAGACATGCCTGGAGCTCTG 0.468000 39 48 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47855819 47855819 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:47855819T>C ENST00000371754.4 - 15 3898 c.3445A>G c.(3445-3447)Acc>Gcc p.T1149A DDX27_ENST00000371764.4_Missense_Mutation_p.V645A|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_5'UTR Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 0 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAGGCAGTGGTCCAAGAGCCC 0.493000 9 46 0 0 1 0 0 PIGU 128869 broad.mit.edu 37 20 33233114 33233114 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:33233114G>A ENST00000452740.2 - 3 219 c.220C>T c.(220-222)Cat>Tat p.H74Y PIGU_ENST00000374820.2_Intron Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 74 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 ATTAGGAAATGAAAGAGGTAT 0.279000 13 20 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66426264 66426264 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:66426264C>T ENST00000262139.5 - 9 837 c.838G>A c.(838-840)Gga>Aga p.G280R WIPI1_ENST00000546360.1_Missense_Mutation_p.G198R|WIPI1_ENST00000589459.1_5'UTR NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 280 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 AACATCTTTCCCATGTAGCCA 0.562000 17 38 0 0 1 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130670814 130670814 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:130670814G>A ENST00000335791.5 - 6 1041 c.766C>T c.(766-768)Cgg>Tgg p.R256W ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.R172W NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 256 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 TCATCTAGCCGGCCCTTCTCA 0.637000 34 50 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135926253 135926253 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:135926253C>T ENST00000264158.8 + 24 2891 c.2848C>T c.(2848-2850)Ccc>Tcc p.P950S RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P957S|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P906S|ZRANB3_ENST00000412849.1_Intron NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 950 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) GCGCCCTGCTCCCTACTCCAA 0.537000 29 75 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21852052 21852052 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:21852052C>A ENST00000216297.2 - 1 373 c.35G>T c.(34-36)cGg>cTg p.R12L SUPT16H_ENST00000555943.1_Missense_Mutation_p.R12L NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 12 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTTCACTCGCCGATAATAAGC 0.567000 36 9 4.01344e-20 4.12137e-20 1 1 0 KITLG 4254 broad.mit.edu 37 12 88939578 88939578 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:88939578C>T ENST00000347404.5 - 2 652 c.80G>A c.(79-81)gGg>gAg p.G27E KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.G27E NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 27 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 CCTGCAGATCCCTTCAGTTTT 0.378000 Testicular Cancer, Familial Clustering of 7 15 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94027899 94027899 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:94027899C>T ENST00000265140.5 + 20 3052 c.2633C>T c.(2632-2634)cCt>cTt p.P878L ANKRD32_ENST00000493934.1_3'UTR NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 878 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) GGGGTGACTCCTTTGCATGAT 0.448000 19 23 0 0 1 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20466008 20466008 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:20466008G>A ENST00000375102.3 + 1 190 c.88G>A c.(88-90)Ggg>Agg p.G30R NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 0 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CCCACGCTTCGGGGCCTCCTG 0.602000 4 4 0 0 1 0 0 PHYHIP 9796 broad.mit.edu 37 8 22078975 22078975 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:22078975G>A ENST00000454243.2 - 5 1458 c.884C>T c.(883-885)tCc>tTc p.S295F PHYHIP_ENST00000321613.3_Missense_Mutation_p.S295F NM_014759.3 NP_055574.3 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 295 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 10 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) GGTGCCCAGGGACAGGTCGAC 0.607000 102 132 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8418550 8418550 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:8418550G>A ENST00000337907.3 - 21 4679 c.4045C>T c.(4045-4047)Cgg>Tgg p.R1349W RERE_ENST00000476556.1_Missense_Mutation_p.R795W|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.R1081W|RERE_ENST00000400908.2_Missense_Mutation_p.R1349W NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1349 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GCGCTGTGCCGGGCAAAGTGC 0.692000 9 18 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6167790 6167790 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:6167790C>T ENST00000264870.3 - 13 2074 c.1809G>A c.(1807-1809)gcG>gcA p.A603A NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 603 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGTGCAGGGACGCTTGTTCCA 0.527000 13 43 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47836465 47836465 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:47836465C>T ENST00000359568.5 + 30 6740 c.6633C>T c.(6631-6633)ccC>ccT p.P2211P PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2211 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGGCTGGGCCCCGGAAGAGCC 0.617000 39 56 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74074526 74074526 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:74074526G>A ENST00000394070.2 + 5 891 c.388G>A c.(388-390)Gag>Aag p.E130K STAMBP_ENST00000339566.3_Missense_Mutation_p.E130K|STAMBP_ENST00000536064.1_Missense_Mutation_p.E130K|STAMBP_ENST00000409707.1_Missense_Mutation_p.E130K|STAMBP_ENST00000394073.1_Missense_Mutation_p.E130K NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 130 Glu-rich. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 GAAGGAAGCAGAGGAATTGGC 0.458000 31 13 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853322 143853322 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:143853322C>T ENST00000507359.2 + 3 2023 c.932C>T c.(931-933)tCc>tTc p.S311F KCTD16_ENST00000512467.1_Missense_Mutation_p.S311F NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 311 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) AATGACCTCTCCACATCTAGC 0.582000 54 9 0 0 1 0 0 TEAD3 7005 broad.mit.edu 37 6 35454395 35454395 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:35454395G>A ENST00000338863.7 - 2 272 c.45C>T c.(43-45)gcC>gcT p.A15A TEAD3_ENST00000402886.3_5'UTR NM_003214.3 NP_003205.2 Q99594 TEAD3_HUMAN TEA domain family member 3 15 female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 CATCCTCCCGGGCCTCCCCGG 0.701000 40 27 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100022401 100022401 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:100022401G>A ENST00000258428.3 - 17 3010 c.2782C>T c.(2782-2784)Ctg>Ttg p.L928L REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.L927L NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 928 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCTATACTCAGGTTAAGTCTC 0.403000 Direct reversal of damage 59 17 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887509 131887509 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:131887509C>T ENST00000359827.3 - 12 3444 c.2482G>A c.(2482-2484)Ggc>Agc p.G828S PLXNA4_ENST00000321063.4_Missense_Mutation_p.G828S Q9HCM2 PLXA4_HUMAN plexin A4 828 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGGCCTGGGCCCTGGCACCAG 0.637000 7 7 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144998534 144998534 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:144998534C>T ENST00000322810.4 - 31 6143 c.5974G>A c.(5974-5976)Gcg>Acg p.A1992T PLEC_ENST00000398774.2_Missense_Mutation_p.A1823T|PLEC_ENST00000354589.3_Missense_Mutation_p.A1855T|PLEC_ENST00000356346.3_Missense_Mutation_p.A1841T|PLEC_ENST00000527096.1_Missense_Mutation_p.A1878T|PLEC_ENST00000345136.3_Missense_Mutation_p.A1855T|PLEC_ENST00000354958.2_Missense_Mutation_p.A1833T|PLEC_ENST00000436759.2_Missense_Mutation_p.A1882T|PLEC_ENST00000357649.2_Missense_Mutation_p.A1859T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1992 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCCTTGAGCGCGATCTCCGCC 0.736000 3 28 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120150480 120150480 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:120150480C>T ENST00000392521.2 - 36 4655 c.4600G>A c.(4600-4602)Gaa>Aaa p.E1534K CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.E1492K NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1492 PH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) AGCTCAAATTCTTCCACCGGC 0.522000 33 37 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394104 64394104 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:64394104G>A ENST00000262043.3 + 4 821 c.481G>A c.(481-483)Gca>Aca p.A161T PHF3_ENST00000393387.1_Missense_Mutation_p.A161T|PHF3_ENST00000509330.1_Missense_Mutation_p.A161T Q92576 PHF3_HUMAN PHD finger protein 3 161 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CACAAAAAAAGCATCTGGGAA 0.393000 80 262 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115466111 115466111 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:115466111G>A ENST00000369522.3 + 21 2000 c.1760G>A c.(1759-1761)aGa>aAa p.R587K SYCP1_ENST00000369518.1_Missense_Mutation_p.R587K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 587 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAACAGAAAAGAGATGAAGTT 0.274000 4 5 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133627289 133627289 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:133627289G>A ENST00000519595.1 - 8 1067 c.969C>T c.(967-969)gtC>gtT p.V323V LRRC6_ENST00000250173.1_Silent_p.V323V|LRRC6_ENST00000518642.1_Silent_p.V323V Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 323 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTACCTATAGACAGCAAGGT 0.303000 25 39 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098175 13098175 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:13098175C>T ENST00000399002.2 + 8 1229 c.955C>T c.(955-957)Ctg>Ttg p.L319L SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 319 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) CATCGTGCATCTGCCCCAGAT 0.502000 55 151 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479926 142479926 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:142479926G>A ENST00000603901.1 + 0 58 NR_001296.3 CCCCTTTGATGATGATGACAA 0.547000 115 71 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 3 75 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128851509 128851509 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:128851509G>A ENST00000249373.3 + 11 2114 c.1834G>A c.(1834-1836)Gct>Act p.A612T RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 612 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGAGCCCTCAGCTGATGTCTC 0.577000 Mis skin basal cell 88 66 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612696 53612696 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:53612696G>A ENST00000455735.2 - 7 1066 c.746C>T c.(745-747)tCa>tTa p.S249L ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.S201L|ZNF415_ENST00000440291.1_Missense_Mutation_p.S188L|ZNF415_ENST00000243643.4_Missense_Mutation_p.S201L|ZNF415_ENST00000421033.1_Missense_Mutation_p.S213L|ZNF415_ENST00000448501.1_Missense_Mutation_p.S249L Q09FC8 ZN415_HUMAN zinc finger protein 415 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TGTGAGTAATGAAGAACAGAT 0.383000 30 41 0 0 1 0 0 SH3BP1 23616 broad.mit.edu 37 22 38051524 38051524 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:38051524C>T ENST00000357436.4 + 18 2252 c.1939C>T c.(1939-1941)Cca>Tca p.P647S Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron NM_018957.3 NP_061830.3 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 647 signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) CCCGGCCTCCCCAGGTCCAGC 0.706000 6 18 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026648 37026648 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:37026648G>A ENST00000358047.3 + 1 217 c.165G>A c.(163-165)atG>atA p.M55I NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 55 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 CGGAGGGCATGGACGACTTCC 0.557000 21 2 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987431 154987431 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:154987431C>A ENST00000368426.3 + 3 432 c.295C>A c.(295-297)Cta>Ata p.L99I ZBTB7B_ENST00000292176.2_Missense_Mutation_p.L99I|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.L133I|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.L99I NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 99 BTB. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCAGAGGCACTAGGCGCCCT 0.672000 18 16 2.4624e-09 2.50381e-09 1 1 0 EVC 2121 broad.mit.edu 37 4 5806560 5806560 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:5806560C>T ENST00000382674.2 + 17 2737 c.2553C>T c.(2551-2553)gtC>gtT p.V851V EVC_ENST00000264956.6_Silent_p.V851V P57679 EVC_HUMAN Ellis van Creveld syndrome 851 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) CCCAGGCGGTCCACCAGAGGT 0.582000 15 29 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38103100 38103100 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:38103100G>A ENST00000592533.1 + 5 1251 c.919G>A c.(919-921)Gtt>Att p.V307I ZNF540_ENST00000343599.5_Missense_Mutation_p.V307I|ZNF540_ENST00000316433.4_Missense_Mutation_p.V307I|ZNF540_ENST00000589117.1_Missense_Mutation_p.V275I NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTGGAAAAGTTTTTCAACT 0.303000 8 17 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021131 5021131 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:5021131C>T ENST00000321543.1 + 1 919 c.919C>T c.(919-921)Cac>Tac p.H307Y NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGAATTCTCCACAAGTTTGT 0.403000 22 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179412796 179412796 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:179412796A>G ENST00000589042.1 - 339 93781 c.93557T>C c.(93556-93558)gTg>gCg p.V31186A TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28618A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22246A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22121A|TTN_ENST00000342175.6_Missense_Mutation_p.V22313A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V29545A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29545 Fibronectin type-III 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTGGCCTTCACACGGAATTC 0.463000 6 40 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6678293 6678293 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:6678293C>T ENST00000245907.6 - 40 4812 c.4720G>A c.(4720-4722)Gat>Aat p.D1574N C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1574 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGCACCTCATCCGAGCCTGGA 0.597000 25 36 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48429244 48429244 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:48429244G>A ENST00000224605.2 - 2 907 c.642C>T c.(640-642)cgC>cgT p.R214R NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 214 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGCCATCCCGGCGGGCCGCCT 0.721000 17 13 0 0 1 0 0 RP11-464F9.1 0 broad.mit.edu 37 10 75482224 75482224 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:75482224C>T ENST00000399449.3 - 0 618 BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA TTGAAGAAGTCGAGGTGGGTG 0.383000 15 14 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66021535 66021535 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:66021535C>T ENST00000443035.3 - 11 1577 c.1362G>A c.(1360-1362)ctG>ctA p.L454L DENND4A_ENST00000431932.2_Silent_p.L454L NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 454 DENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 CTGCTAAAGCCAGTGGGCAGA 0.423000 7 1 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17699085 17699085 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:17699085C>T ENST00000399080.2 - 1 621 c.598G>A c.(598-600)Gaa>Aaa p.E200K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 200 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GATTTAGTTTCCTTGTAAAAG 0.299000 4 46 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26460004 26460004 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:26460004C>T ENST00000429381.1 + 3 590 c.378C>T c.(376-378)taC>taT p.Y126Y BTN2A1_ENST00000469185.1_Silent_p.Y126Y|BTN2A1_ENST00000541522.1_Silent_p.Y65Y|BTN2A1_ENST00000312541.5_Silent_p.Y126Y Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 126 Ig-like V-type. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 ACCGCTGTTACTTCCAAGAAG 0.537000 26 39 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100356181 100356181 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:100356181G>A ENST00000542585.1 + 0 3627 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTGGTCTACGGAGACCCTCAT 0.602000 7 5 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13916456 13916456 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:13916456C>T ENST00000285018.4 - 2 590 c.286G>A c.(286-288)Gag>Aag p.E96K WNT7A_ENST00000497808.1_5'UTR NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 96 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 ACTTTGAGCTCCTTCCCGAAG 0.587000 24 2 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189713187 189713187 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:189713187G>A ENST00000319332.5 - 2 722 c.525C>T c.(523-525)ttC>ttT p.F175F LEPREL1_ENST00000427335.2_5'UTR NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 175 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GGTTAGCCACGAAAAATGTGT 0.433000 29 42 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42794644 42794644 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:42794644C>T ENST00000572681.2 + 11 4519 c.4451C>T c.(4450-4452)cCc>cTc p.P1484L CIC_ENST00000575354.2_Missense_Mutation_p.P575L|CIC_ENST00000160740.3_Missense_Mutation_p.P575L Q96RK0 CIC_HUMAN capicua transcriptional repressor 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGGCCCCCACCCCCTGGGGCT 0.672000 """Mis, F, S""" oligodendroglioma 23 33 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059493 9059493 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9059493G>A ENST00000397910.4 - 3 28156 c.27953C>T c.(27952-27954)aCt>aTt p.T9318I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9320 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAGACCTCAGTAGTAGCACC 0.512000 31 46 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507613 155507613 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:155507613G>A ENST00000302053.3 - 5 1046 c.968C>T c.(967-969)cCt>cTt p.P323L FGA_ENST00000403106.3_Missense_Mutation_p.P323L NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 323 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGAGCTCCCAGGTTTCCAGGT 0.567000 19 41 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158257886 158257886 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:158257886G>A ENST00000296526.7 + 11 2156 c.1831G>A c.(1831-1833)Gat>Aat p.D611N GRIA2_ENST00000507898.1_Missense_Mutation_p.D564N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D611N|GRIA2_ENST00000393815.2_Missense_Mutation_p.D564N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D564N NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 611 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GCAAGGATGCGATATTTCGCC 0.398000 16 72 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64973537 64973537 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:64973537G>A ENST00000399262.2 - 8 2608 c.2390C>T c.(2389-2391)cCc>cTc p.P797L JMJD1C_ENST00000402544.1_Missense_Mutation_p.P578L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P578L|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P615L NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 797 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TAACACAGTGGGAAGTAAATG 0.507000 13 17 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30883522 30883522 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:30883522G>A ENST00000321897.5 + 4 1016 c.e4-1 VARS2_ENST00000416670.2_Splice_Site|VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 TCTTCCTCTAGGCCCGGCTGC 0.527000 65 69 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45316363 45316363 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:45316363C>T ENST00000313237.5 - 3 278 c.128G>A c.(127-129)gGa>gAa p.G43E PHF21B_ENST00000396103.3_Missense_Mutation_p.G43E|PHF21B_ENST00000447824.3_Missense_Mutation_p.G31E|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.G31E NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 43 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) AGTGATCGTTCCCAAAGCCTG 0.627000 12 36 0 0 1 0 0 CTSD 1509 broad.mit.edu 37 11 1775286 1775286 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:1775286G>A ENST00000236671.2 - 7 1042 c.910C>T c.(910-912)Ccg>Tcg p.P304S RP11-295K3.1_ENST00000427721.1_Silent_p.A174A NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 304 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(8) 13 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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCATCCACCGGGCCCACCATG 0.711000 14 13 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1079275 1079275 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:1079275G>A ENST00000308624.5 + 2 273 c.144G>A c.(142-144)acG>acA p.T48T SNTG2_ENST00000407292.1_Silent_p.T48T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 48 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TGAAGCTGACGAAAGAGGTGC 0.468000 46 9 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39033567 39033567 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:39033567G>A ENST00000373256.4 + 4 407 c.364G>A c.(364-366)Gac>Aac p.D122N NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 122 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) GCCCTGGAGGGACTTGTCGGA 0.642000 11 17 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421469 134421469 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:134421469G>A ENST00000370766.3 - 7 3842 c.1133C>T c.(1132-1134)tCt>tTt p.S378F ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.S283F NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 378 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AATAAGATCAGAGCTAACTCT 0.408000 19 2 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169021206 169021206 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:169021206C>T ENST00000265295.4 + 5 868 c.589C>T c.(589-591)Ctt>Ttt p.L197F SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GCTAGAACTTCTTATTACTAA 0.383000 11 23 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151785505 151785505 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:151785505A>T ENST00000356728.6 - 8 1294 c.1140T>A c.(1138-1140)ttT>ttA p.F380L RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.F455L|RORC_ENST00000318247.6_Missense_Mutation_p.F401L NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 401 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGGAGAAGTCAAAGATGGAGC 0.537000 35 50 0 0 1 0 0 NBN 4683 broad.mit.edu 37 8 90958432 90958432 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:90958432G>A ENST00000265433.3 - 13 2160 c.2006C>T c.(2005-2007)tCc>tTc p.S669F NBN_ENST00000409330.1_Missense_Mutation_p.S587F NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 669 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) TGGATTTCTGGAAGTAGAGTT 0.328000 Homologous recombination 21 37 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32367002 32367002 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:32367002C>T ENST00000298386.2 + 16 1634 c.1563C>T c.(1561-1563)ttC>ttT p.F521F RXFP2_ENST00000380314.1_Silent_p.F497F NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 521 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGGAGAAGTTCCTGGTCATTG 0.507000 16 21 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 69281676 69281676 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:69281676G>A ENST00000433211.1 - 5 677 c.503C>T c.(502-504)tCt>tTt p.S168F CTNNA3_ENST00000373744.4_Missense_Mutation_p.S168F|CTNNA3_ENST00000545309.1_Missense_Mutation_p.S168F NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 168 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CTGGAGGTCAGATTTGTTGGC 0.393000 21 32 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62788589 62788589 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:62788589G>A ENST00000582986.1 - 0 2020 NR_024386.1 ACAGAGACGCGTTCACCATCT 0.627000 36 102 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999214 27999214 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:27999214C>T ENST00000441525.1 - 1 352 c.238G>A c.(238-240)Gaa>Aaa p.E80K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 80 Glu-rich. p.E80K(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CTTTCAAGTTCGACGTCTTCA 0.488000 67 8 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47305233 47305233 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:47305233C>T ENST00000396220.1 - 10 1318 c.1296G>A c.(1294-1296)cgG>cgA p.R432R PREX1_ENST00000371941.3_Silent_p.R432R Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 432 DEP 1. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TCAGCTTTCTCCGGCGGTCCT 0.562000 20 77 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72469847 72469847 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:72469847G>A ENST00000360141.3 + 2 501 c.213G>A c.(211-213)agG>agA p.R71R CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 71 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CAGGAAAAAGGAACGGCCGAG 0.522000 25 47 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179561797 179561797 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:179561797G>A ENST00000444136.1 + 2 297 c.47G>A c.(46-48)aGg>aAg p.R16K TDRD5_ENST00000294848.8_Missense_Mutation_p.R16K|TDRD5_ENST00000367614.1_Missense_Mutation_p.R16K NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 16 Lotus/OST-HTH 1. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AAGGAAATAAGGTCACTTCTC 0.493000 53 162 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107080872 107080872 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:107080872G>A ENST00000392842.1 + 6 1002 c.588G>A c.(586-588)gaG>gaA p.E196E RFX4_ENST00000357881.4_Silent_p.E205E|RFX4_ENST00000229387.5_Silent_p.E102E|RP11-144F15.1_ENST00000551505.1_Intron NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 196 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 TGCCTGAGGAGAAGGTAACTA 0.483000 42 47 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19318163 19318163 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:19318163G>A ENST00000461366.1 + 10 1304 c.1089G>A c.(1087-1089)ggG>ggA p.G363G NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 363 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CTGCCCCAGGGAGGCGGCGGA 0.637000 26 4 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138643952 138643952 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:138643952C>T ENST00000218099.2 + 8 1115 c.1108C>T c.(1108-1110)Cag>Tag p.Q370* F9_ENST00000394090.2_Nonsense_Mutation_p.Q332* NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 370 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TTTAGTTCTTCAGTACCTTAG 0.448000 33 5 0 0 1 0 0 RNF183 138065 broad.mit.edu 37 9 116060265 116060265 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:116060265G>A ENST00000478815.1 - 1 1780 c.200C>T c.(199-201)tCa>tTa p.S67L RNF183_ENST00000441031.3_Missense_Mutation_p.S67L|RNF183_ENST00000416588.2_Missense_Mutation_p.S67L|RNF183_ENST00000297894.5_Missense_Mutation_p.S67L Q96D59 RN183_HUMAN ring finger protein 183 67 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 AGGCTGCCCTGAGGCCAGCAC 0.662000 26 24 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734245 12734245 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:12734245A>T ENST00000380682.1 + 15 2173 c.1667A>T c.(1666-1668)cAa>cTa p.Q556L NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 556 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGTATACCCCAAATGACCACC 0.453000 84 13 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38150212 38150212 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:38150212C>T ENST00000378505.2 - 13 1748 c.1572_splice c.e13+1 p.K524_splice RPGR_ENST00000309513.3_Splice_Site_p.K462_splice|RPGR_ENST00000339363.3_Splice_Site_p.K524_splice|RPGR_ENST00000318842.7_Splice_Site_p.K524_splice|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Splice_Site_p.K524_splice|RPGR_ENST00000338898.3_3'UTR NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 524 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 CATATTATACCTTTTGTTTCT 0.269000 11 5 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70071286 70071286 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:70071286C>T ENST00000446444.1 - 4 1011 c.e4-1 RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCCACAGAACCTGTTACAGTA 0.398000 5 19 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62547972 62547972 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:62547972G>A ENST00000430451.2 + 4 1611 c.1414G>A c.(1414-1416)Gag>Aag p.E472K NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 472 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TCTGGTTCTGGAGCCAAGAAG 0.473000 12 1 0 0 1 0 0 F2RL3 9002 broad.mit.edu 37 19 17000832 17000832 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:17000832C>T ENST00000248076.3 + 2 888 c.558C>T c.(556-558)gcC>gcT p.A186A F2RL3_ENST00000599210.1_3'UTR NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 186 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGGCCCGCGCCCTGCGTGGCC 0.711000 10 6 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89247063 89247063 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:89247063G>A ENST00000496168.1 - 0 287 GTCTCCTACAGATGCAGACAG 0.468000 8 135 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144288563 144288563 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:144288563G>A ENST00000549981.1 - 9 826 c.103C>T c.(103-105)Cca>Tca p.P35S TPK1_ENST00000538212.2_Intron|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.P152S|TPK1_ENST00000547966.1_5'UTR Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 152 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ATTATAATTGGAAAAGGAGTG 0.448000 57 57 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94027898 94027898 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:94027898C>G ENST00000265140.5 + 20 3051 c.2632C>G c.(2632-2634)Cct>Gct p.P878A ANKRD32_ENST00000493934.1_3'UTR NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 878 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) CGGGGTGACTCCTTTGCATGA 0.448000 19 24 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554378 140554378 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140554378C>T ENST00000231137.3 + 1 2136 c.1962C>T c.(1960-1962)gcC>gcT p.A654A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 654 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCGCTCGGCCACCGCCACGC 0.706000 51 7 0 0 1 0 0 WASF1 8936 broad.mit.edu 37 6 110424719 110424719 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:110424719A>T ENST00000392589.1 - 9 1591 c.755T>A c.(754-756)cTt>cAt p.L252H WASF1_ENST00000392586.1_Missense_Mutation_p.L252H|WASF1_ENST00000359451.2_Missense_Mutation_p.L252H|WASF1_ENST00000392588.1_Missense_Mutation_p.L252H|WASF1_ENST00000392587.2_Missense_Mutation_p.L252H NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 252 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) CAAGGCAGAAAGTGAGTAAGA 0.413000 41 7 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702693 27702693 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:27702693C>T ENST00000438700.3 - 1 604 c.487G>A c.(487-489)Gaa>Aaa p.E163K NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 163 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TCTTCCTCTTCGTCCTTGGGT 0.662000 25 77 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61386057 61386057 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:61386057C>T ENST00000370501.3 + 2 1106 c.735C>T c.(733-735)ttC>ttT p.F245F NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 245 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TCATGTCCTTCATATTCCCCA 0.607000 44 240 0 0 1 0 0 ART1 417 broad.mit.edu 37 11 3681336 3681336 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:3681336G>A ENST00000250693.1 + 3 688 c.587G>A c.(586-588)aGg>aAg p.R196K NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 196 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GCCACCGTGAGGCTGGGGGGC 0.682000 5 7 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41203370 41203370 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:41203370G>A ENST00000399959.2 + 9 1708 c.853G>A c.(853-855)Gaa>Aaa p.E285K DDX3X_ENST00000542215.1_Missense_Mutation_p.G300E|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.E269K|DDX3X_ENST00000441189.2_Intron NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 285 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GATCTACGAGGAAGCCAGAAA 0.363000 HNSCC(61;0.18) 11 0 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 145 97 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36776168 36776168 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:36776168C>T ENST00000379881.3 - 2 199 c.111G>A c.(109-111)caG>caA p.Q37Q SOHLH2_ENST00000317764.6_Silent_p.Q37Q|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.Q114Q|SOHLH2_ENST00000554962.1_Silent_p.Q114Q NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CAAATAGTTTCTGTACAGTAT 0.428000 23 72 0 0 1 0 0 PHB2 11331 broad.mit.edu 37 12 7079364 7079364 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7079364G>A ENST00000535923.1 - 2 488 c.207C>T c.(205-207)caC>caT p.H69H PHB2_ENST00000399433.2_Silent_p.H69H|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Silent_p.H69H|PHB2_ENST00000546111.1_Silent_p.H69H|PHB2_ENST00000440277.1_Silent_p.H69H NM_001144831.1 NP_001138303.1 Q99623 PHB2_HUMAN prohibitin 2 69 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 ATTACCTGAAGTGAAGGCCCT 0.597000 12 161 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75086477 75086477 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:75086477T>A ENST00000326665.5 - 8 1159 c.941A>T c.(940-942)tAt>tTt p.Y314F C1orf173_ENST00000420661.2_Missense_Mutation_p.Y117F|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 314 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTGCTGCTGATAAACTTTAAT 0.363000 31 33 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91091009 91091009 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:91091009G>A ENST00000373094.1 + 1 1351 c.506G>A c.(505-507)gGa>gAa p.G169E PCDH11X_ENST00000406881.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G169E|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G169E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G169E|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G169E|PCDH11X_ENST00000504220.1_Missense_Mutation_p.G169E NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 169 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCTGACGTAGGAATAAACGGA 0.343000 25 2 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227953470 227953470 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:227953470G>A ENST00000396625.3 - 22 1729 c.1522C>T c.(1522-1524)Cct>Tct p.P508S COL4A4_ENST00000329662.7_Missense_Mutation_p.P508S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 508 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGCCTCCCAGGAAGTCCTGGA 0.587000 31 11 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704557 29704557 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:29704557C>T ENST00000471961.1 + 1 1510 c.462C>T c.(460-462)gcC>gcT p.A154A GAS2L1_ENST00000407854.1_Silent_p.A154A|GAS2L1_ENST00000407647.2_Silent_p.A154A|GAS2L1_ENST00000403764.1_Silent_p.A154A|GAS2L1_ENST00000341313.6_Silent_p.A154A|GAS2L1_ENST00000360113.2_Silent_p.A154A|GAS2L1_ENST00000406549.3_Silent_p.A154A Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 154 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 GCCTGCTGGCCCCACGCCTCG 0.677000 8 15 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101817609 101817609 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:101817609C>T ENST00000375001.3 + 34 3570 c.3147C>T c.(3145-3147)ttC>ttT p.F1049F NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1049 Nonhelical region 8 (NC8). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) ATGGCAGCTTCCTTATGTCTG 0.507000 26 38 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 239003128 239003128 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:239003128C>T ENST00000254663.6 + 10 1239 c.1097C>T c.(1096-1098)aCc>aTc p.T366I SCLY_ENST00000422984.2_Missense_Mutation_p.T264I|SCLY_ENST00000555827.1_Missense_Mutation_p.T358I|SCLY_ENST00000429612.2_Missense_Mutation_p.T152I NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 358 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CTTCCCAATACCTGTAACTTT 0.522000 11 95 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24188792 24188792 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:24188792G>A ENST00000265769.4 + 12 1343 c.1233G>A c.(1231-1233)ggG>ggA p.G411G ADAM28_ENST00000437154.2_Silent_p.G411G|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.G178G|ADAM28_ENST00000397649.3_Silent_p.G158G|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 411 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAATTTGTGGGAACCAGTTGG 0.408000 20 29 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444341 5444341 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:5444341G>A ENST00000300778.4 + 1 1001 c.911G>A c.(910-912)gGa>gAa p.G304E AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCCAATGGGGAATGTTAAAT 0.418000 16 5 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217297462 217297462 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:217297462C>T ENST00000357276.4 + 8 1686 c.1356C>T c.(1354-1356)ggC>ggT p.G452G SMARCAL1_ENST00000358207.5_Silent_p.G452G|SMARCAL1_ENST00000479008.1_3'UTR NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 452 Helicase ATP-binding. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCAAAGGAGGCCGCCTGCTGC 0.602000 Schimke Immuno-Osseous Dysplasia 41 21 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107703396 107703396 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:107703396G>A ENST00000388781.3 - 23 3188 c.3105C>T c.(3103-3105)ccC>ccT p.P1035P LAMB4_ENST00000388780.3_Silent_p.P1035P|LAMB4_ENST00000205386.4_Silent_p.P1035P NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1035 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CCCCACCAGGGGGACACTCCA 0.532000 21 40 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3703748 3703748 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:3703748C>T ENST00000378251.1 - 2 769 c.742G>A c.(742-744)Ggc>Agc p.G248S NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 248 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GTCTGGCAGCCGCTGACCATC 0.637000 3 79 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124333348 124333348 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:124333348C>T ENST00000409039.3 + 33 5692 c.5667C>T c.(5665-5667)atC>atT p.I1889I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1889 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTAATCGAATCGATGCTTCTG 0.532000 7 12 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79517678 79517678 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:79517678G>A ENST00000537152.1 - 3 914 c.389C>T c.(388-390)cCc>cTc p.P130L C17orf70_ENST00000327787.8_Missense_Mutation_p.P281L NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 281 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GAAGATGACGGGCTCCTCCAG 0.587000 44 3 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8698409 8698409 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:8698409G>T ENST00000378641.3 + 14 1902 c.1427G>T c.(1426-1428)gGa>gTa p.G476V PLCB1_ENST00000338037.6_Missense_Mutation_p.G476V|PLCB1_ENST00000378637.2_Missense_Mutation_p.G476V|PLCB1_ENST00000494924.1_3'UTR NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 476 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TCATCAGAAGGAAGCGGCAAA 0.463000 9 51 7.48243e-07 7.57642e-07 1 1 0 SYNPR 132204 broad.mit.edu 37 3 63601104 63601104 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:63601104G>A ENST00000478300.1 + 6 1216 c.805G>A c.(805-807)Gat>Aat p.D269N SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000295894.5_Missense_Mutation_p.D249N|SYNPR_ENST00000465156.1_Missense_Mutation_p.D185N|SYNPR_ENST00000460711.1_Missense_Mutation_p.D260N NM_001130003.1 NP_001123475.1 Q8TBG9 SYNPR_HUMAN synaptoporin 249 cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) GCCAACCTCAGATGAGTTTGG 0.493000 15 3 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62023728 62023728 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:62023728G>A ENST00000280772.1 - 6 755 c.564C>T c.(562-564)gtC>gtT p.V188V ANK3_ENST00000373827.2_Silent_p.V182V|ANK3_ENST00000503366.1_Silent_p.V171V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 188 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGAGCGAAACGACTTGGTCGT 0.507000 9 21 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 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 TCTCCGCCCACAGCCTCCCAA 0.647000 4 44 0 0 1 0 0 SGMS1 259230 broad.mit.edu 37 10 52067877 52067877 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:52067877C>T ENST00000361781.2 - 10 1886 c.927G>A c.(925-927)tgG>tgA p.W309* SGMS1_ENST00000429490.1_Nonsense_Mutation_p.W140* NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 315 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 GCCAGCAAATCCAGTGATACC 0.483000 17 28 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654498 31654498 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:31654498C>T ENST00000340345.4 - 1 778 c.753G>A c.(751-753)ctG>ctA p.L251L NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 251 6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK]. keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AATAGCATTTCAGAGGTCTGC 0.428000 8 77 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42116019 42116019 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:42116019C>T ENST00000457542.2 + 29 4259 c.3973C>T c.(3973-3975)Ccg>Tcg p.P1325S MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1164S|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1331S|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1208S NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1331 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCCTGGCTTCCCGGTGGGCCT 0.617000 59 6 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581441 33581441 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:33581441G>A ENST00000321505.4 + 6 3291 c.3111G>A c.(3109-3111)ccG>ccA p.P1037P KIAA1549L_ENST00000265654.5_Silent_p.P1043P|KIAA1549L_ENST00000389726.3_Silent_p.P1043P KIAA1549-like CCTATCCGCCGCTAACCATTG 0.567000 4 217 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414000 48414000 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:48414000C>G ENST00000249598.1 - 2 1027 c.868G>C c.(868-870)Gac>Cac p.D290H NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 290 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTGGAGCCGTCCTTGGACAGC 0.612000 13 26 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459677 92459677 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:92459677C>T ENST00000318445.6 + 2 849 c.635C>T c.(634-636)tCg>tTg p.S212L SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S212L NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 212 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) AAGGACTCCTCGCTCTATATA 0.587000 10 3 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38024238 38024238 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:38024238C>T ENST00000445217.1 + 3 206 c.171C>T c.(169-171)atC>atT p.I57I ZNF793_ENST00000587143.1_Silent_p.I57I|ZNF793_ENST00000542455.1_Silent_p.I57I|ZNF793_ENST00000589319.1_Silent_p.I57I|ZNF793_ENST00000588578.1_Silent_p.I57I|ZNF793_ENST00000587986.1_Silent_p.I57I Q6ZN11 ZN793_HUMAN zinc finger protein 793 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGATGTGATCCTCAGACTGG 0.527000 54 54 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137756403 137756403 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:137756403T>G ENST00000314358.5 + 15 3924 c.3724T>G c.(3724-3726)Tcc>Gcc p.S1242A KDM3B_ENST00000542866.1_Missense_Mutation_p.S274A|KDM3B_ENST00000394866.1_Missense_Mutation_p.S898A|KDM3B_ENST00000508386.1_3'UTR NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1242 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AGAAGCAGGGTCCCTGAGGTC 0.458000 53 10 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154667733 154667733 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:154667733C>T ENST00000404039.1 + 20 2396 c.1809C>T c.(1807-1809)ttC>ttT p.F603F DPP6_ENST00000332007.3_Silent_p.F605F|DPP6_ENST00000427557.1_Silent_p.F560F|DPP6_ENST00000377770.3_Silent_p.F667F NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 667 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GCAGCGGCTTCCAAGGGACCA 0.657000 12 7 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832760 130832760 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:130832760C>T ENST00000357462.5 - 15 2378 c.2285G>A c.(2284-2286)aGa>aAa p.R762K POTEF_ENST00000409914.2_Missense_Mutation_p.R762K A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 762 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CAGGATGCCTCTTTTGCTCTG 0.577000 99 26 0 0 1 0 0 SNORD113-9 767569 broad.mit.edu 37 14 101412008 101412008 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:101412008G>A ENST00000365080.1 + 0 23 NR_003237.1 GAGTACCCTGGGGTGTCTGAA 0.338000 33 9 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102641101 102641101 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:102641101G>A ENST00000332549.3 + 7 1087 c.858G>A c.(856-858)ccG>ccA p.P286P IL1R2_ENST00000393414.2_Silent_p.P286P|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000441002.1_Silent_p.P286P NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 286 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GCGCCTACCCGGGAGGCCGCG 0.572000 3 40 0 0 1 0 0 MAB21L3 126868 broad.mit.edu 37 1 116675774 116675774 + Missense_Mutation SNP G G A rs150571972 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:116675774G>A ENST00000369500.3 + 7 1142 c.877G>A c.(877-879)Gag>Aag p.E293K NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 293 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 TTGGACCTGCGAGAAATATCC 0.478000 11 25 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716816 153716816 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:153716816G>A ENST00000263512.4 - 2 962 c.464C>T c.(463-465)gCc>gTc p.A155V SLC10A3_ENST00000393586.1_Missense_Mutation_p.A210V|SLC10A3_ENST00000369649.4_Missense_Mutation_p.A126V|SLC10A3_ENST00000393587.4_Missense_Mutation_p.A155V NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 155 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 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) TGTGGGCGGGGCCTCATGGGC 0.647000 49 13 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134648171 134648171 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:134648171G>A ENST00000368586.5 - 48 6953 c.6853C>T c.(6853-6855)Ctc>Ttc p.L2285F TTC40_ENST00000263170.5_Missense_Mutation_p.L446F NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 446 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GCCTTGGAGAGGCTGAGCAGG 0.642000 13 13 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751628 19751628 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:19751628G>A ENST00000400113.3 - 4 599 c.495C>T c.(493-495)tcC>tcT p.S165S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 165 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATTCTAGCTTGGACTTCTTGC 0.577000 45 126 0 0 1 0 0 ALDH3A1 218 broad.mit.edu 37 17 19648365 19648365 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:19648365C>T ENST00000457500.2 - 1 407 c.78G>A c.(76-78)cgG>cgA p.R26R ALDH3A1_ENST00000225740.6_Silent_p.R26R|ALDH3A1_ENST00000395555.3_Silent_p.R26R|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000444455.1_Silent_p.R26R|ALDH3A1_ENST00000485231.1_Intron NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 26 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) GCTGCTGGATCCGGAACTGCA 0.706000 9 1 0 0 1 0 0 PLA2G16 11145 broad.mit.edu 37 11 63357818 63357818 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:63357818T>C ENST00000323646.5 - 3 495 c.141A>G c.(139-141)gcA>gcG p.A47A PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Silent_p.A47A NM_007069.3 NP_009000.2 P53816 PAG16_HUMAN phospholipase A2, group XVI 47 lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 TGACACTGGCTGCACCAGCTC 0.582000 12 29 0 0 1 0 0 TMEM110 375346 broad.mit.edu 37 3 52883814 52883814 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:52883814C>T ENST00000355083.5 - 4 566 c.421G>A c.(421-423)Gaa>Aaa p.E141K TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E141K NM_198563.2 NP_940965.1 transmembrane protein 110 kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) TTACCATATTCGCCGAAGCGC 0.627000 39 9 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526400 84526400 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:84526400C>T ENST00000360700.4 + 10 2876 c.1990C>T c.(1990-1992)Cct>Tct p.P664S ZNF711_ENST00000395402.1_Missense_Mutation_p.P626S|ZNF711_ENST00000373165.3_Missense_Mutation_p.P618S|ZNF711_ENST00000276123.3_Missense_Mutation_p.P618S|ZNF711_ENST00000542798.1_Missense_Mutation_p.P460S Q9Y462 ZN711_HUMAN zinc finger protein 711 618 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TAAGGATTTTCCTCACAAATG 0.423000 4 1 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 93091480 93091480 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:93091480G>A ENST00000370331.1 - 13 1500 c.1491C>T c.(1489-1491)tcC>tcT p.S497S EVI5_ENST00000543509.1_Silent_p.S508S|EVI5_ENST00000540033.1_Silent_p.S497S|EVI5_ENST00000491940.1_5'UTR NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 497 Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) CATCAGGAAGGGAGTTATTCC 0.343000 8 20 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228279 140228279 + Missense_Mutation SNP G G A rs71588635 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140228279G>A ENST00000378122.3 + 1 923 c.199G>A c.(199-201)Gat>Aat p.D67N PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D67N|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCCAGTTGGATTCCAAAGG 0.642000 145 23 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97361546 97361546 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:97361546G>A ENST00000457909.1 + 0 3465 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TGGGCCTTCGGCCAGCAGACC 0.607000 8 15 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66461119 66461119 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:66461119C>G ENST00000404260.3 + 29 6429 c.6121C>G c.(6121-6123)Ccg>Gcg p.P2041A MAST4_ENST00000403666.1_Missense_Mutation_p.P1849A|MAST4_ENST00000405643.1_Missense_Mutation_p.P1859A|MAST4_ENST00000261569.7_Missense_Mutation_p.P1844A|MAST4_ENST00000403625.2_Missense_Mutation_p.P2038A O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2041 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) AGCATGGGCGCCGGGTGGGAA 0.557000 9 11 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201779106 201779106 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:201779106C>T ENST00000367296.4 + 23 4854 c.4434C>T c.(4432-4434)acC>acT p.T1478T NAV1_ENST00000295624.6_Silent_p.T1475T|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Silent_p.T1431T|NAV1_ENST00000367300.3_Silent_p.T1418T|NAV1_ENST00000367295.1_Silent_p.T1084T|NAV1_ENST00000367297.4_Silent_p.T1470T NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1478 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CAGCCTCTACCCTGGGACTAA 0.488000 26 78 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173756 126173756 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:126173756C>T ENST00000339582.2 - 9 2488 c.1680G>A c.(1678-1680)caG>caA p.Q560Q GRM8_ENST00000444921.2_Silent_p.Q560Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.Q560Q O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 560 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGTTGGGTCTCTGATCCAGAG 0.527000 HNSCC(24;0.065) 32 107 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21846589 21846589 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:21846589C>T ENST00000434536.1 + 16 1992 c.1890C>T c.(1888-1890)tcC>tcT p.S630S XPO7_ENST00000252512.9_Silent_p.S621S|XPO7_ENST00000433566.4_Silent_p.S622S Q9UIA9 XPO7_HUMAN exportin 7 621 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) ATGACCTGTCCATTGGATATC 0.438000 11 20 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28547322 28547322 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:28547322C>T ENST00000357727.2 + 4 648 c.258C>T c.(256-258)ttC>ttT p.F86F CREB5_ENST00000409603.1_Silent_p.F53F|CREB5_ENST00000396299.2_Silent_p.F53F|CREB5_ENST00000396300.2_Silent_p.F79F NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 86 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AGCACGAGTTCAGGAAGGCTC 0.562000 79 68 0 0 1 0 0 ADAM8 101 broad.mit.edu 37 10 135087705 135087705 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:135087705C>T ENST00000485491.2 - 2 131 c.81G>A c.(79-81)tgG>tgA p.W27* ADAM8_ENST00000559180.1_5'UTR|ADAM8_ENST00000415217.3_Missense_Mutation_p.G62E|ADAM8_ENST00000445355.3_Missense_Mutation_p.G62E NM_001164490.1 NP_001157962.1 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 27 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CCCTGTGGCCCCAAGGACGTA 0.687000 19 30 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7244122 7244122 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7244122C>T ENST00000542285.1 - 2 303 c.154G>A c.(154-156)Gga>Aga p.G52R P00736 C1R_HUMAN complement component 1, r subcomponent 53 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACCCTGTATCCCGTGGGGACT 0.537000 5 8 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68950458 68950458 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:68950458C>T ENST00000288368.4 + 7 1047 c.770C>T c.(769-771)tCt>tTt p.S257F PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 257 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAAATTTCTTCTGGAAATATT 0.388000 7 19 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52524474 52524474 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:52524474C>T ENST00000242839.4 - 10 2665 c.2509G>A c.(2509-2511)Gga>Aga p.G837R ATP7B_ENST00000448424.2_Missense_Mutation_p.G759R|ATP7B_ENST00000418097.2_Missense_Mutation_p.G837R|ATP7B_ENST00000400366.3_Missense_Mutation_p.G726R|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.G109R|ATP7B_ENST00000344297.5_Missense_Mutation_p.G675R NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 837 G -> A (in Ref. 8; AAA16173). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GGAAACTTTCCCCCAGGGACC 0.547000 Wilson disease 13 60 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50045894 50045894 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:50045894G>A ENST00000335154.5 - 14 1658 c.1425C>T c.(1423-1425)gtC>gtT p.V475V FMNL3_ENST00000293590.5_Silent_p.V475V|FMNL3_ENST00000550488.1_Silent_p.V475V|FMNL3_ENST00000352151.5_Silent_p.V424V NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 475 actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 CCAGGCCCCGGACATTTGGCT 0.592000 5 6 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154315361 154315361 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:154315361C>T ENST00000368489.3 + 15 1476 c.1476C>T c.(1474-1476)atC>atT p.I492I NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 478 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGTCAAGATCGGGGACCCCC 0.542000 25 23 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89811436 89811436 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:89811436C>T ENST00000389301.3 - 36 3587 c.3557G>A c.(3556-3558)aGg>aAg p.R1186K FANCA_ENST00000568369.1_Missense_Mutation_p.R1186K NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1186 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GCAGTGTCTCCTCCACCGGCA 0.637000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 21 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1251274 1251274 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:1251274G>A ENST00000447027.1 + 11 1327 c.1269G>A c.(1267-1269)ccG>ccA p.P423P MUC5B_ENST00000529681.1_Silent_p.P420P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 420 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGGACCTGCCGTGCCCTGGCA 0.657000 21 23 0 0 1 0 0 HLTF 6596 broad.mit.edu 37 3 148792061 148792061 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:148792061C>T ENST00000310053.5 - 4 663 c.470G>A c.(469-471)aGa>aAa p.R157K HLTF_ENST00000392912.2_Missense_Mutation_p.R157K|HLTF_ENST00000494055.1_Missense_Mutation_p.R157K|HLTF_ENST00000465259.1_Missense_Mutation_p.R157K NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 157 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AACCGCTTTTCTATTTTCTTC 0.338000 21 23 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15052767 15052767 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:15052767C>T ENST00000248072.3 + 1 467 c.467C>T c.(466-468)tCc>tTc p.S156F NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) GTCATGGGTTCCTTGCTTGAG 0.522000 75 110 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62364624 62364624 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:62364624C>T ENST00000328969.5 + 3 765 c.638C>T c.(637-639)cCa>cTa p.P213L ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.P213L|ZGPAT_ENST00000355969.6_Missense_Mutation_p.P213L|ZGPAT_ENST00000448100.1_Missense_Mutation_p.P213L|ZGPAT_ENST00000357119.4_Missense_Mutation_p.P213L NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 213 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TTCCAGGACCCAGACCTGAGC 0.677000 30 35 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691349 153691349 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:153691349G>A ENST00000304337.2 - 2 1628 c.808C>T c.(808-810)Cga>Tga p.R270* NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 270 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding p.R270*(1) breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) TCAAGCTTTCGCATCCATTGT 0.403000 33 87 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20649568 20649568 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:20649568C>T ENST00000428453.1 - 0 2630 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TTCCTTCTTTCCCCATCCTGT 0.597000 83 160 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58589735 58589735 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:58589735G>A ENST00000317147.5 - 20 2889 c.2557C>T c.(2557-2559)Cag>Tag p.Q853* CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q853*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q848* NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 853 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TATATTCGCTGGAAATAGCTG 0.398000 18 70 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235345322 235345322 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:235345322G>A ENST00000264183.3 - 20 3409 c.2912C>T c.(2911-2913)aCt>aTt p.T971I ARID4B_ENST00000349213.3_Missense_Mutation_p.T885I|ARID4B_ENST00000366603.2_Missense_Mutation_p.T971I NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 971 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding p.T971fs*3(1) NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTCAGCCACAGTCTGCAGTGA 0.498000 135 12 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69972190 69972190 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:69972190G>A ENST00000355303.5 + 10 1291 c.986G>A c.(985-987)gGc>gAc p.G329D ANO1_ENST00000531349.1_Missense_Mutation_p.G64D|ANO1_ENST00000316296.5_Missense_Mutation_p.G301D|ANO1_ENST00000538023.1_Missense_Mutation_p.G329D|ANO1_ENST00000530676.1_Missense_Mutation_p.G213D|ANO1_ENST00000398543.2_Missense_Mutation_p.G213D NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 329 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GAGAAGATCGGCCTGTACTTC 0.552000 45 108 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371067 48371067 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:48371067G>A ENST00000395702.2 + 2 762 c.535G>A c.(535-537)Gtc>Atc p.V179I ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.V72I Q96MN9 ZN488_HUMAN zinc finger protein 488 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 GCTAACCTCAGTCTTCCCTGC 0.562000 24 26 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30124759 30124759 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:30124759G>A ENST00000449742.2 - 5 927 c.852C>T c.(850-852)ccC>ccT p.P284P TRIM10_ENST00000376704.3_Silent_p.P284P NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 284 cytoplasm zinc ion binding ovary(1) 1 GGGCCTGCTGGGGAAAGTCCC 0.597000 41 75 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150698465 150698465 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:150698465C>T ENST00000297494.3 + 11 1737 c.1380C>T c.(1378-1380)ttC>ttT p.F460F NOS3_ENST00000484524.1_Silent_p.F460F|NOS3_ENST00000467517.1_Silent_p.F460F|NOS3_ENST00000461406.1_Silent_p.F254F NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 460 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CTCCTGTTTTCCATCAGGAGA 0.607000 57 51 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62871785 62871785 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:62871785G>A ENST00000536311.1 + 23 3795 c.3431G>A c.(3430-3432)aGg>aAg p.R1144K MYT1_ENST00000328439.1_Missense_Mutation_p.R1117K Q01538 MYT1_HUMAN myelin transcription factor 1 1117 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CAGGCTGTGAGGGGCATCCAG 0.602000 40 54 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196797325 196797325 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:196797325G>A ENST00000320493.5 + 4 644 c.556G>A c.(556-558)Gaa>Aaa p.E186K CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Intron|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 186 Sushi 3. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GTTTGGGGATGAAGAAGTGAT 0.378000 42 109 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152529135 152529135 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:152529135G>A ENST00000427231.2 - 37 4249 c.4047C>T c.(4045-4047)ctC>ctT p.L1349L NEB_ENST00000604864.1_Silent_p.L1349L|NEB_ENST00000409198.1_Silent_p.L1349L|NEB_ENST00000172853.10_Silent_p.L1349L|NEB_ENST00000397345.3_Silent_p.L1349L|NEB_ENST00000603639.1_Silent_p.L1349L NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1349 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GATCATCCTGGAGGCTTCTGA 0.438000 71 12 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8212549 8212549 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:8212549G>A ENST00000307637.4 - 2 436 c.233C>T c.(232-234)tCg>tTg p.S78L NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 78 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) GTGAGCCAGCGAGAAGGGCAA 0.577000 11 10 0 0 1 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876442 74876442 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:74876442C>T ENST00000331628.3 - 2 253 c.6G>A c.(4-6)gaG>gaA p.E2E SYNDIG1L_ENST00000554823.1_Silent_p.E2E NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 2 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 CACTCAGACTCTCCATGGTTC 0.647000 11 20 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137676837 137676837 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:137676837G>A ENST00000371817.3 + 30 2901 c.2487G>A c.(2485-2487)ggG>ggA p.G829G NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 829 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCTTGCAGGGGGAGATCGGCC 0.637000 7 32 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110735144 110735144 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:110735144C>T ENST00000331565.4 + 8 1608 c.1123C>T c.(1123-1125)Cta>Tta p.L375L NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 375 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TGAGAAAATCCTAGGGTACCT 0.552000 16 72 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400111 103400111 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:103400111C>T ENST00000358392.2 - 46 3847 c.3528_splice c.e46-1 p.G1177_splice COL11A1_ENST00000370096.3_Splice_Site_p.G1165_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1049_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1126_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1165 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCATCACCTCCCTAGAGAAG 0.433000 35 29 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103339354 103339354 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:103339354G>A ENST00000375735.2 + 88 12830 c.12686G>A c.(12685-12687)gGa>gAa p.G4229E DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4236E|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.G842E NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4229 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AGTTTTGATGGAAATCAACTT 0.388000 19 2 0 0 1 0 0 LRRC23 10233 broad.mit.edu 37 12 7021922 7021922 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7021922C>T ENST00000007969.8 + 7 1007 c.787C>T c.(787-789)Ctg>Ttg p.L263L LRRC23_ENST00000443597.2_Silent_p.L263L|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Intron NM_001135217.1|NM_201650.2 NP_001128689.1|NP_964013.1 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 263 NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 13 CCTGGGGGAGCTGGCCAAGCT 0.602000 3 94 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43524059 43524059 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:43524059G>A ENST00000400427.1 + 9 1561 c.1165G>A c.(1165-1167)Gga>Aga p.G389R C21orf128_ENST00000329015.2_Silent_p.S58S|UMODL1_ENST00000408989.2_Missense_Mutation_p.G461R|UMODL1_ENST00000400424.1_Missense_Mutation_p.G389R|UMODL1_ENST00000408910.2_Missense_Mutation_p.G461R NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 461 Fibronectin type-III 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TCTCCAGGCGGGAAGTGTGGT 0.602000 116 124 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156504330 156504330 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:156504330G>A ENST00000361170.2 - 29 3713 c.3703C>T c.(3703-3705)Ctg>Ttg p.L1235L NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1235 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TAGTCATTCAGGACCCGTAGG 0.602000 25 4 0 0 1 0 0 APOC1 341 broad.mit.edu 37 19 45422430 45422430 + Splice_Site SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:45422430G>T ENST00000588750.1 + 5 520 c.194_splice c.e5-1 p.R65_splice APOC1_ENST00000589781.1_Splice_Site_p.G20_splice|APOC1_ENST00000588802.1_Splice_Site_p.R65_splice|APOC1_ENST00000252491.4_Splice_Site_p.R65_splice|APOC1_ENST00000586638.1_Splice_Site_p.G77_splice|APOC1_ENST00000592885.1_Splice_Site_p.G114_splice P02654 APOC1_HUMAN apolipoprotein C-I 65 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity cervix(1)|large_intestine(1)|lung(2) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) CTCCCCACAGGGAGTGGTTTT 0.522000 150 163 7.77156e-87 8.03744e-87 1 1 0 C1orf127 148345 broad.mit.edu 37 1 11007824 11007824 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:11007824G>A ENST00000377004.4 - 12 2367 c.2368C>T c.(2368-2370)Cag>Tag p.Q790* C1orf127_ENST00000377008.4_Nonsense_Mutation_p.Q623* NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 641 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) AGCTCCTGCTGGAGTGAGGCC 0.627000 8 20 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58073817 58073817 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:58073817C>T ENST00000219271.3 + 4 1264 c.479C>T c.(478-480)tCg>tTg p.S160L NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 160 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 TGGTACCACTCGATGGAGGCG 0.647000 76 41 0 0 1 0 0 RTN4R 65078 broad.mit.edu 37 22 20230341 20230341 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:20230341G>A ENST00000043402.7 - 2 753 c.315C>T c.(313-315)gcC>gcT p.A105A RTN4R_ENST00000469601.1_5'UTR NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 105 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GCTCCAGGAGGGCCAGGCCAG 0.647000 16 83 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118242361 118242361 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:118242361C>T ENST00000402510.2 - 6 850 c.851G>A c.(850-852)gGa>gAa p.G284E NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 284 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AAGCACAGCTCCTGACATGGC 0.478000 66 10 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52422287 52422287 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:52422287C>T ENST00000420323.2 + 57 9369 c.9108C>T c.(9106-9108)atC>atT p.I3036I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3036 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCACCTCCATCTGCCAGTGGG 0.602000 4 14 0 0 1 0 0 GPSM2 29899 broad.mit.edu 37 1 109440582 109440582 + Splice_Site SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:109440582T>C ENST00000406462.1 + 6 1189 c.414_splice c.e6-1 p.V139_splice GPSM2_ENST00000264126.3_Splice_Site_p.V139_splice|AKNAD1_ENST00000357393.4_Intron P81274 GPSM2_HUMAN G-protein signaling modulator 2 139 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TTCATTTAGGTGGGAGAAGCA 0.378000 13 169 0 0 1 0 0 SGK3 23678 broad.mit.edu 37 8 67706033 67706033 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:67706033C>T ENST00000396596.1 + 2 276 c.62C>T c.(61-63)tCc>tTc p.S21F C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.S21F|SGK3_ENST00000520976.1_Missense_Mutation_p.S21F|SGK3_ENST00000345714.4_Missense_Mutation_p.S21F|SGK3_ENST00000521198.2_Missense_Mutation_p.S21F|C8orf44-SGK3_ENST00000520044.1_3'UTR|SGK3_ENST00000522398.1_Missense_Mutation_p.S21F NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 21 PX. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) ATTCCCAGCTCCGATGAACAC 0.383000 21 24 0 0 1 0 0 ANKRD13A 88455 broad.mit.edu 37 12 110451049 110451049 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:110451049C>A ENST00000261739.4 + 3 515 c.349C>A c.(349-351)Ctc>Atc p.L117I ANKRD13A_ENST00000550404.1_3'UTR NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 117 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 CCAAAAAATTCTCGAGGTATC 0.468000 23 29 1.7367e-05 1.74875e-05 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131865363 131865363 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:131865363G>A ENST00000359827.3 - 19 4583 c.3621C>T c.(3619-3621)atC>atT p.I1207I PLXNA4_ENST00000321063.4_Silent_p.I1207I Q9HCM2 PLXA4_HUMAN plexin A4 1207 IPT/TIG 4. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGTGCCTGCCGATGAGGTTGG 0.597000 52 55 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20073953 20073953 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:20073953G>A ENST00000351989.3 + 2 896 c.467G>A c.(466-468)aGt>aAt p.S156N DGCR8_ENST00000383024.2_Missense_Mutation_p.S156N|DGCR8_ENST00000407755.1_Missense_Mutation_p.S156N NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 156 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) AGCCCTGTCAGTGGGGACGTG 0.587000 165 179 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75264455 75264455 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:75264455C>T ENST00000325680.7 + 5 2579 c.2455C>T c.(2455-2457)Caa>Taa p.Q819* YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q624* NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 624 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCCAGCATCTCAATTTTATAT 0.537000 27 5 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24892968 24892968 + Missense_Mutation SNP G G A rs149288885 byFrequency TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:24892968G>A ENST00000382071.2 + 3 264 c.179G>A c.(178-180)cGt>cAt p.R60H C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R60H P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 60 Collagen-like 1. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GAACCAGGACGTCCTGGCAGC 0.478000 6 230 0 0 1 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103574811 103574811 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:103574811C>T ENST00000380069.3 + 10 2009 c.1933C>T c.(1933-1935)Cag>Tag p.Q645* NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 645 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 AGATGACATCCAGCGGCACCT 0.607000 96 138 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887399 12887399 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:12887399C>T ENST00000535591.1 - 3 653 c.458G>A c.(457-459)cGc>cAc p.R153H NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 153 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TCTGATATTGCGGAAGGGCAT 0.468000 81 313 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20199241 20199241 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:20199241T>C ENST00000400331.5 - 5 1051 c.743A>G c.(742-744)gAg>gGg p.E248G MACC1_ENST00000589011.1_Missense_Mutation_p.E248G|MACC1_ENST00000332878.4_Missense_Mutation_p.E248G NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 248 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TAGAGACACCTCTTGGAATTC 0.473000 46 47 0 0 1 0 0 SPOPL 339745 broad.mit.edu 37 2 139308107 139308107 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:139308107C>T ENST00000280098.4 + 3 512 c.133C>T c.(133-135)Cga>Tga p.R45* NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 45 MATH. R -> Q (in dbSNP:rs36099753). nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) CAGTTTTTGTCGAGAGGAAAT 0.303000 4 55 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328876 57328876 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:57328876C>T ENST00000326441.9 - 10 1297 c.934G>A c.(934-936)Gga>Aga p.G312R ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G188R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G186R|PEG3_ENST00000423103.2_Missense_Mutation_p.G312R|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 312 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATTATCACTCCGTGGGAAGAT 0.463000 6 74 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84738857 84738857 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:84738857G>A ENST00000372142.2 + 9 1175 c.901G>A c.(901-903)Gat>Aat p.D301N NRG3_ENST00000404547.1_Missense_Mutation_p.D522N|NRG3_ENST00000556918.1_Missense_Mutation_p.D352N|NRG3_ENST00000537893.1_Missense_Mutation_p.D172N|NRG3_ENST00000404576.2_Missense_Mutation_p.D326N|NRG3_ENST00000545131.1_Missense_Mutation_p.D172N|NRG3_ENST00000372141.2_Missense_Mutation_p.D522N NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 522 EGF-like. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CCCAGACCAGGATACGATACC 0.478000 10 14 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155029730 155029730 + Silent SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:155029730A>C ENST00000356955.2 + 12 1316 c.1215A>C c.(1213-1215)ggA>ggC p.G405G ADAM15_ENST00000368410.2_Silent_p.G111G|ADAM15_ENST00000368412.3_Silent_p.G405G|ADAM15_ENST00000360674.4_Silent_p.G405G|ADAM15_ENST00000355956.2_Silent_p.G405G|ADAM15_ENST00000271836.6_Silent_p.G405G|ADAM15_ENST00000531455.1_Silent_p.G415G|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Silent_p.G389G|ADAM15_ENST00000368413.1_Silent_p.G111G|ADAM15_ENST00000449910.2_Silent_p.G405G|ADAM15_ENST00000359280.4_Silent_p.G405G NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 405 Peptidase M12B. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCCTGGATGGAATGGGCAGCT 0.617000 36 29 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027200 37027200 + Silent SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:37027200A>C ENST00000358047.3 + 1 769 c.717A>C c.(715-717)ccA>ccC p.P239P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 239 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 TGGAGCCTCCAGAGACTGGAG 0.637000 3 46 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9305520 9305520 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:9305520T>A ENST00000377403.2 + 2 829 c.527T>A c.(526-528)tTt>tAt p.F176Y H6PD_ENST00000602477.1_Missense_Mutation_p.F187Y NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 176 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GAGAAACCCTTTGGCCATGAC 0.592000 65 43 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16535154 16535154 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:16535154C>T ENST00000270747.3 - 2 532 c.396G>A c.(394-396)tcG>tcA p.S132S ARHGEF19_ENST00000421561.1_Silent_p.S132S NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 132 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) ACTTCTTCTCCGAGCCGTGGC 0.672000 10 24 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090133 9090133 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9090133G>A ENST00000397910.4 - 1 1885 c.1682C>T c.(1681-1683)tCt>tTt p.S561F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 561 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAGGGAACAGAAGTGGTGAT 0.522000 19 28 0 0 1 0 0 NACC2 138151 broad.mit.edu 37 9 138908222 138908222 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:138908222G>A ENST00000371753.1 - 2 998 c.940C>T c.(940-942)Cgc>Tgc p.R314C NACC2_ENST00000277554.2_Missense_Mutation_p.R314C|NACC2_ENST00000467669.1_5'UTR Q96BF6 NACC2_HUMAN NACC family member 2, BEN and BTB (POZ) domain containing 314 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization nuclear body endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 AGGTCGCGGCGGATGAGGACG 0.662000 52 61 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116824957 116824957 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:116824957C>T ENST00000265132.3 - 7 947 c.685_splice c.e7+1 p.D229_splice NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 229 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TGTTCATTACCTTCTTTCTTG 0.537000 30 50 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52789550 52789550 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:52789550C>T ENST00000257974.2 - 8 1391 c.1314G>A c.(1312-1314)gtG>gtA p.V438V RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 438 Tail. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) TACAGATATTCACGGGCCCGA 0.552000 13 17 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7831586 7831586 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:7831586G>A ENST00000327325.5 + 5 947 c.829G>A c.(829-831)Gga>Aga p.G277R CLEC4M_ENST00000334806.5_Missense_Mutation_p.G226R|CLEC4M_ENST00000596707.1_Missense_Mutation_p.G210R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.G265R|CLEC4M_ENST00000596363.1_Missense_Mutation_p.G249R|CLEC4M_ENST00000359059.5_Missense_Mutation_p.G210R|CLEC4M_ENST00000357361.2_Missense_Mutation_p.G277R|CLEC4M_ENST00000248228.4_Missense_Mutation_p.G255R|CLEC4M_ENST00000597522.1_Missense_Mutation_p.G185R|CLEC4M_ENST00000595496.1_Missense_Mutation_p.G141R NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 277 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 ATTCTTCCAAGGAAACTGTTA 0.557000 30 59 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102743450 102743450 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:102743450C>T ENST00000210633.3 + 14 2172 c.2094C>T c.(2092-2094)tcC>tcT p.S698S MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000299179.5_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000370250.4_Silent_p.S693S|MRPL43_ENST00000370241.3_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 693 cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) TCCTGGCCTCCTCCCTCCTCT 0.647000 6 13 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433261 104433261 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:104433261C>T ENST00000361820.3 - 3 2033 c.1433G>A c.(1432-1434)tGg>tAg p.W478* NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 478 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CAAGCGGGTCCACATTGGCTT 0.498000 37 32 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798152 148798152 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:148798152G>A ENST00000355220.5 + 5 1108 c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K MAGEA11_ENST00000333104.4_Missense_Mutation_p.E307K NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 336 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GGTTATGTGGGAAGTCCTGAG 0.512000 26 90 0 0 1 0 0 LIPI 149998 broad.mit.edu 37 21 15537565 15537565 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:15537565C>T ENST00000344577.2 - 6 968 c.943G>A c.(943-945)Gaa>Aaa p.E315K LIPI_ENST00000536861.1_Missense_Mutation_p.E294K NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 294 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CATGATTTTTCCTTAAAACAG 0.318000 37 36 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64520612 64520612 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:64520612G>A ENST00000164139.3 - 12 1849 c.1451C>T c.(1450-1452)aCc>aTc p.T484I PYGM_ENST00000377432.3_Missense_Mutation_p.T396I NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 484 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GATGCCGTTGGTCTTATTCTG 0.567000 99 205 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40061888 40061888 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:40061888C>T ENST00000336649.4 + 26 3999 c.3999C>T c.(3997-3999)ctC>ctT p.L1333L CACNA1I_ENST00000407673.1_Silent_p.L1292L|CACNA1I_ENST00000404898.1_Silent_p.L1292L|CACNA1I_ENST00000402142.3_Silent_p.L1327L|CACNA1I_ENST00000401624.1_Silent_p.L1327L|CACNA1I_ENST00000400164.3_Silent_p.L1292L Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1327 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) TTCCCCAGCTCTTCAAGGGCA 0.572000 134 208 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98155083 98155083 + Silent SNP C C T rs151335014 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:98155083C>T ENST00000357947.3 - 13 1812 c.1587G>A c.(1585-1587)acG>acA p.T529T TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 529 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.T529T(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CACTCTCTTCCGTGGGGCCAT 0.527000 31 42 0 0 1 0 0 TEF 7008 broad.mit.edu 37 22 41783607 41783607 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:41783607C>T ENST00000266304.4 + 2 526 c.410C>T c.(409-411)tCc>tTc p.S137F TEF_ENST00000406644.3_Missense_Mutation_p.S107F NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 137 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 GCCAGCTCTTCCACAGCATCC 0.612000 51 46 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121016408 121016408 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:121016408C>T ENST00000392793.1 + 12 3959 c.3688C>T c.(3688-3690)Cct>Tct p.P1230S TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.P1230S O75443 TECTA_HUMAN tectorin alpha 1230 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CATCACAGTCCCTCGGAGCAT 0.507000 20 7 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704556 29704556 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:29704556C>T ENST00000471961.1 + 1 1509 c.461C>T c.(460-462)gCc>gTc p.A154V GAS2L1_ENST00000407854.1_Missense_Mutation_p.A154V|GAS2L1_ENST00000407647.2_Missense_Mutation_p.A154V|GAS2L1_ENST00000403764.1_Missense_Mutation_p.A154V|GAS2L1_ENST00000341313.6_Missense_Mutation_p.A154V|GAS2L1_ENST00000360113.2_Missense_Mutation_p.A154V|GAS2L1_ENST00000406549.3_Missense_Mutation_p.A154V Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 154 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 GGCCTGCTGGCCCCACGCCTC 0.672000 8 15 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39436032 39436032 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:39436032G>A ENST00000257408.4 + 2 1125 c.1028G>A c.(1027-1029)gGg>gAg p.G343E NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 343 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TATCCAGAGGGGATGAGAAAG 0.453000 31 53 0 0 1 0 0 PEX11B 8799 broad.mit.edu 37 1 145522864 145522864 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:145522864C>T ENST00000369306.3 + 4 874 c.725C>T c.(724-726)tCc>tTc p.S242F PEX11B_ENST00000537888.1_Missense_Mutation_p.S228F NM_003846.2 NP_003837.1 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 242 Interaction with PEX19 and peroxisome targeting. peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGCCTCGTGTCCTCCATCCTG 0.542000 62 52 0 0 1 0 0 ALKBH3 221120 broad.mit.edu 37 11 43918749 43918749 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:43918749C>T ENST00000378840.4 + 7 777 c.372C>T c.(370-372)tcC>tcT p.S124S ALKBH3_ENST00000532410.1_Intron|ALKBH3_ENST00000302708.4_Intron Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 125 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) tttcagattccatattgcaac 0.458000 Direct reversal of damage 8 9 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46792594 46792594 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:46792594C>T ENST00000262738.3 - 13 5750 c.5751G>A c.(5749-5751)gaG>gaA p.E1917E NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1917 EGF-like 6; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCCCCATGTTCTCGCAGGGGT 0.607000 13 17 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6736626 6736626 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:6736626C>T ENST00000264080.7 - 2 243 c.217G>A c.(217-219)Gag>Aag p.E73K GPR108_ENST00000430424.4_5'UTR NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 73 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 TCTTCTGCCTCCCGGAGGCCC 0.622000 OREG0025202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 20 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99445814 99445814 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:99445814G>A ENST00000342499.4 + 4 395 c.45G>A c.(43-45)tgG>tgA p.W15* CYP3A43_ENST00000312017.5_Missense_Mutation_p.G153E|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000354829.2_Missense_Mutation_p.G153E|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G153E Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 0 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TCCCAATGTGGAGATATGTTG 0.473000 30 23 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64485121 64485121 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:64485121C>T ENST00000355086.3 + 12 2026 c.1502C>T c.(1501-1503)aCt>aTt p.T501I RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Intron|SRGAP1_ENST00000357825.3_Intron NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 501 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CAGTATAATACTAAGTTGTTT 0.483000 21 33 0 0 1 0 0 SNAI3 333929 broad.mit.edu 37 16 88747685 88747685 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:88747685G>A ENST00000332281.5 - 2 600 c.514C>T c.(514-516)Cag>Tag p.Q172* SNAI3-AS1_ENST00000563261.1_RNA NM_178310.3 NP_840101.1 Q3KNW1 SNAI3_HUMAN snail family zinc finger 3 172 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) CAGTGCAGCTGCCGGTGCCTG 0.652000 77 38 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388870 4388870 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:4388870G>A ENST00000408920.2 - 1 746 c.656C>T c.(655-657)tCc>tTc p.S219F NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCATATAGGAAATAAAAAT 0.408000 3 10 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515173 56515173 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:56515173G>A ENST00000257940.2 + 3 1103 c.827G>A c.(826-828)cGc>cAc p.R276H RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 276 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) GCTCAGTTCCGCAATCAGGCC 0.537000 3 66 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7751588 7751588 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:7751588G>A ENST00000254846.5 + 11 2371 c.1982G>A c.(1981-1983)gGg>gAg p.G661E KDM6B_ENST00000448097.2_Missense_Mutation_p.G661E NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 661 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCCGGGGTTGGGGAGCTGCCT 0.682000 52 9 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102271687 102271687 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:102271687C>T ENST00000370103.4 - 5 857 c.644G>A c.(643-645)gGa>gAa p.G215E OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.G235E NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 235 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AAATCGGGTTCCAGATGTCTT 0.423000 24 48 0 0 1 0 0 RGS11 8786 broad.mit.edu 37 16 320594 320594 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:320594C>T ENST00000397770.3 - 15 1151 c.1134G>A c.(1132-1134)ctG>ctA p.L378L ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.L357L|RGS11_ENST00000359740.5_Silent_p.L367L O94810 RGS11_HUMAN regulator of G-protein signaling 11 378 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCAGCCCCTCCAGGGTCTGCT 0.652000 23 9 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61673497 61673497 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:61673497G>A ENST00000381103.2 + 19 2232 c.1747G>A c.(1747-1749)Gtc>Atc p.V583I KIF2A_ENST00000401507.3_Missense_Mutation_p.V603I|KIF2A_ENST00000506857.1_Missense_Mutation_p.V557I|KIF2A_ENST00000407818.3_Missense_Mutation_p.V641I|KIF2A_ENST00000509663.2_Intron NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 603 blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GGAAGAAGAAGTCTCTCCACA 0.284000 6 1 0 0 1 0 0 GET4 51608 broad.mit.edu 37 7 927101 927101 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:927101C>T ENST00000407192.1 + 3 2769 c.252C>T c.(250-252)tcC>tcT p.S84S GET4_ENST00000265857.3_Silent_p.S137S Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 137 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GTGGGGGCTCCGGGAAGCTGG 0.642000 32 49 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122002657 122002657 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:122002657T>C ENST00000498619.1 + 7 2324 c.1886T>C c.(1885-1887)tTt>tCt p.F629S CASR_ENST00000490131.1_Missense_Mutation_p.F619S|CASR_ENST00000296154.5_Missense_Mutation_p.F619S NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 619 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTCACCCTCTTTGCCGTGCTG 0.542000 40 50 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48698213 48698213 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:48698213G>A ENST00000544264.1 - 1 2135 c.1855C>T c.(1855-1857)Cgc>Tgc p.R619C CELSR3_ENST00000164024.4_Missense_Mutation_p.R619C Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 619 Cadherin 3. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCCCTGATGCGCAAGGCATAC 0.587000 8 22 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20648723 20648723 + Missense_Mutation SNP C C T rs142566677 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:20648723C>T ENST00000219151.4 - 8 1234 c.24G>A c.(22-24)atG>atA p.M8I ACSM1_ENST00000520010.1_Missense_Mutation_p.M389I|ACSM1_ENST00000307493.4_Missense_Mutation_p.M389I Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 389 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TGGCCTTCCCCATGAAACCCG 0.537000 18 59 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12027068 12027068 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:12027068C>T ENST00000196061.4 + 16 1702 c.1675C>T c.(1675-1677)Ccc>Tcc p.P559S PLOD1_ENST00000376369.3_Missense_Mutation_p.P606S NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 559 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CTATTGGTTCCCCATCTTCAC 0.607000 85 83 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99956510 99956510 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:99956510G>A ENST00000372981.1 - 3 456 c.270C>T c.(268-270)gaC>gaT p.D90D SYTL4_ENST00000455616.1_Silent_p.D90D|SYTL4_ENST00000454200.2_Silent_p.D90D|SYTL4_ENST00000372989.1_Silent_p.D90D|SYTL4_ENST00000263033.5_Silent_p.D90D|SYTL4_ENST00000276141.6_Silent_p.D90D Q96C24 SYTL4_HUMAN synaptotagmin-like 4 90 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTATGCGGCAGTCCCGACACA 0.572000 16 76 0 0 1 0 0 DERA 51071 broad.mit.edu 37 12 16109925 16109925 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:16109925G>A ENST00000428559.2 + 2 299 c.87G>A c.(85-87)gcG>gcA p.A29A DERA_ENST00000532964.1_Silent_p.A29A|DERA_ENST00000526530.1_5'UTR NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) 29 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) TGAGGCGTGCGGAACAAATCC 0.443000 6 41 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 85862874 85862874 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:85862874C>T ENST00000304195.3 - 14 1959 c.1753G>A c.(1753-1755)Ggg>Agg p.G585R FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 585 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 TGGACTTTCCCAGCCACCCAC 0.453000 103 130 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45241179 45241179 + Silent SNP C C T rs147582478 byFrequency TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:45241179C>T ENST00000352766.7 + 13 1257 c.1257C>T c.(1255-1257)atC>atT p.I419I ARHGAP8_ENST00000336963.4_Silent_p.I209I|ARHGAP8_ENST00000389773.5_Silent_p.I331I|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.I340I|ARHGAP8_ENST00000517296.3_Silent_p.I419I|ARHGAP8_ENST00000389774.2_Silent_p.I240I|ARHGAP8_ENST00000356099.6_Silent_p.I209I p.P242fs*3(1)|p.P247fs*3(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GCGAACTCATCCCCCCTGTGC 0.532000 62 62 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113684069 113684069 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:113684069C>T ENST00000295878.3 - 17 2890 c.2744G>A c.(2743-2745)aGg>aAg p.R915K NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 915 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTCGTGGTACCTTCCAGGTAC 0.403000 25 55 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158539796 158539796 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:158539796C>T ENST00000415822.2 + 11 1232 c.1091C>T c.(1090-1092)cCc>cTc p.P364L MFSD1_ENST00000392813.4_Missense_Mutation_p.P325L|MFSD1_ENST00000264266.8_Missense_Mutation_p.P315L NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 315 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATATCAGCTCCCATGTCCCCG 0.443000 29 37 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321526 56321526 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:56321526G>A ENST00000443188.1 - 5 1160 c.450C>T c.(448-450)ttC>ttT p.F150F NLRP11_ENST00000592953.1_Silent_p.F51F|NLRP11_ENST00000589824.2_Silent_p.F150F|NLRP11_ENST00000589093.1_Silent_p.F150F|NLRP11_ENST00000360133.3_Silent_p.F150F NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 150 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTCCCATCAGGAACACATTGA 0.393000 5 32 0 0 1 0 0 ZFP3 124961 broad.mit.edu 37 17 4995165 4995165 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:4995165C>T ENST00000318833.3 + 2 702 c.366C>T c.(364-366)ttC>ttT p.F122F NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 GCCAAAACTTCCTAGAGATTT 0.433000 11 35 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857546 9857546 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:9857546C>T ENST00000396573.2 - 14 4164 c.3855G>A c.(3853-3855)agG>agA p.R1285R GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.R1285R|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.R1285R NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1285 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) GACGGCTAATCCTTAGCTTGT 0.532000 28 52 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45389394 45389394 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:45389394C>T ENST00000252483.5 + 8 1265 c.1265C>T c.(1264-1266)tCc>tTc p.S422F CTB-129P6.4_ENST00000585408.1_RNA NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 422 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CTACAGCCCTCCCAGCTCTTC 0.662000 17 27 0 0 1 0 0 NAIF1 203245 broad.mit.edu 37 9 130825874 130825874 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:130825874G>A ENST00000373078.4 - 2 1036 c.817C>T c.(817-819)Cag>Tag p.Q273* NAIF1_ENST00000488519.1_5'UTR NM_197956.3 NP_931045.1 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 273 apoptosis|induction of apoptosis nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCCATGGCCTGGGCCTGGCGC 0.612000 18 24 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2943344 2943344 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:2943344G>A ENST00000416614.2 - 15 2229 c.2164C>T c.(2164-2166)Cac>Tac p.H722Y NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.H722Y|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.H722Y|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.H722Y|NOP14_ENST00000507120.1_5'UTR P78316 NOP14_HUMAN NOP14 nucleolar protein 722 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 TCCGCCAGGTGATCCGTGAGG 0.672000 8 17 0 0 1 0 0 CLEC4D 338339 broad.mit.edu 37 12 8671757 8671757 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:8671757G>A ENST00000299665.2 + 4 577 c.e4+1 NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) AGCTGAGCAGGTGTGTTGGGA 0.473000 13 32 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190423889 190423889 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:190423889G>A ENST00000534846.1 - 2 214 c.17C>T c.(16-18)tCg>tTg p.S6L FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000367462.3_Silent_p.F44F Q76B58 FAM5C_HUMAN 0 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGAGCCAGTCGAAGGGGCTTG 0.498000 28 28 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70346850 70346850 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:70346850C>T ENST00000558939.1 - 16 3139 c.1762G>A c.(1762-1764)Gcc>Acc p.A588T TLE3_ENST00000539550.1_Missense_Mutation_p.A515T|TLE3_ENST00000557997.1_Missense_Mutation_p.A580T|TLE3_ENST00000559929.1_Missense_Mutation_p.A598T|TLE3_ENST00000317509.8_Missense_Mutation_p.A576T|TLE3_ENST00000559191.1_Missense_Mutation_p.A169T|TLE3_ENST00000558201.1_Missense_Mutation_p.A594T|TLE3_ENST00000557907.1_Missense_Mutation_p.A580T|TLE3_ENST00000559048.1_Missense_Mutation_p.A588T|TLE3_ENST00000451782.2_Missense_Mutation_p.A585T|TLE3_ENST00000440567.3_Missense_Mutation_p.A578T|TLE3_ENST00000560939.1_Missense_Mutation_p.A590T|TLE3_ENST00000442299.2_Missense_Mutation_p.A580T|TLE3_ENST00000558379.1_Missense_Mutation_p.A583T|TLE3_ENST00000560589.1_Missense_Mutation_p.A532T Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 588 organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CAGACTTTGGCGTCAGGGCTA 0.637000 3 51 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161020597 161020597 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:161020597A>G ENST00000447678.1 - 21 3342 c.3222T>C c.(3220-3222)acT>acC p.T1074T LPA_ENST00000316300.5_Silent_p.T1074T NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3582 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AAGCTTGGCAAGTTCTTCCTG 0.498000 4 319 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123433228 123433228 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:123433228G>A ENST00000542678.1 - 5 3834 c.996C>T c.(994-996)acC>acT p.T332T ABCB9_ENST00000442833.2_Silent_p.T332T|ABCB9_ENST00000280560.8_Silent_p.T332T|ABCB9_ENST00000442028.2_Silent_p.T332T|ABCB9_ENST00000344275.7_Silent_p.T332T|ABCB9_ENST00000346530.5_Silent_p.T332T|ABCB9_ENST00000392439.3_Silent_p.T332T|ABCB9_ENST00000540285.1_Silent_p.T332T Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 332 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) AGCCCATGAAGGTGACCAAGG 0.557000 21 26 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16725634 16725634 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:16725634G>A ENST00000417510.1 - 0 259 TCCCCCAGAGGAGAAGCAGGA 0.677000 4 5 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4797541 4797541 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:4797541C>T ENST00000299320.5 + 9 1956 c.1478C>T c.(1477-1479)cCa>cTa p.P493L C16orf71_ENST00000590191.1_Missense_Mutation_p.P510L|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 493 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GCTCGACTCCCAAGAGGCAGG 0.637000 12 11 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64676500 64676500 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:64676500G>A ENST00000421419.2 - 16 2441 c.2327C>T c.(2326-2328)cCc>cTc p.P776L ATG2A_ENST00000377264.3_Missense_Mutation_p.P776L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 776 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AGAGGAGAAGGGCGAGGGCTC 0.642000 11 5 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29737602 29737602 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:29737602C>T ENST00000357586.2 - 13 1870 c.1684G>A c.(1684-1686)Gag>Aag p.E562K AP1B1_ENST00000415447.1_Missense_Mutation_p.E562K|AP1B1_ENST00000432560.2_Missense_Mutation_p.E562K|AP1B1_ENST00000405198.1_Missense_Mutation_p.E562K|AP1B1_ENST00000356015.2_Missense_Mutation_p.E562K|AP1B1_ENST00000402502.1_Missense_Mutation_p.E562K|AP1B1_ENST00000317368.7_Missense_Mutation_p.E562K NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 562 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CAGATAAGCTCGTCTAACAGT 0.617000 19 147 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179650595 179650595 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:179650595C>T ENST00000589042.1 - 14 2574 c.2350G>A c.(2350-2352)Gga>Aga p.G784R TTN_ENST00000360870.5_Missense_Mutation_p.G784R|TTN_ENST00000342992.6_Missense_Mutation_p.G784R|TTN_ENST00000359218.5_Missense_Mutation_p.G738R|TTN_ENST00000460472.2_Missense_Mutation_p.G738R|TTN_ENST00000342175.6_Missense_Mutation_p.G738R|TTN_ENST00000591111.1_Missense_Mutation_p.G784R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 784 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G784R(3)|p.G738R(3) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTGCATTCCCTTTTGATCA 0.463000 17 27 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446942 226446942 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:226446942A>C ENST00000272907.6 + 4 1222 c.809A>C c.(808-810)gAa>gCa p.E270A NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 270 GTCTACGAGGAAATGAAGTAC 0.552000 79 13 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72830075 72830075 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:72830075G>A ENST00000268489.5 - 9 7178 c.6506C>T c.(6505-6507)tCc>tTc p.S2169F ZFHX3_ENST00000397992.5_Missense_Mutation_p.S1255F NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2169 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTCACTGGGGGAGTTGTTAAT 0.502000 53 45 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20628605 20628605 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:20628605C>T ENST00000525748.1 + 4 1005 c.732C>T c.(730-732)atC>atT p.I244I NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 244 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GATTACCCATCTTCTTCTTGG 0.572000 21 58 0 0 1 0 0 TGM1 7051 broad.mit.edu 37 14 24718553 24718553 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:24718553T>C ENST00000206765.6 - 15 2543 c.2420A>G c.(2419-2421)gAg>gGg p.E807G TGM1_ENST00000544573.1_Missense_Mutation_p.E365G NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 807 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) AGGGATGGTCTCTCCTAAGTG 0.602000 54 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091598 9091598 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9091598C>T ENST00000397910.4 - 1 420 c.217G>A c.(217-219)Gga>Aga p.G73R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 73 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTTCTTCCCACAACCGAA 0.522000 34 56 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262173 45262173 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:45262173G>A ENST00000303230.4 - 8 2580 c.2523C>T c.(2521-2523)ctC>ctT p.L841L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 841 L -> F (in Ref. 2; AAC39759). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCTGTCGGAAGAGGGTGACGC 0.667000 6 41 0 0 1 0 0 JPH2 57158 broad.mit.edu 37 20 42788431 42788431 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:42788431G>A ENST00000372980.3 - 2 1868 c.996C>T c.(994-996)ccC>ccT p.P332P NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 332 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTGGCCGTCGGGCAGCGTGG 0.662000 37 48 0 0 1 0 0 CCSER2 54462 broad.mit.edu 37 10 86131537 86131537 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:86131537C>T ENST00000224756.8 + 2 914 c.729C>T c.(727-729)tcC>tcT p.S243S CCSER2_ENST00000372088.2_Silent_p.S243S|CCSER2_ENST00000359979.4_Silent_p.S243S NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 GATCACATTCCTTTAATAGAG 0.378000 10 23 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73723752 73723752 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:73723752C>T ENST00000200181.3 + 5 472 c.285C>T c.(283-285)acC>acT p.T95T ITGB4_ENST00000450894.3_Silent_p.T95T|ITGB4_ENST00000449880.2_Silent_p.T95T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.T95T|ITGB4_ENST00000339591.3_Silent_p.T95T NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 95 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGACACCACCCTGCGGCGCA 0.682000 11 3 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6690229 6690229 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:6690229A>G ENST00000309577.6 - 32 5137 c.4974T>C c.(4972-4974)ccT>ccC p.P1658P CHD4_ENST00000544484.1_Silent_p.P1655P|CHD4_ENST00000357008.2_Silent_p.P1630P|CHD4_ENST00000544040.1_Silent_p.P1623P|RP5-940J5.6_ENST00000501075.2_RNA Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1630 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CTGTCTCCATAGGTTCCTCTG 0.512000 3 176 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37917218 37917218 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:37917218A>G ENST00000316950.6 - 4 635 c.78T>C c.(76-78)gaT>gaC p.D26D ZNF569_ENST00000589833.1_Silent_p.D50D|ZNF569_ENST00000392149.2_Silent_p.D26D|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000592490.1_Intron NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 26 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGAGCAGGATCCAATCTCT 0.393000 33 40 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100154844 100154844 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:100154844C>T ENST00000263174.4 + 7 1403 c.1028C>T c.(1027-1029)cCg>cTg p.P343L PALMD_ENST00000605497.1_Missense_Mutation_p.P343L NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 343 regulation of cell shape cytoplasm|membrane p.P343L(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CTTCACACCCCGCAAAAAAGG 0.488000 17 26 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117175431 117175431 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:117175431C>T ENST00000003084.6 + 6 841 c.709C>T c.(709-711)Cag>Tag p.Q237* CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q237* NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 237 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGCCCTTTTTCAGGCTGGGCT 0.433000 Cystic Fibrosis 27 23 0 0 1 0 0 RSL24D1 51187 broad.mit.edu 37 15 55475591 55475591 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:55475591T>C ENST00000260443.4 - 5 516 c.340A>G c.(340-342)Aaa>Gaa p.K114E NM_016304.2 NP_057388.1 Q9UHA3 RLP24_HUMAN ribosomal L24 domain containing 1 114 ribosome biogenesis|translation nucleolus|ribosome structural constituent of ribosome central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 7 TCTTTATTTTTCTTCAATCTA 0.343000 8 3 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117710685 117710685 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:117710685G>A ENST00000368508.3 - 12 1785 c.1587C>T c.(1585-1587)atC>atT p.I529I ROS1_ENST00000368507.3_Silent_p.I538I|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 529 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CACATCCCACGATGAATTCAT 0.458000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 48 3 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141619542 141619542 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:141619542C>T ENST00000548136.1 + 1 926 c.867C>T c.(865-867)atC>atT p.I289I MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ATCCTTTCATCTTCACCCTCC 0.458000 5 76 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348175 348175 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:348175G>A ENST00000604971.1 + 3 1140 c.27G>A c.(25-27)gaG>gaA p.E9E DUSP22_ENST00000419235.2_Silent_p.E112E|DUSP22_ENST00000344450.5_Silent_p.E112E|DUSP22_ENST00000605315.1_Silent_p.E9E|DUSP22_ENST00000603453.1_Silent_p.E9E|DUSP22_ENST00000605035.1_Silent_p.E9E|DUSP22_ENST00000605863.1_Silent_p.E9E Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 112 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TTGGCTGGGAGGATGCCCTGC 0.602000 94 284 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34091156 34091156 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:34091156C>T ENST00000397527.1 + 30 5679 c.4959C>T c.(4957-4959)ctC>ctT p.L1653L CEP250_ENST00000342580.4_Silent_p.L1597L NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1653 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTCAGGATCTCGAGAGGAGAG 0.567000 79 92 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116196096 116196096 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:116196096C>T ENST00000369252.4 - 23 2381 c.2080G>A c.(2080-2082)Gga>Aga p.G694R ABLIM1_ENST00000392952.3_Missense_Mutation_p.G431R|ABLIM1_ENST00000369266.3_Missense_Mutation_p.G431R|ABLIM1_ENST00000369253.2_Missense_Mutation_p.G377R|ABLIM1_ENST00000533213.2_Missense_Mutation_p.G694R|ABLIM1_ENST00000277895.5_Missense_Mutation_p.G754R NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 754 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) ATGGACATTCCAAAGATTTCC 0.448000 29 44 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160661572 160661572 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:160661572G>A ENST00000263636.4 - 35 5179 c.5152C>T c.(5152-5154)Cct>Tct p.P1718S LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Intron|LY75_ENST00000553424.1_Intron|LY75_ENST00000554112.1_Intron NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TGGAAAGAAGGAAGCATAATC 0.388000 5 41 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670529 134670529 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:134670529C>T ENST00000398015.3 + 3 810 c.440C>T c.(439-441)tCc>tTc p.S147F EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 147 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GAGAGCTTCTCCCAGGTGGAC 0.493000 73 105 0 0 1 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103574810 103574810 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:103574810C>T ENST00000380069.3 + 10 2008 c.1932C>T c.(1930-1932)atC>atT p.I644I NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 644 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 AAGATGACATCCAGCGGCACC 0.607000 99 135 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48826487 48826487 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:48826487G>A ENST00000218176.3 - 1 1489 c.192C>T c.(190-192)acC>acT p.T64T NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 64 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 TGCCCAGCAAGGTGTCTGGGT 0.562000 4 13 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9009896 9009896 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:9009896G>A ENST00000299698.7 + 24 3165 c.2985G>A c.(2983-2985)acG>acA p.T995T A2ML1_ENST00000539547.1_Silent_p.T504T NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 839 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GGCTGCTGACGGAGGAGATCA 0.522000 77 116 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87041138 87041138 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:87041138G>A ENST00000370563.3 + 11 1849 c.1807G>A c.(1807-1809)Gac>Aac p.D603N RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 603 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) AATGAATAAGGACGTAAACAG 0.403000 29 27 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51258636 51258636 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:51258636C>T ENST00000395542.2 - 4 780 c.596G>A c.(595-597)aGg>aAg p.R199K COBL_ENST00000395540.2_Missense_Mutation_p.R199K|COBL_ENST00000265136.7_Missense_Mutation_p.R199K|COBL_ENST00000441453.1_Missense_Mutation_p.R199K O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 199 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AATGTTGTCCCTGAGGAGAAC 0.562000 30 25 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21549990 21549990 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:21549990C>T ENST00000425654.2 + 11 1588 c.1108C>T c.(1108-1110)Ctt>Ttt p.L370F CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000379510.3_Missense_Mutation_p.L370F|CNKSR2_ENST00000279451.4_Missense_Mutation_p.L370F|CNKSR2_ENST00000543067.1_Missense_Mutation_p.L321F NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 370 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AAAAGGAAACCTTCCTTGTGA 0.388000 9 2 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111530276 111530276 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:111530276T>C ENST00000261486.5 - 17 1767 c.1491A>G c.(1489-1491)aaA>aaG p.K497K CTC-459M5.2_ENST00000515563.1_RNA|EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 497 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TGTTTCTCTTTTTCCGGTATT 0.378000 14 14 0 0 1 0 0 E2F7 144455 broad.mit.edu 37 12 77423987 77423987 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:77423987G>A ENST00000322886.7 - 10 1743 c.1508C>T c.(1507-1509)tCt>tTt p.S503F E2F7_ENST00000416496.2_Missense_Mutation_p.S503F NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 503 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTGAGCAACAGAAAATACTGG 0.522000 51 64 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35704998 35704998 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:35704998G>A ENST00000373866.3 + 1 135 c.113G>A c.(112-114)gGc>gAc p.G38D ARMC12_ENST00000288065.2_Missense_Mutation_p.G38D|ARMC12_ENST00000373869.3_Missense_Mutation_p.G38D Q5T9G4 CF081_HUMAN armadillo repeat containing 12 38 binding ATCAAGGCTGGCATAAAATGC 0.617000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 28 0 0 1 0 0 UBD 10537 broad.mit.edu 37 6 29524120 29524120 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:29524120A>T ENST00000377050.4 - 2 258 c.35T>A c.(34-36)gTc>gAc p.V12D GABBR1_ENST00000355973.3_3'UTR NM_006398.3 NP_006389.2 O15205 UBD_HUMAN ubiquitin D 12 Ubiquitin 1. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 CTCGGAACGGACATGCACCTG 0.488000 31 32 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150416638 150416638 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:150416638G>A ENST00000295910.6 - 3 545 c.493C>T c.(493-495)Cca>Tca p.P165S FAM194A_ENST00000491361.1_Missense_Mutation_p.P19S NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 165 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACTGATACTGGAATTCCTGGA 0.368000 81 112 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32972844 32972844 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:32972844G>T ENST00000544455.1 + 27 10421 c.10194G>T c.(10192-10194)caG>caT p.Q3398H BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398H NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3398 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGAGTTCCCAGGCCAGTACGG 0.393000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 16 37 5.03518e-11 5.14149e-11 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27506150 27506150 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:27506150G>A ENST00000356183.4 - 16 2727 c.2712C>T c.(2710-2712)ctC>ctT p.L904L GTF3C1_ENST00000561623.1_Silent_p.L904L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 904 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TGTCGCTGACGAGAGCCCAGC 0.532000 43 31 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45234324 45234324 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:45234324C>T ENST00000066544.3 - 7 890 c.797G>A c.(796-798)cGa>cAa p.R266Q CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 266 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TAATAAACTTCGACCAGTTTT 0.358000 10 94 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236792 33236792 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:33236792C>T ENST00000401073.2 + 6 2082 c.2012C>T c.(2011-2013)tCc>tTc p.S671F KIAA1522_ENST00000373481.3_Missense_Mutation_p.S623F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S612F|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 612 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GCCCCCTTCTCCCCACCTCCC 0.642000 128 75 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712259 140712259 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140712259G>A ENST00000517417.1 + 1 2008 c.2008G>A c.(2008-2010)Gac>Aac p.D670N PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D670N NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGATCTCCGACATCCTGGC 0.697000 99 15 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48453376 48453376 + Nonsense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:48453376T>A ENST00000358536.4 - 28 5412 c.5143A>T c.(5143-5145)Aag>Tag p.K1715* PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.K1532*|PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.K1532*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.K1715*|PLXNB1_ENST00000448774.2_Nonsense_Mutation_p.K326* NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1715 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACTTGGTGCTTAATCCCTCGA 0.572000 170 30 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128471452 128471452 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:128471452G>A ENST00000322313.4 - 18 3171 c.3013C>T c.(3013-3015)Cct>Tct p.P1005S NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1005 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCTGGGTGAGGGCCACGCCTA 0.652000 14 234 0 0 1 0 0 DGKQ 1609 broad.mit.edu 37 4 954932 954932 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:954932G>A ENST00000273814.3 - 22 2705 c.2632C>T c.(2632-2634)Cga>Tga p.R878* NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 878 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGCGTGACTCGGAAGTAGGAA 0.692000 22 23 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35083353 35083353 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:35083353C>T ENST00000290378.4 - 6 1607 c.952G>A c.(952-954)Gaa>Aaa p.E318K RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 318 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCAGTGATTTCCTTCTGCATA 0.453000 166 19 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52773722 52773722 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:52773722C>T ENST00000216862.3 - 11 1934 c.1541G>A c.(1540-1542)cGa>cAa p.R514Q CYP24A1_ENST00000395954.3_Missense_Mutation_p.R372Q|CYP24A1_ENST00000460643.1_5'UTR|CYP24A1_ENST00000395955.3_Missense_Mutation_p.R448Q NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 514 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GGCGTATTATCGCTGGCAAAA 0.557000 15 18 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72009043 72009043 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:72009043C>T ENST00000378743.3 - 28 5556 c.5198G>A c.(5197-5199)gGg>gAg p.G1733E NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1733 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATCAAAATTCCCTTTACATAA 0.358000 26 37 0 0 1 0 0 PTPN1 5770 broad.mit.edu 37 20 49197870 49197870 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:49197870C>T ENST00000371621.3 + 9 1331 c.1157C>T c.(1156-1158)tCc>tTc p.S386F PTPN1_ENST00000541713.1_Missense_Mutation_p.S313F NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 386 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) CAGGCTGCCTCCCCAGCCAAA 0.587000 24 43 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60609844 60609844 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:60609844G>A ENST00000227520.5 + 1 301 c.247G>A c.(247-249)Ggg>Agg p.G83R RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 83 Pro-rich. interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 GTCACCCCAAGGGCAGCCAGA 0.657000 33 28 0 0 1 0 0 POU2F3 25833 broad.mit.edu 37 11 120175775 120175775 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:120175775G>A ENST00000260264.4 + 7 521 c.487G>A c.(487-489)Gaa>Aaa p.E163K POU2F3_ENST00000543440.2_Missense_Mutation_p.E161K NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 161 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) ATCCTCTTTAGAACCCCACCT 0.527000 36 9 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75298473 75298473 + Silent SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:75298473T>G ENST00000304771.3 - 4 2823 c.2073A>C c.(2071-2073)gcA>gcC p.A691A CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.A362A NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 691 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) CGTGAACCTTTGCATGCTCTG 0.473000 34 52 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2676817 2676817 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:2676817C>T ENST00000399655.1 + 13 2017 c.1752C>T c.(1750-1752)ttC>ttT p.F584F CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000399591.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 584 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGGCCTACTTCGTGTCCCTCT 0.607000 6 14 0 0 1 0 0 CHODL 140578 broad.mit.edu 37 21 19629404 19629404 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:19629404G>A ENST00000299295.2 + 3 898 c.507G>A c.(505-507)agG>agA p.R169R CHODL_ENST00000400127.1_Silent_p.R128R|CHODL_ENST00000400131.1_Silent_p.R128R|CHODL_ENST00000400128.1_Silent_p.R128R|CHODL_ENST00000338326.3_Silent_p.R128R|CHODL_ENST00000400135.1_Silent_p.R128R|CHODL_ENST00000543733.1_Silent_p.R150R NM_001204175.1|NM_024944.2 NP_001191104.1|NP_079220.2 Q9H9P2 CHODL_HUMAN chondrolectin 169 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) ATGATGACAGGTGTAACATGA 0.403000 7 88 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75289404 75289404 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:75289404G>A ENST00000319786.7 - 15 2937 c.2094C>T c.(2092-2094)ctC>ctT p.L698L USP54_ENST00000339859.4_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000394811.2_Intron|USP54_ENST00000408019.1_Intron|USP54_ENST00000497106.1_Intron Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 0 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ATTGCTGCAAGAGACAATGTT 0.507000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 50 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372999 24372999 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:24372999C>T ENST00000005284.3 + 4 1965 c.763C>T c.(763-765)Cac>Tac p.H255Y NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 255 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CAAAGGCTTCCACACCATCCC 0.612000 62 51 0 0 1 0 0 TMEM59L 25789 broad.mit.edu 37 19 18729265 18729265 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:18729265C>T ENST00000600490.1 + 8 1048 c.863C>T c.(862-864)aCc>aTc p.T288I TMEM59L_ENST00000262817.3_Missense_Mutation_p.T288I Q9UK28 TM59L_HUMAN transmembrane protein 59-like 288 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 AGCTGCTCCACCCTGGTGACC 0.677000 11 10 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227906890 227906890 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:227906890C>T ENST00000396625.3 - 37 3686 c.3479G>A c.(3478-3480)gGg>gAg p.G1160E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1160E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1160 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACCTGGTATCCCTGGATCCCC 0.542000 5 57 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280073 152280073 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:152280073C>T ENST00000368799.1 - 3 7324 c.7289G>A c.(7288-7290)cGg>cAg p.R2430Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2430 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGTCCCGGTCCGTCCATGGGC 0.587000 Ichthyosis 115 273 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126370273 126370273 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:126370273G>A ENST00000337318.3 - 4 1020 c.809C>T c.(808-810)cCg>cTg p.P270L RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.P270L|FAM53B_ENST00000280780.6_Missense_Mutation_p.P270L NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 270 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) AAGGACACACGGCTGGGAGCG 0.582000 4 5 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176517623 176517623 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:176517623C>T ENST00000292408.4 + 3 569 c.324C>T c.(322-324)atC>atT p.I108I FGFR4_ENST00000502906.1_Silent_p.I108I|FGFR4_ENST00000393648.2_Silent_p.I108I|FGFR4_ENST00000292410.3_Silent_p.I108I|FGFR4_ENST00000393637.1_Silent_p.I108I NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 108 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GCTCCATGATCGTCCTGCAGA 0.597000 TSP Lung(9;0.080) 26 8 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102482568 102482568 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:102482568C>T ENST00000260228.2 - 3 453 c.441G>A c.(439-441)caG>caA p.Q147Q RP11-817J15.2_ENST00000542119.1_RNA NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 147 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TACTCCAGGCCTGCAAGGCCA 0.438000 23 3 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325563 150325563 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:150325563C>T ENST00000328902.5 - 3 339 c.123G>A c.(121-123)ctG>ctA p.L41L GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 41 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAATGAGCCTCAGTCTCCTTG 0.517000 119 236 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113547963 113547963 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:113547963C>T ENST00000416899.2 + 11 1845 c.1719C>T c.(1717-1719)atC>atT p.I573I MUSK_ENST00000374438.1_Silent_p.I97I|MUSK_ENST00000374448.4_Silent_p.I581I|MUSK_ENST00000189978.5_Silent_p.I581I O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 581 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TGAGAGACATCGGAGAGGGAG 0.428000 10 28 0 0 1 0 0 OR7C1 26664 broad.mit.edu 37 19 14910890 14910890 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:14910890G>A ENST00000248073.2 - 1 133 c.59C>T c.(58-60)aCg>aTg p.T20M OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 20 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 AATCTCTGACGTTGCTGAAAA 0.458000 8 126 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141464 114141464 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:114141464G>A ENST00000276198.1 + 6 1591 c.863G>A c.(862-864)cGa>cAa p.R288Q HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.R288Q NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 288 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.R288Q(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AACGCACGCCGAAGAAAGAAG 0.488000 23 3 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116428926 116428926 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:116428926G>A ENST00000281928.3 - 17 4039 c.3833C>T c.(3832-3834)gCg>gTg p.A1278V NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1278 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CTGCTCCAACGCATTAAAGCA 0.493000 33 66 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123512533 123512533 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:123512533G>A ENST00000360772.3 - 5 534 c.156C>T c.(154-156)ttC>ttT p.F52F MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000359169.1_Silent_p.F52F|MYLK_ENST00000475616.1_Silent_p.F52F Q15746 MYLK_HUMAN myosin light chain kinase 52 Ig-like C2-type 1. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.F52F(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCCGCCCTTCGAACTTGGCGG 0.602000 24 32 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39092524 39092524 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:39092524C>T ENST00000209718.3 - 2 756 c.332G>A c.(331-333)aGa>aAa p.R111K KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 111 Linker 1.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) GCCAGGATCTCTCTGCTGGTG 0.547000 59 8 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23382520 23382520 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:23382520T>A ENST00000400181.4 + 7 1083 c.979T>A c.(979-981)Ttg>Atg p.L327M RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.L327M|KDM1A_ENST00000356634.3_Missense_Mutation_p.L307M NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 307 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGTCACACTTTTGGAAGCCAG 0.368000 20 49 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309789 24309789 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:24309789A>G ENST00000357002.4 + 4 1102 c.987A>G c.(985-987)aaA>aaG p.K329K ZNF254_ENST00000342944.6_Silent_p.K244K NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 329 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AATGTGGCAAAGCATTTATAT 0.403000 4 31 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320429 79320429 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:79320429C>T ENST00000428286.1 - 8 6884 c.5684G>A c.(5683-5685)aGc>aAc p.S1895N PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2254N Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2254 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGGAGAAAAGCTGTCTGATAT 0.453000 6 15 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107568639 107568639 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:107568639G>A ENST00000374736.3 - 31 4741 c.4347C>T c.(4345-4347)ttC>ttT p.F1449F NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1449 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCCCATTCTGGAAGAGGTCCA 0.577000 10 19 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18661787 18661787 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:18661787C>T ENST00000308799.4 + 6 1708 c.1489C>T c.(1489-1491)Ctc>Ttc p.L497F FBXW10_ENST00000395665.4_Missense_Mutation_p.L468F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L468F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L468F Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 468 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GGAAAACTTTCTCCTAAGCGG 0.527000 6 45 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87150165 87150165 + Silent SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:87150165G>T ENST00000265724.3 - 23 3130 c.2713C>A c.(2713-2715)Cga>Aga p.R905R ABCB1_ENST00000543898.1_Silent_p.R841R|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 905 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ACAACGGTTCGGAAGTTTTCT 0.413000 7 45 1.26484e-09 1.28702e-09 1 1 0 NR5A1 2516 broad.mit.edu 37 9 127262844 127262844 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:127262844G>A ENST00000373588.4 - 4 591 c.395C>T c.(394-396)cCc>cTc p.P132L NM_004959.4 NP_004950.2 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 132 cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 TGCGGGAGGGGGCGGCGGGGG 0.697000 11 28 0 0 1 0 0 OR56B1 387748 broad.mit.edu 37 11 5758698 5758698 + Missense_Mutation SNP C C T rs148131819 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:5758698C>T ENST00000317121.3 + 1 1018 c.952C>T c.(952-954)Ctt>Ttt p.L318F TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GCTGTTTGCCCTTACAAAAGA 0.408000 35 29 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155920117 155920117 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:155920117G>A ENST00000368316.1 - 25 3246 c.2776C>T c.(2776-2778)Cgt>Tgt p.R926C ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R926C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R953C|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R955C|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R954C Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 954 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGAGACAGACGGCTGCTACCT 0.622000 45 128 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729922 41729922 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:41729922C>T ENST00000242208.4 - 3 853 c.607G>A c.(607-609)Gaa>Aaa p.E203K INHBA_ENST00000442711.1_Missense_Mutation_p.E203K|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 203 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGCAACAGTTCACTCCTCTCC 0.582000 TSP Lung(11;0.080) 17 29 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130286925 130286925 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:130286925C>T ENST00000257359.6 - 3 1712 c.1006G>A c.(1006-1008)Gac>Aac p.D336N NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 336 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GTCCCGATGTCTGCCACACCC 0.602000 6 52 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28992935 28992935 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:28992935G>A ENST00000359747.4 + 15 2586 c.2557G>A c.(2557-2559)Gaa>Aaa p.E853K RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E834K|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 834 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AAGCTGCATGGAAACTTTAGA 0.433000 43 46 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464182 2464182 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:2464182A>G ENST00000278772.4 - 6 1912 c.1425T>C c.(1423-1425)agT>agC p.S475S RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S475S(2) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GTGATTTCCGACTAAAGCCTC 0.527000 3 106 0 0 1 0 0 ZNF276 92822 broad.mit.edu 37 16 89789220 89789220 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:89789220G>A ENST00000289816.5 + 2 574 c.262G>A c.(262-264)Ggt>Agt p.G88S ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S|ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000446326.2_5'UTR NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 163 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCCCCGGCTGGTCGCCGGAA 0.592000 53 47 0 0 1 0 0 IGFL2 147920 broad.mit.edu 37 19 46664137 46664137 + Splice_Site SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:46664137A>G ENST00000434646.2 + 4 664 c.374_splice c.e4+1 p.S125_splice IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Splice_Site_p.S114_splice NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 114 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) TAAATGTGAAAGGTAGGGACC 0.532000 14 24 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860284 16860284 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:16860284C>T ENST00000524140.2 + 6 1249 c.831C>T c.(829-831)gtC>gtT p.V277V NWD1_ENST00000552788.1_Silent_p.V277V|NWD1_ENST00000549814.1_Silent_p.V277V|NWD1_ENST00000379808.3_Silent_p.V277V|NWD1_ENST00000339803.6_Silent_p.V142V|NWD1_ENST00000523826.1_Silent_p.V71V NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 277 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATCACCAGGTCCTCACACGCC 0.602000 14 29 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150698342 150698342 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:150698342C>G ENST00000297494.3 + 11 1614 c.1257C>G c.(1255-1257)gaC>gaG p.D419E NOS3_ENST00000484524.1_Missense_Mutation_p.D419E|NOS3_ENST00000467517.1_Missense_Mutation_p.D419E|NOS3_ENST00000461406.1_Missense_Mutation_p.D213E NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 419 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCATCGTGGACCACCACGCCG 0.627000 33 162 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724753 38724753 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:38724753C>T ENST00000342213.2 - 1 821 c.475G>A c.(475-477)Gag>Aag p.E159K NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 159 C-type lectin. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CATCGCATCTCCTTCCAGCCT 0.677000 48 4 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754646 49754646 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:49754646G>A ENST00000304801.3 - 1 407 c.255C>T c.(253-255)ctC>ctT p.L85L NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 85 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GCAAGGATTTGAGCTCAACAG 0.512000 41 30 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331743 107331743 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:107331743G>A ENST00000335040.1 + 1 295 c.295G>A c.(295-297)Gtg>Atg p.V99M NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGGGTGTATGGTGCAAATGTT 0.483000 16 38 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80735836 80735836 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:80735836C>T ENST00000458043.2 + 43 5138 c.5132C>T c.(5131-5133)tCa>tTa p.S1711L OTOGL_ENST00000547103.1_Missense_Mutation_p.S1699L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATTGAGAAATCATTTGAAGTA 0.333000 6 7 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17434589 17434589 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:17434589C>T ENST00000262545.2 + 9 1403 c.1088C>T c.(1087-1089)cCc>cTc p.P363L PCSK2_ENST00000536609.1_Missense_Mutation_p.P328L|PCSK2_ENST00000377899.1_Missense_Mutation_p.P344L NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 363 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAAAGGAACCCCGAGGCCGGT 0.602000 30 29 0 0 1 0 0 TRIM17 51127 broad.mit.edu 37 1 228596950 228596950 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:228596950G>A ENST00000366697.2 - 5 1762 c.806C>T c.(805-807)cCa>cTa p.P269L TRIM17_ENST00000456946.2_Missense_Mutation_p.P269L|TRIM17_ENST00000366698.2_Missense_Mutation_p.P269L|TRIM17_ENST00000295033.3_Missense_Mutation_p.P269L|RP11-245P10.4_ENST00000436779.1_RNA Q9Y577 TRI17_HUMAN tripartite motif containing 17 269 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GGCAACCTCTGGGCACTGCAC 0.607000 12 260 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918231 39918231 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:39918231C>T ENST00000337304.2 + 2 1562 c.680C>T c.(679-681)tCc>tTc p.S227F ATF4_ENST00000396680.1_Missense_Mutation_p.S227F|ATF4_ENST00000404241.2_Missense_Mutation_p.S227F NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 227 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) AGCCCAGAGTCCTATCTGGGG 0.542000 8 13 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370460 17370460 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:17370460G>A ENST00000252597.3 - 6 1023 c.850C>T c.(850-852)Cag>Tag p.Q284* USHBP1_ENST00000431146.2_Nonsense_Mutation_p.Q220* NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 284 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CTGAGGGGCTGGTTGGGAAGA 0.582000 66 97 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53980363 53980363 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:53980363C>T ENST00000312233.2 - 7 1859 c.1293G>A c.(1291-1293)ctG>ctA p.L431L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 431 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 TGGTGGCATCCAGCGGGTGGT 0.642000 51 75 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196749883 196749883 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:196749883C>T ENST00000296350.5 - 5 702 c.589G>A c.(589-591)Ggg>Agg p.G197R MFI2_ENST00000296351.4_Missense_Mutation_p.G197R NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 197 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) TCACACACCCCTTCCCCAGAG 0.652000 63 103 0 0 1 0 0 RTDR1 27156 broad.mit.edu 37 22 23401775 23401775 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:23401775C>T ENST00000216036.4 - 7 1108 c.912G>A c.(910-912)gaG>gaA p.E304E NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 304 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CCTTGCGGCCCTCGGGGGCCT 0.647000 20 76 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50944159 50944159 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:50944159T>C ENST00000216080.5 - 6 953 c.785A>G c.(784-786)gAc>gGc p.D262G LMF2_ENST00000380796.3_Missense_Mutation_p.D287G|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000474879.2_Missense_Mutation_p.D287G Q9BU23 LMF2_HUMAN lipase maturation factor 2 287 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTGCTGGTCGTCCAGCAGCGC 0.642000 4 65 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91949601 91949601 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:91949601C>T ENST00000375807.3 + 7 1116 c.1045C>T c.(1045-1047)Cct>Tct p.P349S SECISBP2_ENST00000534113.2_Missense_Mutation_p.P281S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.P276S NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 349 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 ATCTTCGGATCCTTCCTACAA 0.388000 21 29 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5372023 5372023 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:5372023G>A ENST00000225296.3 - 1 357 c.157C>T c.(157-159)Ccg>Tcg p.P53S DHX33_ENST00000433302.3_Missense_Mutation_p.P53S NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 53 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCCAGGGGCGGCTGCTGCCTC 0.711000 3 27 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185184628 185184628 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:185184628T>C ENST00000265026.3 + 10 1854 c.1520T>C c.(1519-1521)gTg>gCg p.V507A MAP3K13_ENST00000443863.1_Missense_Mutation_p.V363A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.V507A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.V363A|MAP3K13_ENST00000446828.1_Missense_Mutation_p.V300A NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 507 Leucine-zipper 2. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GAGCAAGCAGTGGAAAAGAAG 0.473000 4 105 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61761101 61761101 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:61761101G>A ENST00000577390.1 - 9 2387 c.1433C>T c.(1432-1434)tCa>tTa p.S478L CDH8_ENST00000577730.1_Missense_Mutation_p.S478L|CDH8_ENST00000299345.6_Missense_Mutation_p.S478L|CDH8_ENST00000584337.1_Missense_Mutation_p.S478L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 478 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGGTACTCGTGATATCTGACT 0.413000 9 37 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118537122 118537122 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:118537122G>A ENST00000336338.5 - 35 5150 c.5085C>T c.(5083-5085)ttC>ttT p.F1695F NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1695 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATGCTTCATGGAAAGGGCGAA 0.428000 14 26 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24787875 24787875 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:24787875G>A ENST00000310677.4 - 25 3179 c.3066C>T c.(3064-3066)gtC>gtT p.V1022V ADCY4_ENST00000554068.2_Silent_p.V1022V|ADCY4_ENST00000418030.2_Silent_p.V1022V NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1022 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TTTTGCCAAGGACTCCTGTAC 0.552000 64 8 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598410 179598410 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:179598410C>T ENST00000589042.1 - 53 15930 c.15706G>A c.(15706-15708)Ggc>Agc p.G5236S TTN_ENST00000342992.6_Missense_Mutation_p.G3992S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G4919S|TTN-AS1_ENST00000582847.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4919 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGTATTTGCCTCCAAAACTA 0.393000 29 9 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44626661 44626661 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:44626661G>A ENST00000332990.5 - 5 653 c.637C>T c.(637-639)Ccc>Tcc p.P213S NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 213 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 ATGACCATGGGGAGCAGGCAG 0.542000 13 10 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58132598 58132598 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:58132598C>T ENST00000396161.5 + 3 1421 c.1111C>T c.(1111-1113)Cct>Tct p.P371S NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 371 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGGTGAAAGGCCTTTTGTGTG 0.453000 15 29 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967395 81967395 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:81967395G>A ENST00000282701.2 + 2 1140 c.820G>A c.(820-822)Gat>Aat p.D274N NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 274 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TCCCAAATGGGATAGCCACAT 0.517000 26 16 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34006261 34006261 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:34006261C>T ENST00000373381.4 - 60 9671 c.9495G>A c.(9493-9495)ggG>ggA p.G3165G NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3139 Sushi 25. integral to membrane|plasma membrane protein binding p.G3021G(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCACCACCTTCCCATTGGGGA 0.602000 9 171 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100485698 100485698 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:100485698C>A ENST00000388793.4 + 18 2579 c.2359C>A c.(2359-2361)Cca>Aca p.P787T SRRT_ENST00000347433.4_Missense_Mutation_p.P788T|SRRT_ENST00000432932.1_Missense_Mutation_p.P783T|SRRT_ENST00000457580.2_Missense_Mutation_p.P784T NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 788 Pro-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ACTCCCCTACCCACACCAGAC 0.607000 4 164 0.217242 0.217242 1 1 0 TNFRSF12A 51330 broad.mit.edu 37 16 3071913 3071913 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:3071913G>A ENST00000575124.1 + 3 662 c.639G>A c.(637-639)cgG>cgA p.R213R TNFRSF12A_ENST00000326577.4_3'UTR|TNFRSF12A_ENST00000573001.1_3'UTR|TNFRSF12A_ENST00000341627.5_3'UTR Q9NP84 TNR12_HUMAN tumor necrosis factor receptor superfamily, member 12A 107 angiogenesis|apoptosis integral to membrane receptor activity lung(1)|skin(1) 2 AGACGCGGCGGGAGCCAAGCT 0.637000 3 7 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36230906 36230906 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:36230906A>C ENST00000303965.4 - 2 692 c.203T>G c.(202-204)tTg>tGg p.L68W NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 68 SAM. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CATTTTTGACAAGATTATCTG 0.368000 9 23 0 0 1 0 0 DLX3 1747 broad.mit.edu 37 17 48072097 48072097 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:48072097C>T ENST00000434704.2 - 1 491 c.266G>A c.(265-267)gGa>gAa p.G89E NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 89 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 GTAGGAGGCTCCGTAGGTATA 0.622000 5 49 0 0 1 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142143833 142143833 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:142143833G>A ENST00000390373.2 - 0 162 GGGTCTTGTCGATACCGATAC 0.493000 95 115 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152410454 152410454 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:152410454G>T ENST00000427231.2 - 126 19716 c.19514C>A c.(19513-19515)tCc>tAc p.S6505Y NEB_ENST00000604864.1_Missense_Mutation_p.S6505Y|NEB_ENST00000409198.1_Missense_Mutation_p.S4804Y|NEB_ENST00000172853.10_Missense_Mutation_p.S4804Y|NEB_ENST00000397345.3_Missense_Mutation_p.S6505Y|NEB_ENST00000603639.1_Missense_Mutation_p.S6505Y NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 4804 Interaction with SVIL. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTCTTCTGGGAATCCTTGGC 0.453000 81 22 1.92787e-56 1.99099e-56 1 1 0 ANLN 54443 broad.mit.edu 37 7 36462335 36462335 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:36462335T>C ENST00000265748.2 + 14 2614 c.2393T>C c.(2392-2394)aTg>aCg p.M798T ANLN_ENST00000396068.2_Missense_Mutation_p.M761T NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 798 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 AGTGAATTTATGCCATCCAAA 0.398000 49 80 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13824344 13824344 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:13824344G>A ENST00000265104.4 - 39 6647 c.6543C>T c.(6541-6543)gtC>gtT p.V2181V NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2181 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTACACGCATGACAATCGTGG 0.443000 Kartagener syndrome 46 10 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155239418 155239418 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:155239418C>A ENST00000368361.4 - 3 575 c.260G>T c.(259-261)gGa>gTa p.G87V CLK2_ENST00000355560.4_Missense_Mutation_p.G86V|CLK2_ENST00000536801.1_Missense_Mutation_p.G87V|CLK2_ENST00000361168.5_Missense_Mutation_p.G87V P49760 CLK2_HUMAN CDC-like kinase 2 87 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GTAGGCATCTCCCCGATCCCG 0.547000 Other conserved DNA damage response genes 204 192 1.8298e-113 1.8951e-113 1 1 0 SLAMF8 56833 broad.mit.edu 37 1 159803058 159803058 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:159803058G>A ENST00000289707.5 + 4 829 c.680G>A c.(679-681)gGg>gAg p.G227E SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.G118E NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 227 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) TCAGCACCAGGGAAGGCCTCC 0.567000 211 180 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893013 75893013 + Silent SNP G G A rs147111006 by1000genomes TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:75893013G>A ENST00000322507.8 - 10 1953 c.1644C>T c.(1642-1644)atC>atT p.I548I COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.I548I|COL12A1_ENST00000483888.2_Silent_p.I548I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 548 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TCCCATCCGTGATAAGAATCA 0.413000 69 14 0 0 1 0 0 TEPP 374739 broad.mit.edu 37 16 58010475 58010475 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:58010475A>G ENST00000290871.5 + 1 137 c.100A>G c.(100-102)Act>Gct p.T34A TEPP_ENST00000441824.2_Missense_Mutation_p.T34A NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 34 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 CAGTCAAAGAACTGAAAGTCC 0.512000 38 32 0 0 1 0 0 SFXN5 94097 broad.mit.edu 37 2 73215456 73215456 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:73215456G>A ENST00000272433.2 - 10 686 c.556C>T c.(556-558)Cag>Tag p.Q186* SFXN5_ENST00000410065.1_Nonsense_Mutation_p.Q186*|SFXN5_ENST00000474528.1_5'UTR NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 186 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 TTGGCTTTCTGAACCAGGACA 0.498000 19 4 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412038 51412038 + Missense_Mutation SNP G G A rs141762692 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:51412038G>A ENST00000319760.6 - 1 410 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GCCACATAGCGATCACAGGCC 0.468000 11 20 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13883157 13883157 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:13883157G>A ENST00000265104.4 - 20 3134 c.3030C>T c.(3028-3030)ttC>ttT p.F1010F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1010 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCTTGCCCGGAAAATGGGCA 0.458000 Kartagener syndrome 5 97 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1042381 1042381 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:1042381G>A ENST00000263094.6 + 6 714 c.483G>A c.(481-483)acG>acA p.T161T ABCA7_ENST00000433129.1_Silent_p.T161T NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 161 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTGCTGACGTCACTGCTGC 0.682000 4 126 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77334279 77334279 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:77334279G>A ENST00000282849.5 - 17 2973 c.2555C>T c.(2554-2556)cCa>cTa p.P852L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 852 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGCTATCCCTGGATTTTTGCC 0.438000 22 78 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99770906 99770906 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:99770906G>A ENST00000370597.3 - 2 568 c.213C>T c.(211-213)atC>atT p.I71I CRTAC1_ENST00000298819.4_Silent_p.I71I|CRTAC1_ENST00000370591.2_Silent_p.I71I NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 71 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CCGCCACGACGATCTCAAAGT 0.493000 38 54 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135581896 135581896 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:135581896C>T ENST00000535601.1 + 3 748 c.326C>T c.(325-327)aCt>aTt p.T109I HTATSF1_ENST00000218364.4_Missense_Mutation_p.T109I NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 109 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) CCGGAACCCACTGATGCCAGA 0.433000 22 3 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118365428 118365428 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:118365428C>T ENST00000534358.1 + 18 5332 c.5309C>T c.(5308-5310)cCa>cTa p.P1770L KMT2A_ENST00000354520.4_Missense_Mutation_p.P1729L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P1767L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CGTGTTTTTCCATGGTTCAGT 0.333000 5 8 0 0 1 0 0 SUN3 256979 broad.mit.edu 37 7 48026965 48026965 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:48026965G>A ENST00000453192.2 - 11 1243 c.1000C>T c.(1000-1002)Cga>Tga p.R334* SUN3_ENST00000412142.1_Nonsense_Mutation_p.R258*|SUN3_ENST00000395572.2_Nonsense_Mutation_p.R346*|SUN3_ENST00000297325.4_Nonsense_Mutation_p.R346*|SUN3_ENST00000473723.1_5'UTR Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 346 SUN. integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCCTGAATCGATATAAACAA 0.383000 46 132 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48381965 48381965 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:48381965C>T ENST00000224600.4 - 4 3797 c.3684G>A c.(3682-3684)gaG>gaA p.E1228E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1228 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GCTGGAGCATCTCCTTGGCCC 0.662000 12 11 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167031894 167031894 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:167031894G>A ENST00000392766.2 - 16 1625 c.1285C>T c.(1285-1287)Cat>Tat p.H429Y ZBBX_ENST00000392767.2_Missense_Mutation_p.H429Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.H400Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.H429Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.H429Y NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 429 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGACAATCATGAAAAGCACAA 0.289000 8 24 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76506499 76506499 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:76506499C>T ENST00000389840.5 - 27 4315 c.4191G>A c.(4189-4191)gtG>gtA p.V1397V DNAH17_ENST00000585328.1_Silent_p.V1398V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGGCCTTGTCCACGATGTTGC 0.537000 75 170 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379321 114379321 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:114379321C>T ENST00000312719.5 - 5 1329 c.141G>A c.(139-141)ctG>ctA p.L47L RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L47L Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 47 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GGGCTCCACCCAGTCGACCTT 0.542000 11 12 0 0 1 0 0 SH2B2 10603 broad.mit.edu 37 7 101957830 101957830 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:101957830G>A ENST00000536178.1 + 8 1519 c.1474G>A c.(1474-1476)Gtg>Atg p.V492M SH2B2_ENST00000306803.8_Missense_Mutation_p.V454M O14492 SH2B2_HUMAN SH2B adaptor protein 2 455 SH2. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 TGGGGAGTACGTGCTGACCTT 0.657000 8 48 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54940014 54940014 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:54940014G>A ENST00000284061.3 + 12 1746 c.1566G>A c.(1564-1566)ggG>ggA p.G522G NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 522 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) AGGTGGATGGGGAGCCTTGGG 0.433000 8 2 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27346828 27346828 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:27346828C>A ENST00000316470.4 + 1 126 c.12C>A c.(10-12)tcC>tcA p.S4S NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 4 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTGAGCTCCTTCCTGAGCC 0.637000 6 69 5.18039e-06 5.23086e-06 1 1 0 PPP2R2A 5520 broad.mit.edu 37 8 26218498 26218498 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:26218498C>T ENST00000380737.3 + 6 797 c.468C>T c.(466-468)gtC>gtT p.V156V PPP2R2A_ENST00000315985.7_Silent_p.V166V NM_002717.3 NP_002708.1 protein phosphatase 2, regulatory subunit B, alpha kidney(1)|large_intestine(2)|ovary(1) 4 all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155) AGGTGCCAGTCTTTAGGCCTA 0.338000 35 48 0 0 1 0 0 ATL3 25923 broad.mit.edu 37 11 63426317 63426317 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:63426317G>A ENST00000398868.3 - 3 597 c.321C>T c.(319-321)tcC>tcT p.S107S ATL3_ENST00000538786.1_Silent_p.S89S|ATL3_ENST00000332645.4_Silent_p.S134S|RP11-697H9.2_ENST00000540307.1_RNA NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 107 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 CCCCTCTCCAGGAAAATCCTG 0.403000 42 88 0 0 1 0 0 DCUN1D1 54165 broad.mit.edu 37 3 182683387 182683387 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:182683387C>T ENST00000292782.4 - 2 311 c.158G>A c.(157-159)cGa>cAa p.R53Q DCUN1D1_ENST00000469954.1_Missense_Mutation_p.R38Q NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 53 ubiquitin ligase complex protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TACACTCTCTCGTATATAAAG 0.348000 5 62 0 0 1 0 0 MANBAL 63905 broad.mit.edu 37 20 35929739 35929739 + Missense_Mutation SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:35929739G>C ENST00000373605.3 + 3 885 c.73G>C c.(73-75)Gga>Cga p.G25R MANBAL_ENST00000397150.1_Missense_Mutation_p.G25R|MANBAL_ENST00000373606.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397152.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397156.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397151.1_Missense_Mutation_p.G25R Q9NQG1 MANBL_HUMAN mannosidase, beta A, lysosomal-like 25 integral to membrane large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 Myeloproliferative disorder(115;0.00878) GCTACGGTACGGACTCTTCCT 0.597000 64 62 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40468952 40468952 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:40468952A>C ENST00000301825.3 + 11 1661 c.1543A>C c.(1543-1545)Aag>Cag p.K515Q ENTPD3_ENST00000456402.1_Missense_Mutation_p.K515Q|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 515 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) AACCAGAAGAAAGAGGCACTC 0.537000 25 35 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533636 55533636 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:55533636G>A ENST00000220676.1 + 2 258 c.110G>A c.(109-111)cGa>cAa p.R37Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 37 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTGGCCAAGCGAATCAGTTTC 0.522000 55 55 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241929524 241929524 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:241929524C>T ENST00000366552.2 + 15 2129 c.1922C>T c.(1921-1923)cCc>cTc p.P641L WDR64_ENST00000437684.2_Missense_Mutation_p.P641L NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 641 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTTCAGAATCCCACCATGGAT 0.363000 24 26 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33584226 33584226 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:33584226G>A ENST00000262873.7 + 27 3239 c.3147G>A c.(3145-3147)caG>caA p.Q1049Q NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1007 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGGCGTTGCAGGAGGCCCACC 0.657000 23 20 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19433144 19433144 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:19433144C>T ENST00000375267.2 - 83 12315 c.12312G>A c.(12310-12312)agG>agA p.R4104R UBR4_ENST00000375226.2_Silent_p.R4080R|UBR4_ENST00000375217.2_Silent_p.R4097R|UBR4_ENST00000375254.3_Silent_p.R4104R Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4104 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACTGTTTCCACCTCCACACAT 0.552000 116 124 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81579779 81579779 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:81579779G>A ENST00000356860.3 - 39 3543 c.3205C>T c.(3205-3207)Ctg>Ttg p.L1069L CACNA2D1_ENST00000535308.1_Silent_p.L281L|CACNA2D1_ENST00000356253.5_Silent_p.L1081L NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 1081 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATATACCACAGGGAGGGATTT 0.363000 7 10 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61414206 61414206 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:61414206G>A ENST00000395348.3 - 5 1214 c.578C>T c.(577-579)tCt>tTt p.S193F SLC16A9_ENST00000395347.1_Missense_Mutation_p.S193F NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 193 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 ACAATCAGAAGATTGGAGGGG 0.388000 6 50 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67806951 67806951 + Splice_Site SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:67806951A>C ENST00000255674.6 - 21 2958 c.2670_splice c.e21-1 p.V891_splice RTTN_ENST00000454359.1_Splice_Site_p.G861_splice|RTTN_ENST00000437017.1_Splice_Site_p.V891_splice NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 891 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ACATTCTACAACCTGGGCCAG 0.403000 18 23 0 0 1 0 0 LY6G6D 58530 broad.mit.edu 37 6 31675750 31675750 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31675750G>A ENST00000503322.1 + 3 488 c.485G>A c.(484-486)gGg>gAg p.G162E XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.G162E|LY6G6F_ENST00000375832.4_Missense_Mutation_p.G162E TGGCAGGAAGGGAAGGGTCCC 0.627000 43 37 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106917019 106917019 + Missense_Mutation SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:106917019G>C ENST00000369701.3 + 10 1833 c.1606G>C c.(1606-1608)Gga>Cga p.G536R NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 536 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACCTGAGAGGAAGCCCAGT 0.567000 11 21 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564698 176564698 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:176564698G>A ENST00000367662.3 + 3 3122 c.1958G>A c.(1957-1959)cGc>cAc p.R653H PAPPA2_ENST00000367661.3_Missense_Mutation_p.R653H NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 653 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCTGATGTGCGCAAGACCTGC 0.527000 7 51 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75017886 75017886 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:75017886G>A ENST00000261978.4 - 7 1953 c.1567C>T c.(1567-1569)Ctc>Ttc p.L523F LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Missense_Mutation_p.L523F NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 523 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTGTCCCAGAGGCTGTGGCCA 0.706000 31 3 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536082 1536082 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:1536082C>T ENST00000447419.2 - 3 1320 c.1295G>A c.(1294-1296)cGg>cAg p.R432Q PTX4_ENST00000293922.1_Missense_Mutation_p.R427Q|PTX4_ENST00000440447.2_3'UTR Q96A99 PTX4_HUMAN pentraxin 4, long 432 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 AACCAGCGCCCGATCCCAGAT 0.627000 44 39 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469316 10469316 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:10469316C>T ENST00000382483.3 - 4 2515 c.2292G>A c.(2290-2292)ggG>ggA p.G764G NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 764 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) ACCCCGCGTCCCCTGCCCACC 0.652000 64 66 0 0 1 0 0 MYL3 4634 broad.mit.edu 37 3 46899902 46899902 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:46899902C>T ENST00000395869.1 - 5 582 c.531G>A c.(529-531)gaG>gaA p.E177E MYL3_ENST00000292327.4_Silent_p.E177E P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 177 EF-hand 3. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) CATTGGAGTCCTCTTGCCCAG 0.617000 75 5 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5756944 5756944 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:5756944C>T ENST00000327087.8 - 16 1640 c.1569G>A c.(1567-1569)tgG>tgA p.W523* ANO2_ENST00000356134.5_Nonsense_Mutation_p.W524*|ANO2_ENST00000546188.1_Nonsense_Mutation_p.W524*|ANO2_ENST00000538154.1_5'UTR Q9NQ90 ANO2_HUMAN anoctamin 2 528 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 AACGATCCTTCCAGGTCAGTT 0.428000 4 6 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127700867 127700867 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:127700867C>T ENST00000373555.4 - 3 457 c.124G>A c.(124-126)Gga>Aga p.G42R NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 42 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 AAGTCATCTCCTGAGTCAGCT 0.403000 17 47 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325456 9325456 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9325456C>T ENST00000308682.2 - 1 86 c.58G>A c.(58-60)Gat>Aat p.D20N NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGTTCAGGATCATCTGAGAGT 0.507000 34 52 0 0 1 0 0 OR1F2P 26184 broad.mit.edu 37 16 3266155 3266155 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:3266155C>T ENST00000576468.1 + 0 418 GATGTGACTCCCCTCCTGAAA 0.532000 10 53 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508615 106508615 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:106508615G>A ENST00000359195.3 + 2 919 c.609G>A c.(607-609)acG>acA p.T203T PIK3CG_ENST00000440650.2_Silent_p.T203T|PIK3CG_ENST00000496166.1_Silent_p.T203T NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 203 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CGTGGGTGACGTCCAAGCCCC 0.617000 29 125 0 0 1 0 0 MOXD1 26002 broad.mit.edu 37 6 132643979 132643979 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:132643979G>A ENST00000367963.3 - 8 1262 c.1144C>T c.(1144-1146)Cat>Tat p.H382Y MOXD1_ENST00000336749.3_Missense_Mutation_p.H314Y|MOXD1_ENST00000489128.1_5'UTR NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 382 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GCAAACACATGAATTCCACTT 0.463000 23 2 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50464043 50464043 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:50464043C>T ENST00000447370.2 - 2 316 c.226G>A c.(226-228)Gga>Aga p.G76R SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G76R NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 76 Ig-like V-type. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTGGTCCGTCCTTTGAACCAG 0.607000 20 43 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76411042 76411042 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:76411042C>G ENST00000262764.6 + 8 1511 c.1485C>G c.(1483-1485)caC>caG p.H495Q PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.H360Q NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 495 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) GGTCAGTTCACCGGGACCTGG 0.607000 38 5 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55544848 55544848 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:55544848G>A ENST00000436346.1 - 20 4295 c.3454C>T c.(3454-3456)Ctc>Ttc p.L1152F CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1151F|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1151F|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1152F|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1152 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GAATCATAGAGAGATTTTAGG 0.383000 3 54 0 0 1 0 0 CCDC149 91050 broad.mit.edu 37 4 24875320 24875320 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:24875320G>A ENST00000504487.1 - 3 253 c.247C>T c.(247-249)Cct>Tct p.P83S CCDC149_ENST00000389609.4_Missense_Mutation_p.P83S|CCDC149_ENST00000428116.2_Missense_Mutation_p.P28S|CCDC149_ENST00000502801.1_Missense_Mutation_p.P83S NM_001130726.2 NP_001124198.1 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 83 cervix(1)|endometrium(1)|large_intestine(2)|lung(3) 7 Breast(46;0.173) CTTTTTTCAGGAGGAAGTGAT 0.333000 11 32 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167420156 167420156 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:167420156C>T ENST00000519204.1 + 4 910 c.792C>T c.(790-792)ctC>ctT p.L264L TENM2_ENST00000518659.1_Silent_p.L385L|TENM2_ENST00000545108.1_Silent_p.L385L|TENM2_ENST00000520394.1_Silent_p.L194L|TENM2_ENST00000403607.2_Silent_p.L218L teneurin transmembrane protein 2 CCGCGGCCCTCCTCTTGGCTA 0.537000 18 35 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8188379 8188379 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:8188379G>A ENST00000600128.1 - 24 3465 c.3051C>T c.(3049-3051)ttC>ttT p.F1017F FBN3_ENST00000601739.1_Silent_p.F1017F|FBN3_ENST00000270509.2_Silent_p.F1017F Q75N90 FBN3_HUMAN fibrillin 3 1017 EGF-like 12; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CATCCAGGGCGAAGCCCCCCG 0.597000 14 17 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3991526 3991526 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:3991526G>T ENST00000404826.2 + 7 1263 c.1124G>T c.(1123-1125)aGg>aTg p.R375M SDK1_ENST00000389531.3_Missense_Mutation_p.R375M NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 375 Ig-like C2-type 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GAACCGGCCAGGGCGACGGCC 0.587000 10 38 1.49906e-05 1.51051e-05 1 1 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256408 24256408 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:24256408C>T ENST00000538205.1 + 10 1094 c.547C>T c.(547-549)Caa>Taa p.Q183* RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Nonsense_Mutation_p.Q262*|ADAMDEC1_ENST00000522298.1_Nonsense_Mutation_p.Q183*|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 262 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CATAGATGTTCAAGTGGCCTT 0.428000 33 50 0 0 1 0 0 SPSB4 92369 broad.mit.edu 37 3 140866004 140866004 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:140866004G>A ENST00000310546.2 + 3 1459 c.715G>A c.(715-717)Gac>Aac p.D239N SPSB4_ENST00000507895.1_3'UTR NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 239 SOCS box. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GCCACTGATGGACCTGTGCCG 0.627000 35 33 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471397 4471397 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:4471397C>T ENST00000325719.4 + 1 873 c.828C>T c.(826-828)atC>atT p.I276I NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTCCACATCCTCCTTGCCA 0.498000 79 100 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49225058 49225058 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:49225058C>T ENST00000327979.2 - 11 1223 c.812G>A c.(811-813)cGg>cAg p.R271Q FAM65C_ENST00000045083.2_Missense_Mutation_p.R271Q|FAM65C_ENST00000535356.1_Missense_Mutation_p.R275Q Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 271 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCCAGGCCCCGCAACTCCGT 0.682000 103 120 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6422613 6422613 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:6422613G>A ENST00000389906.2 - 10 1649 c.1550C>T c.(1549-1551)tCc>tTc p.S517F APBB1_ENST00000530885.1_Missense_Mutation_p.S295F|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.S515F|APBB1_ENST00000299402.6_Missense_Mutation_p.S515F|APBB1_ENST00000524626.1_5'UTR NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 517 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GTGGTCCAGGGAGAGTCCATT 0.547000 33 50 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47656987 47656987 + Nonsense_Mutation SNP C C T rs63750302 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:47656987C>T ENST00000406134.1 + 7 1245 c.1183C>T c.(1183-1185)Caa>Taa p.Q395* MSH2_ENST00000233146.2_Nonsense_Mutation_p.Q395*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.Q329* P43246 MSH2_HUMAN mutS homolog 2 395 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAAGAAGTTTCAAAGACAAGC 0.378000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 57 15 0 0 1 0 0 RPF1 80135 broad.mit.edu 37 1 84961718 84961718 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:84961718C>A ENST00000370654.5 + 7 868 c.853C>A c.(853-855)Cgg>Agg p.R285R NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 285 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 CCACAATCAACGGGATTACAT 0.363000 18 61 1.9806e-07 2.00688e-07 1 1 0 NLRP8 126205 broad.mit.edu 37 19 56487552 56487552 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:56487552T>G ENST00000291971.3 + 8 2830 c.2759T>G c.(2758-2760)cTc>cGc p.L920R NLRP8_ENST00000590542.1_Missense_Mutation_p.L901R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 920 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ATCTCTGCGCTCTGTAAAAAT 0.413000 29 33 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57233561 57233561 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:57233561G>A ENST00000343433.6 - 5 1084 c.1004C>T c.(1003-1005)tCa>tTa p.S335L C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 335 p.S335L(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTCAGATATGAAATTGTTGC 0.353000 31 75 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48124592 48124592 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:48124592G>A ENST00000244043.4 - 10 1397 c.1368C>T c.(1366-1368)ttC>ttT p.F456F PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 456 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CCAGCACAAGGAACACAAATC 0.562000 18 86 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 122000994 122000994 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:122000994G>T ENST00000265922.3 - 5 1085 c.624C>A c.(622-624)gaC>gaA p.D208E DBC1_ENST00000373964.2_Missense_Mutation_p.D208E NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 208 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 AGTCCAGATTGTCATAGCTGT 0.502000 13 37 6.94344e-10 7.07013e-10 1 1 0 FGF10 2255 broad.mit.edu 37 5 44310584 44310584 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:44310584G>A ENST00000264664.4 - 2 488 c.374C>T c.(373-375)gCc>gTc p.A125V NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 125 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) GCTGTTAATGGCTTTGACGGC 0.353000 5 2 0 0 1 0 0 NR2E1 7101 broad.mit.edu 37 6 108492756 108492756 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:108492756C>T ENST00000368986.4 + 2 828 c.120C>T c.(118-120)ttC>ttT p.F40F NR2E1_ENST00000368983.3_Silent_p.F77F NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 40 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) CAGGTTTTTTCAAACGGAGCA 0.567000 148 17 0 0 1 0 0 PXN 5829 broad.mit.edu 37 12 120652670 120652670 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:120652670G>A ENST00000397506.3 - 6 1725 c.672C>T c.(670-672)ctC>ctT p.L224L PXN_ENST00000424649.2_Silent_p.L378L|PXN_ENST00000458477.2_Silent_p.L245L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Silent_p.L412L|PXN_ENST00000267257.7_Silent_p.L426L|PXN_ENST00000536957.1_Silent_p.L410L P49023 PAXI_HUMAN paxillin 412 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGGGGAGAAGAGGTTGTGGT 0.617000 38 51 0 0 1 0 0 NAA35 60560 broad.mit.edu 37 9 88631453 88631453 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:88631453G>A ENST00000361671.5 + 18 1701 c.e18-1 NM_024635.3 NP_078911.3 Q5VZE5 NAA35_HUMAN N(alpha)-acetyltransferase 35, NatC auxiliary subunit smooth muscle cell proliferation cytoplasm|nucleus|plasma membrane central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 25 TATCCTTTAAGGTATCTCTCT 0.363000 21 27 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25270530 25270530 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:25270530G>A ENST00000400359.4 + 13 1447 c.1440G>A c.(1438-1440)ccG>ccA p.P480P SGSM1_ENST00000400358.4_Intron NM_001039948.2|NM_133454.2 NP_001035037.1|NP_597711.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 480 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CGCCAAGCCCGAAGGAGCAGC 0.632000 9 10 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7802714 7802714 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:7802714C>T ENST00000380358.4 + 15 2575 c.2574C>T c.(2572-2574)aaC>aaT p.N858N CHD3_ENST00000330494.7_Silent_p.N799N|CHD3_ENST00000358181.4_Silent_p.N799N NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 799 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCATCATTAACTGGGAGCGGG 0.537000 130 18 0 0 1 0 0 SF3B3 23450 broad.mit.edu 37 16 70562809 70562809 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:70562809G>T ENST00000302516.5 + 3 315 c.104G>T c.(103-105)gGg>gTg p.G35V NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 35 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GTTTCCCGTGGGAAGATCTTG 0.478000 13 53 6.49762e-13 6.64415e-13 1 1 0 GPR158 57512 broad.mit.edu 37 10 25887683 25887683 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:25887683C>T ENST00000376351.3 + 11 3487 c.3128C>T c.(3127-3129)tCc>tTc p.S1043F GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1043 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCCACTTTTTCCTTAAAGGAG 0.453000 16 9 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58491917 58491917 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:58491917A>G ENST00000344743.3 - 2 194 c.53T>C c.(52-54)tTg>tCg p.L18S GLYAT_ENST00000529732.1_Missense_Mutation_p.L18S|GLYAT_ENST00000278400.3_Missense_Mutation_p.L18S NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 18 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GCTCTTCCTCAAGGATTTCTC 0.443000 18 13 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365276 13365276 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:13365276G>A ENST00000379287.3 - 2 1536 c.872C>T c.(871-873)cCg>cTg p.P291L GFOD1_ENST00000379284.1_Missense_Mutation_p.P188L NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 291 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GGCCTTCTCCGGAAGCAGGGA 0.697000 27 83 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122614161 122614161 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:122614161C>T ENST00000319080.6 + 5 855 c.723C>T c.(721-723)ctC>ctT p.L241L Q9HAP2 MLXIP_HUMAN MLX interacting protein 241 Required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) ATGAGGACCTCTCCAGCCTGG 0.602000 4 15 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71825755 71825755 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:71825755C>T ENST00000258104.3 + 33 3859 c.3582C>T c.(3580-3582)acC>acT p.T1194T DYSF_ENST00000394120.2_Silent_p.T1195T|DYSF_ENST00000429174.2_Silent_p.T1194T|DYSF_ENST00000409366.1_Silent_p.T1195T|DYSF_ENST00000409582.3_Silent_p.T1211T|DYSF_ENST00000413539.2_Silent_p.T1225T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.T1212T|DYSF_ENST00000409744.1_Silent_p.T1181T|DYSF_ENST00000410041.1_Silent_p.T1212T|DYSF_ENST00000409651.1_Silent_p.T1226T|DYSF_ENST00000409762.1_Silent_p.T1211T NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1194 C2 4. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TGAAGAACACCCTTAACCCCA 0.602000 48 16 0 0 1 0 0 EVA1A 84141 broad.mit.edu 37 2 75745252 75745252 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:75745252G>A ENST00000233712.1 - 3 452 c.15C>T c.(13-15)ctC>ctT p.L5L EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000393913.3_Silent_p.L5L|EVA1A_ENST00000410113.1_Silent_p.L5L|EVA1A_ENST00000410071.1_Silent_p.L5L NM_032181.2 NP_115557.1 eva-1 homolog A (C. elegans) GGCTGTGGCTGAGGGGCAGCC 0.567000 5 49 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6661491 6661491 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:6661491G>A ENST00000299441.3 - 2 1765 c.1354C>T c.(1354-1356)Ctg>Ttg p.L452L NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 452 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAGCCCGCAGTGGAGGTGAG 0.592000 6 10 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585571 7585571 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:7585571G>A ENST00000379802.3 + 24 8417 c.8076G>A c.(8074-8076)caG>caA p.Q2692Q DSP_ENST00000418664.2_Silent_p.Q2093Q NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2692 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCCTGCTCAGAAAGCCTTCA 0.557000 58 102 0 0 1 0 0 POFUT2 23275 broad.mit.edu 37 21 46687372 46687372 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:46687372G>A ENST00000331343.7 - 8 1295 c.1269C>T c.(1267-1269)ctC>ctT p.L423L POFUT2_ENST00000471540.1_Intron|POFUT2_ENST00000349485.5_Intron NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 0 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) AGACTCAGACGAGGAGGCAAA 0.493000 17 63 0 0 1 0 0 CCND2 894 broad.mit.edu 37 12 4383338 4383338 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:4383338C>T ENST00000261254.3 + 1 401 c.132C>T c.(130-132)ttC>ttT p.F44F RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 44 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) GCTCCTACTTCAAGTGCGTGC 0.652000 T IGL@ """NHL,CLL""" 50 55 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922179 78922179 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:78922179C>T ENST00000261751.3 - 5 579 c.468G>A c.(466-468)gaG>gaA p.E156E CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 156 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 AGTACTTCACCTCAATCTTGC 0.562000 45 4 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66330268 66330268 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:66330268G>A ENST00000513398.1 + 0 2487 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TCCCTGCAGGGGGAAGTGGAG 0.602000 83 164 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26203522 26203522 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:26203522G>A ENST00000264712.3 - 1 1844 c.1265C>T c.(1264-1266)cCt>cTt p.P422L KIF3C_ENST00000405914.1_Missense_Mutation_p.P422L NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 422 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGCCCTCAGGGTACCCAGG 0.662000 82 13 0 0 1 0 0 HNRNPR 10236 broad.mit.edu 37 1 23664332 23664332 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:23664332C>T ENST00000374612.1 - 4 422 c.299G>A c.(298-300)gGa>gAa p.G100E HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000427764.2_Missense_Mutation_p.G100E|HNRNPR_ENST00000478691.1_5'UTR|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000374616.3_Missense_Mutation_p.G100E|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G100E NM_001102398.1|NM_005826.3 NP_001095868.1|NP_005817.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 100 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) CTTCATAACTCCACATAAAAA 0.363000 55 39 0 0 1 0 0 ARRB1 408 broad.mit.edu 37 11 74983964 74983964 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:74983964C>T ENST00000420843.2 - 12 1070 c.973G>A c.(973-975)Gtg>Atg p.V325M ARRB1_ENST00000393505.4_Missense_Mutation_p.V325M|ARRB1_ENST00000360025.3_Missense_Mutation_p.V325M NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 325 Interaction with TRAF6. G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 ACCAGCTTCACTTTCACTTTG 0.622000 20 39 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31215761 31215761 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:31215761T>G ENST00000349752.5 - 2 881 c.242A>C c.(241-243)cAg>cCg p.Q81P GALNT14_ENST00000406653.1_Missense_Mutation_p.Q61P|GALNT14_ENST00000356174.3_Missense_Mutation_p.Q81P|GALNT14_ENST00000420311.2_Missense_Mutation_p.Q46P|GALNT14_ENST00000324589.5_Intron NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 81 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) ACTCTCCCGCTGGTTGAAAGC 0.567000 109 27 0 0 1 0 0 TTC24 164118 broad.mit.edu 37 1 156552955 156552955 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:156552955G>A ENST00000368236.3 + 4 1068 c.1032G>A c.(1030-1032)cgG>cgA p.R344R TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.R344R NM_001105669.2 NP_001099139.2 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 344 binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 20 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGCTGCCCGGGACTCTGGTA 0.647000 55 46 0 0 1 0 0 SLC35E3 55508 broad.mit.edu 37 12 69140394 69140394 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:69140394C>T ENST00000398004.2 + 1 509 c.237C>T c.(235-237)ctC>ctT p.L79L NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 79 Poly-Leu. integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) GGCTCCTCCTCCTGGCCCTCA 0.577000 24 35 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161528978 161528978 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:161528978G>A ENST00000392142.4 + 21 4244 c.4096G>A c.(4096-4098)Ggg>Agg p.G1366R MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1316R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1362R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1312R NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1366 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CGTCGACACCGGGGAGCTGAT 0.577000 12 41 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352612 168352612 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:168352612C>T ENST00000366806.2 + 30 4699 c.4557C>T c.(4555-4557)gaC>gaT p.D1519D MLLT4_ENST00000447894.2_Silent_p.D1519D|MLLT4_ENST00000344191.4_Silent_p.D1519D|MLLT4_ENST00000392108.3_Silent_p.D1519D|MLLT4_ENST00000400822.3_Silent_p.D1518D|MLLT4_ENST00000392112.1_Silent_p.D1502D|MLLT4_ENST00000351017.4_Silent_p.D1526D P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1519 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GGAAGCGGGACGCCAAGGAGA 0.612000 T MLL AL 11 24 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4780636 4780636 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:4780636C>T ENST00000328914.4 + 2 728 c.728C>T c.(727-729)tCc>tTc p.S243F FOXK1_ENST00000446823.1_Missense_Mutation_p.S80F NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 243 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 p.S243F(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CCCGTCCCCTCCCCGACGGGC 0.701000 30 13 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41551479 41551479 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:41551479C>T ENST00000396942.1 - 29 3552 c.3469G>A c.(3469-3471)Gac>Aac p.D1157N ANK1_ENST00000379758.2_Missense_Mutation_p.D1157N|ANK1_ENST00000289734.7_Missense_Mutation_p.D1157N|ANK1_ENST00000265709.8_Missense_Mutation_p.D1198N|ANK1_ENST00000352337.4_Missense_Mutation_p.D1157N|ANK1_ENST00000396945.1_Missense_Mutation_p.D1157N|ANK1_ENST00000347528.4_Missense_Mutation_p.D1157N P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1157 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCGGGTTGTCGGTCCAGGAA 0.657000 24 39 0 0 1 0 0 ACKR2 1238 broad.mit.edu 37 3 42906432 42906432 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:42906432C>T ENST00000422265.1 + 3 613 c.438C>T c.(436-438)atC>atT p.I146I CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.I146I|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.I146I|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 ACCTGGAGATCGTTCATGCTC 0.507000 59 11 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18257755 18257755 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:18257755C>T ENST00000286479.3 + 2 349 c.242C>T c.(241-243)aCa>aTa p.T81I NAT2_ENST00000520116.1_Intron NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 81 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) GCTCTGACCACAATCGGTTTT 0.463000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 18 74 0 0 1 0 0 ARSG 22901 broad.mit.edu 37 17 66416533 66416533 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:66416533T>C ENST00000448504.2 + 12 2303 c.1507T>C c.(1507-1509)Tac>Cac p.Y503H RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.Y339H NM_014960.4 NP_055775.2 Q96EG1 ARSG_HUMAN arylsulfatase G 503 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGCGCAGATTACACTCAGGA 0.527000 124 157 0 0 1 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594944 61594944 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:61594944T>C ENST00000370349.3 + 8 920 c.716T>C c.(715-717)gTc>gCc p.V239A SLC17A9_ENST00000370351.4_Missense_Mutation_p.V245A|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 245 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 AGGGCAGCCGTCGTCTCCCAG 0.697000 5 25 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96300182 96300182 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:96300182C>T ENST00000344280.3 - 5 909 c.352G>A c.(352-354)Gac>Aac p.D118N NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 118 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGAAACCTGTCTCTCTGGTCA 0.353000 20 23 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153914354 153914354 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:153914354G>A ENST00000361217.4 - 6 1464 c.1046C>T c.(1045-1047)cCc>cTc p.P349L NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 349 DENN. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGCTTCCAAGGGTAGGCGGTG 0.632000 38 71 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13736178 13736178 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:13736178C>T ENST00000354817.3 + 9 1222 c.1078C>T c.(1078-1080)Cca>Tca p.P360S FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 360 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 CCATAAGGCCCCAGCATTCCT 0.448000 12 14 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112102 76112102 + Silent SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:76112102G>T ENST00000324432.5 + 5 1056 c.546G>T c.(544-546)gtG>gtT p.V182V DTX2_ENST00000446820.2_Silent_p.V182V|DTX2_ENST00000307569.8_Silent_p.V182V|DTX2_ENST00000446600.1_Silent_p.V91V|DTX2_ENST00000413936.2_Silent_p.V182V|DTX2_ENST00000430490.2_Silent_p.V182V NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 182 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CTTACCCGGTGACCACCATCA 0.652000 14 27 2.31682e-05 2.33128e-05 1 1 0 DOCK11 139818 broad.mit.edu 37 X 117786037 117786037 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:117786037G>A ENST00000276204.6 + 42 4766 c.4692G>A c.(4690-4692)atG>atA p.M1564I DOCK11_ENST00000276202.7_Missense_Mutation_p.M1564I Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1564 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 ACAGACCTATGAAGGTATGTT 0.343000 19 0 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 658005 658005 + Silent SNP C C T rs144847778 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:658005C>T ENST00000255622.6 + 17 2167 c.2124C>T c.(2122-2124)atC>atT p.I708I PDE6B_ENST00000429163.2_Silent_p.I429I|PDE6B_ENST00000496514.1_Silent_p.I708I NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 708 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GGAAGGAGATCGTCATGTGAG 0.622000 27 56 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36748880 36748880 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:36748880G>A ENST00000379881.3 - 7 856 c.768C>T c.(766-768)atC>atT p.I256I CCDC169-SOHLH2_ENST00000511166.1_Silent_p.I333I|SOHLH2_ENST00000554962.1_Silent_p.I333I NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CGGCTGGAGAGATTTTCTCCC 0.373000 19 51 0 0 1 0 0 CHRAC1 54108 broad.mit.edu 37 8 141525238 141525238 + Missense_Mutation SNP G G A rs140626835 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:141525238G>A ENST00000519533.1 + 2 350 c.161G>A c.(160-162)aGa>aAa p.R54K CHRAC1_ENST00000220913.5_Silent_p.K96K Q9NRG0 CHRC1_HUMAN chromatin accessibility complex 1 0 chromatin remodeling chromatin accessibility complex|epsilon DNA polymerase complex DNA-directed DNA polymerase activity|sequence-specific DNA binding ovary(2) 2 all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.107) TATTACCAAAGAAGATTTTAG 0.343000 43 68 0 0 1 0 0 RABL3 285282 broad.mit.edu 37 3 120417383 120417383 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:120417383G>A ENST00000273375.3 - 5 450 c.421C>T c.(421-423)Cca>Tca p.P141S RABL3_ENST00000483733.1_Missense_Mutation_p.P141S|RABL3_ENST00000491398.1_5'UTR NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 141 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) ACCAACAGTGGTATTTGGTTA 0.368000 175 237 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31592981 31592981 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31592981C>T ENST00000376033.2 + 6 731 c.497C>T c.(496-498)tCt>tTt p.S166F PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.S166F NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 166 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TCACGATTCTCTCGAGAGGAA 0.552000 59 61 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33451019 33451019 + Silent SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:33451019A>T ENST00000283629.3 - 6 1159 c.630T>A c.(628-630)gtT>gtA p.V210V UBP1_ENST00000447368.2_Silent_p.V210V|UBP1_ENST00000283628.5_Silent_p.V210V NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 210 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TAAAGGTGTCAACCTGGATCC 0.438000 49 5 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715923 13715923 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:13715923C>T ENST00000279593.3 - 13 4458 c.4249G>A c.(4249-4251)Gcc>Acc p.A1417T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1417 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCGGCCTGGCTTTCGACGCC 0.607000 11 12 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501596 90501596 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:90501596G>A ENST00000325643.5 + 4 2260 c.2194G>A c.(2194-2196)Gaa>Aaa p.E732K NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GGCTCTGGACGAAGACAAGGA 0.557000 11 25 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141419018 141419018 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:141419018G>A ENST00000397541.2 + 4 1138 c.732G>A c.(730-732)atG>atA p.M244I WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 244 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) AGCGCTCTATGAAAACTTTTA 0.323000 11 32 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7842962 7842962 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7842962C>T ENST00000329913.3 - 2 654 c.607G>A c.(607-609)Gag>Aag p.E203K NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 203 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity p.E203K(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 ACCAGTATCTCCAGGAATAAC 0.502000 31 51 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3267006 3267006 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:3267006C>T ENST00000520002.1 - 14 2241 c.1686G>A c.(1684-1686)ggG>ggA p.G562G CSMD1_ENST00000542608.1_Silent_p.G561G|CSMD1_ENST00000539096.1_Silent_p.G561G|CSMD1_ENST00000537824.1_Silent_p.G561G|CSMD1_ENST00000602723.1_Silent_p.G562G|CSMD1_ENST00000400186.3_Silent_p.G562G|CSMD1_ENST00000602557.1_Silent_p.G562G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 562 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TAACTCTCTCCCCCACCAGCT 0.562000 14 19 0 0 1 0 0 C1orf105 92346 broad.mit.edu 37 1 172434497 172434497 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:172434497C>T ENST00000367727.4 + 6 598 c.400C>T c.(400-402)Cca>Tca p.P134S C1orf105_ENST00000367725.4_Missense_Mutation_p.P124S|C1orf105_ENST00000367726.1_3'UTR NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 134 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 TGATGACATCCCAACAGGTTT 0.353000 21 20 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134989114 134989114 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:134989114G>A ENST00000535938.1 + 8 933 c.766G>A c.(766-768)Gag>Aag p.E256K SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.E256K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E256K NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 256 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TGTCCCTGAGGAGAAGATGGA 0.473000 55 6 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166189 19166189 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:19166189G>A ENST00000375371.3 - 6 2445 c.2424C>T c.(2422-2424)ttC>ttT p.F808F NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 808 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACTTGGGGCCGAAGTAGCCCA 0.597000 21 44 0 0 1 0 0 RP11-691N7.6 0 broad.mit.edu 37 11 57509641 57509641 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:57509641C>T ENST00000531074.1 + 1 7 c.7C>T c.(7-9)Ccc>Tcc p.P3S C11orf31_ENST00000534355.1_Silent_p.F107F|C11orf31_ENST00000388857.4_Silent_p.F107F|TMX2-CTNND1_ENST00000528395.1_Intron AACTCAAATTCCCTGAGCCTC 0.527000 4 9 0 0 1 0 0 HSPD1 3329 broad.mit.edu 37 2 198353814 198353814 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:198353814T>C ENST00000388968.3 - 9 1394 c.1127A>G c.(1126-1128)gAg>gGg p.E376G HSPD1_ENST00000345042.2_Missense_Mutation_p.E376G NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 376 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) ATCTAACTGCTCAATGATTTC 0.388000 5 52 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19193608 19193608 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:19193608C>T ENST00000328041.6 + 1 319 c.122C>T c.(121-123)tCg>tTg p.S41L RP11-97N19.2_ENST00000446849.1_RNA NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 41 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGGTCGCTGTCGAGCCTGCGA 0.766000 5 17 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17279938 17279938 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:17279938G>A ENST00000375541.5 + 21 3217 c.3148G>A c.(3148-3150)Gac>Aac p.D1050N CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1050 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCAGGAGCGCGACGAGGGCCT 0.652000 19 33 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183650253 183650253 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:183650253A>C ENST00000511685.1 + 14 2627 c.2504A>C c.(2503-2505)aAa>aCa p.K835T TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.K835T teneurin transmembrane protein 3 CAAGCTGCCAAATCCTTTTAT 0.448000 30 21 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72744236 72744236 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:72744236G>A ENST00000252037.4 + 4 418 c.349G>A c.(349-351)Gcc>Acc p.A117T FKBP6_ENST00000431982.2_Missense_Mutation_p.A112T|FKBP6_ENST00000413573.2_Missense_Mutation_p.A87T NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 117 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) ACCGAACTACGCCTATGGAAC 0.532000 35 76 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110168821 110168821 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:110168821C>T ENST00000256578.3 + 4 915 c.555C>T c.(553-555)ttC>ttT p.F185F AMPD2_ENST00000393688.3_Silent_p.F66F|AMPD2_ENST00000528454.1_Silent_p.F67F|AMPD2_ENST00000342115.4_Silent_p.F104F|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.F110F|AMPD2_ENST00000528667.1_Silent_p.F185F NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 185 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) AGCAAGATTTCCTGAAGACGG 0.632000 21 49 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 6 180 0 0 1 0 0 KLK13 26085 broad.mit.edu 37 19 51563062 51563062 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:51563062C>T ENST00000596955.1 - 3 574 c.528G>A c.(526-528)tgG>tgA p.W176* KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595793.1_Intron|KLK13_ENST00000595547.1_Intron Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 0 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GGGCCTCAGGCCACCTGTGTG 0.552000 21 35 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28662324 28662324 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:28662324C>A ENST00000280904.6 - 9 1586 c.1143G>T c.(1141-1143)aaG>aaT p.K381N DSC2_ENST00000251081.6_Missense_Mutation_p.K381N NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 381 Cadherin 3. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCACTAAGTCCTTATCCTCAA 0.318000 17 26 1.55795e-14 1.59645e-14 1 1 0 PKIA 5569 broad.mit.edu 37 8 79514046 79514046 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:79514046C>T ENST00000396418.2 + 4 707 c.221C>T c.(220-222)tCt>tTt p.S74F PKIA_ENST00000518467.1_Missense_Mutation_p.S74F|PKIA_ENST00000352966.5_Missense_Mutation_p.S74F NM_006823.3|NM_181839.2 NP_006814.1|NP_862822.1 P61925 IPKA_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor alpha 74 cAMP-dependent protein kinase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 GCAGCAAAATCTGAAAGCTAA 0.433000 9 15 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10448788 10448788 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:10448788T>C ENST00000245503.5 - 5 764 c.380A>G c.(379-381)aAc>aGc p.N127S MYH2_ENST00000532183.1_Missense_Mutation_p.N127S|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.N127S NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 127 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTTGTAGGGGTTGACAGTGAC 0.473000 48 7 0 0 1 0 0 FGF1 2246 broad.mit.edu 37 5 141993609 141993609 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:141993609G>A ENST00000359370.6 - 2 163 c.84C>T c.(82-84)ctC>ctT p.L28L FGF1_ENST00000407758.1_Silent_p.L28L|FGF1_ENST00000337706.2_Silent_p.L28L|FGF1_ENST00000419524.2_Silent_p.L28L|AC005592.2_ENST00000414314.1_RNA|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000378046.1_Silent_p.L28L|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000360966.5_Silent_p.L28L NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) 28 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) TACAGTAGAGGAGTTTGGGCT 0.557000 33 11 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85449926 85449926 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:85449926A>T ENST00000393217.2 + 8 1416 c.1355A>T c.(1354-1356)gAt>gTt p.D452V NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 452 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GAAAATGTAGATAGACAGACT 0.299000 15 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179425152 179425152 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:179425152A>G ENST00000589042.1 - 326 85931 c.85707T>C c.(85705-85707)ctT>ctC p.L28569L TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L26001L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.L19629L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.L19504L|TTN_ENST00000342175.6_Silent_p.L19696L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.L26928L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26928 Ig-like 132. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGACCAGCAAAGTGTCATAG 0.413000 17 2 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76885817 76885817 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:76885817C>T ENST00000285871.4 + 6 802 c.675C>T c.(673-675)gtC>gtT p.V225V CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 225 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GACATCAGGTCGTCCTAAAGG 0.353000 28 46 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423089 33423089 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:33423089C>T ENST00000395064.2 + 2 480 c.212C>T c.(211-213)cCt>cTt p.P71L NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 71 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 GCTGCCTCTCCTTACTTCCAT 0.557000 91 345 0 0 1 0 0 PLA2G2C 391013 broad.mit.edu 37 1 20490512 20490512 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:20490512C>T ENST00000429261.2 - 4 482 c.422G>A c.(421-423)aGg>aAg p.R141K PLA2G2C_ENST00000495760.2_Intron|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.R142K phospholipase A2, group IIC NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1) 7 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCTGCCACACCTGGGCTGGCT 0.547000 9 8 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40939481 40939481 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:40939481C>T ENST00000246914.5 + 7 1683 c.1662C>T c.(1660-1662)ttC>ttT p.F554F WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 554 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCAGTGTCTTCCCCCCTGAGC 0.607000 131 16 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577751 14577751 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:14577751C>T ENST00000544627.1 + 2 1246 c.926C>T c.(925-927)cCt>cTt p.P309L ATF7IP_ENST00000543189.1_Missense_Mutation_p.P301L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P301L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P301L|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P301L|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 301 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GAACCAGTTCCTGAAATTGAC 0.383000 18 38 0 0 1 0 0 CDK10 8558 broad.mit.edu 37 16 89759817 89759817 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:89759817C>T ENST00000331006.8 + 7 2150 c.409C>T c.(409-411)Ctg>Ttg p.L137L CDK10_ENST00000353379.7_Silent_p.L184L|CDK10_ENST00000505473.1_Silent_p.L113L Q15131 CDK10_HUMAN cyclin-dependent kinase 10 184 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) GGATTTCGGCCTGGCCCGGGC 0.607000 40 82 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89247062 89247062 + RNA SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:89247062A>G ENST00000496168.1 - 0 288 TGTCTCCTACAGATGCAGACA 0.468000 8 133 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157497674 157497674 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:157497674G>A ENST00000361835.3 - 9 1850 c.1693C>T c.(1693-1695)Cgc>Tgc p.R565C FCRL5_ENST00000368190.3_Missense_Mutation_p.R565C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R480C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R565C NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 565 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGGATGGGGCGAGACACTGGA 0.522000 21 69 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49448490 49448490 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:49448490T>C ENST00000374201.3 - 6 915 c.613A>G c.(613-615)Aga>Gga p.R205G FRMPD2_ENST00000305531.3_Missense_Mutation_p.R181G|FRMPD2_ENST00000407470.4_Missense_Mutation_p.R174G NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 205 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AGGTAGCTTCTGTTCTGCTGC 0.582000 4 36 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52359642 52359642 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:52359642G>A ENST00000356297.4 - 12 1547 c.1447C>T c.(1447-1449)Caa>Taa p.Q483* PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q483* NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 483 Ig-like C2-type 3. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TATTGGCCTTGATCGTGCTGT 0.468000 126 182 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49772339 49772339 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:49772339C>T ENST00000492622.2 + 22 3017 c.2712C>T c.(2710-2712)tcC>tcT p.S904S FNDC3A_ENST00000541916.1_Silent_p.S904S|FNDC3A_ENST00000398316.3_Silent_p.S848S NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 904 Fibronectin type-III 7. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ATAAACAATCCCTAACAGTGG 0.373000 36 81 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94159576 94159576 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:94159576C>T ENST00000282020.4 + 8 1438 c.1180C>T c.(1180-1182)Ccc>Tcc p.P394S GRID2_ENST00000510992.1_Missense_Mutation_p.P299S NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 394 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGGAGGCAATCCCAATGTCCA 0.403000 31 27 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569252 99569252 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:99569252C>T ENST00000331335.5 - 5 1738 c.1268G>A c.(1267-1269)aGa>aAa p.R423K FILIP1L_ENST00000383694.2_Missense_Mutation_p.R183K|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_5'UTR|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.R423K|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R183K NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 423 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 AGCCATAATTCTTTTACTGAG 0.363000 6 33 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61643878 61643878 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:61643878G>A ENST00000278829.2 - 9 1185 c.1033C>T c.(1033-1035)Ccc>Tcc p.P345S FADS3_ENST00000525588.1_Missense_Mutation_p.P317S|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.P221S NM_021727.3 NP_068373.1 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 345 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATCTCCTTGGGGATGTGGTTC 0.652000 24 88 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71472162 71472162 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:71472162C>T ENST00000322937.6 + 13 1162 c.1059C>T c.(1057-1059)ctC>ctT p.L353L AMBN_ENST00000449493.2_Silent_p.L338L NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 353 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) ACGCAGGGCTCCTTGCTCTCC 0.592000 12 15 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957469 35957469 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:35957469G>A ENST00000274278.3 - 5 1253 c.896C>T c.(895-897)gCc>gTc p.A299V UGT3A1_ENST00000503189.1_Missense_Mutation_p.A299V|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A265V NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 299 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAGCCAAAGGCCACAAGGAC 0.493000 33 10 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10940945 10940945 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:10940945C>T ENST00000314646.5 + 20 2598 c.2434C>T c.(2434-2436)Cgg>Tgg p.R812W DNM2_ENST00000585892.1_Missense_Mutation_p.R812W|DNM2_ENST00000389253.4_Missense_Mutation_p.R812W|DNM2_ENST00000359692.6_Missense_Mutation_p.R808W|DNM2_ENST00000355667.6_Missense_Mutation_p.R812W|DNM2_ENST00000408974.4_Missense_Mutation_p.R808W P50570 DYN2_HUMAN dynamin 2 812 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding p.R808R(1)|p.R812R(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AATCCCATCCCGGCCTGGACC 0.697000 """F, N, Splice, Mis, O""" ETP ALL 68 132 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262110 39262110 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:39262110C>T ENST00000391415.1 + 1 527 c.470C>T c.(469-471)tCc>tTc p.S157F NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 157 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 tgcagcatctccagctgctgc 0.657000 12 5 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5238831 5238831 + Translation_Start_Site SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:5238831A>G ENST00000380448.1 + 3 254 c.1A>G c.(1-3)Atg>Gtg p.M1V AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Start_Codon_SNP_p.M1V P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 1 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) GTGGCAAGCAATGGATCCCAA 0.443000 40 58 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180756945 180756945 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:180756945C>T ENST00000367590.4 + 3 376 c.178C>T c.(178-180)Caa>Taa p.Q60* XPR1_ENST00000367589.3_Nonsense_Mutation_p.Q60* NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 60 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GAAGTTTTTCCAAACCTGTGA 0.343000 55 44 0 0 1 0 0 PAFAH2 5051 broad.mit.edu 37 1 26301045 26301045 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:26301045G>A ENST00000374282.3 - 9 1034 c.855C>T c.(853-855)ttC>ttT p.F285F PAFAH2_ENST00000374284.1_Silent_p.F285F NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet-activating factor acetylhydrolase 2, 40kDa 285 lipid catabolic process cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 9 Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649) CCATTGTCTGGAATTTCTCAG 0.473000 15 39 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37626042 37626042 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:37626042A>T ENST00000434837.2 - 3 1539 c.361T>A c.(361-363)Tcc>Acc p.S121T MDGA1_ENST00000505425.1_Missense_Mutation_p.S121T|MDGA1_ENST00000297153.7_Missense_Mutation_p.S121T NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 121 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACGCGGATGGACTTGATGGCC 0.682000 11 9 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7244123 7244123 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7244123C>T ENST00000542285.1 - 2 302 c.153G>A c.(151-153)acG>acA p.T51T P00736 C1R_HUMAN complement component 1, r subcomponent 52 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCTGTATCCCGTGGGGACTG 0.532000 4 8 0 0 1 0 0 MIR513A2 574510 broad.mit.edu 37 X 146307386 146307386 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:146307386G>A ENST00000385249.1 - 0 84 NR_030232.1 acccttctcagaaaggtgaaa 0.478000 25 2 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6661492 6661492 + Silent SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:6661492T>A ENST00000299441.3 - 2 1764 c.1353A>T c.(1351-1353)ccA>ccT p.P451P NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 451 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGCCCGCAGTGGAGGTGAGC 0.592000 6 10 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50351074 50351074 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:50351074A>T ENST00000376020.2 - 6 3093 c.3068T>A c.(3067-3069)cTc>cAc p.L1023H SHROOM4_ENST00000460112.3_Missense_Mutation_p.L907H|SHROOM4_ENST00000289292.7_Missense_Mutation_p.L1023H NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1023 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GTCTCCAAGGAGGTCAAGAGA 0.502000 11 2 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686238 54686238 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:54686238C>T ENST00000540264.2 - 2 1551 c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K NFE2_ENST00000435572.2_Missense_Mutation_p.E348K|NFE2_ENST00000312156.4_Missense_Mutation_p.E348K|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.E348K Q16621 NFE2_HUMAN nuclear factor, erythroid 2 348 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 GCGTACTCTTCAGGAGAGTAG 0.602000 43 65 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41349035 41349035 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:41349035C>T ENST00000422280.1 + 16 2397 c.1938C>T c.(1936-1938)acC>acT p.T646T NBR1_ENST00000542611.1_Silent_p.T625T|NBR1_ENST00000341165.6_Silent_p.T646T|NBR1_ENST00000590996.1_Silent_p.T646T|NBR1_ENST00000589872.1_Silent_p.T646T|NBR1_ENST00000389312.4_Silent_p.T646T NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 646 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TGAGTGGGACCCAGTTTGTGT 0.493000 44 9 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332481 70332481 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:70332481G>A ENST00000338508.4 - 32 3919 c.3920C>T c.(3919-3921)tCc>tTc p.S1307F SHANK2_ENST00000449833.2_Missense_Mutation_p.S711F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S710F|SHANK2_ENST00000423696.2_Missense_Mutation_p.S927F Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 927 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTTCTGCTGGGACGTGTCCAT 0.597000 39 90 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101304234 101304234 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:101304234G>A ENST00000259455.2 - 3 1010 c.551C>T c.(550-552)cCa>cTa p.P184L GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 184 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CAGAATGGCTGGATTCACCGC 0.507000 3 56 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 107823126 107823126 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:107823126C>T ENST00000375915.2 - 3 1234 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 366 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AGAAAGGTTTCATAAAGCCCT 0.423000 10 43 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200869306 200869306 + Silent SNP C C T rs34596202 byFrequency TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:200869306C>T ENST00000367342.4 + 4 710 c.510C>T c.(508-510)atC>atT p.I170I C1orf106_ENST00000413687.2_Silent_p.I85I NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 170 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GCCGCAGGATCGGAGCGGCTT 0.607000 31 27 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923989 24923989 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:24923989G>A ENST00000329468.2 + 1 3449 c.2975G>A c.(2974-2976)gGa>gAa p.G992E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGGCACTGGAGACAGTACC 0.502000 33 2 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130417205 130417205 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:130417205G>A ENST00000370904.1 - 12 1584 c.674C>T c.(673-675)cCt>cTt p.P225L IGSF1_ENST00000370903.3_Missense_Mutation_p.P234L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P225L|IGSF1_ENST00000361420.3_Missense_Mutation_p.P234L Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 234 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GATGGGCCCAGGATGGGCTGT 0.478000 15 7 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649305 47649305 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:47649305C>T ENST00000398742.2 + 5 855 c.806C>T c.(805-807)tCt>tTt p.S269F GPR111_ENST00000296862.1_Missense_Mutation_p.S337F|GPR111_ENST00000507065.1_Missense_Mutation_p.S269F Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 337 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CCTTCCCCTTCTCAGGTCATC 0.413000 5 153 0 0 1 0 0 FGF10 2255 broad.mit.edu 37 5 44310583 44310583 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:44310583G>A ENST00000264664.4 - 2 489 c.375C>T c.(373-375)gcC>gcT p.A125A NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 125 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) TGCTGTTAATGGCTTTGACGG 0.353000 5 2 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164786915 164786915 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:164786915G>A ENST00000264382.3 - 4 386 c.324C>T c.(322-324)ttC>ttT p.F108F NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 108 P-type 1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GATTATCAACGAAGAAGCACC 0.358000 HNSCC(35;0.089) 39 42 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118881 194118881 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:194118881G>A ENST00000401815.1 - 1 202 c.131C>T c.(130-132)tCc>tTc p.S44F GP5_ENST00000323007.3_Missense_Mutation_p.S44F P40197 GPV_HUMAN glycoprotein V (platelet) 44 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GCCTAGCGCGGAGATGCGCGC 0.697000 24 71 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414001 48414001 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:48414001C>T ENST00000249598.1 - 2 1026 c.867G>A c.(865-867)aaG>aaA p.K289K NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 289 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TGGAGCCGTCCTTGGACAGCT 0.607000 13 26 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114778680 114778680 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:114778680G>A ENST00000334062.7 - 15 1571 c.1450C>T c.(1450-1452)Ctg>Ttg p.L484L RASA3_ENST00000389544.4_Silent_p.L452L NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 484 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AAGAACCTCAGGAAGATGAAG 0.617000 12 30 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730737 140730737 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140730737G>A ENST00000523390.1 + 1 910 c.910G>A c.(910-912)Gat>Aat p.D304N PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCACATTGGATTTTGAAGA 0.413000 85 7 0 0 1 0 0 GALNT10 55568 broad.mit.edu 37 5 153765888 153765888 + Silent SNP C C A rs146278879 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:153765888C>A ENST00000297107.6 + 7 1091 c.954C>A c.(952-954)gcC>gcA p.A318A GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Silent_p.A318A|GALNT10_ENST00000377661.2_Silent_p.A256A NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 318 Catalytic subdomain B. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) CCGTGATGGCCGGTGGACTGT 0.572000 164 19 2.6979e-105 2.79219e-105 1 1 0 LMBRD2 92255 broad.mit.edu 37 5 36143317 36143317 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:36143317G>A ENST00000296603.4 - 2 597 c.135C>T c.(133-135)tgC>tgT p.C45C NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 45 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CAATAAGAAAGCAGAGATACC 0.343000 25 6 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67214001 67214001 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:67214001G>A ENST00000290881.7 - 3 1439 c.513C>T c.(511-513)ccC>ccT p.P171P KIAA0895L_ENST00000563902.1_Silent_p.P171P|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Silent_p.P171P Q68EN5 K895L_HUMAN KIAA0895-like 171 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 CCGTGGGCATGGGCTCCTGGT 0.577000 53 33 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27875442 27875442 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:27875442G>T ENST00000374011.2 - 6 4153 c.3185C>A c.(3184-3186)aCa>aAa p.T1062K AHDC1_ENST00000247087.5_Missense_Mutation_p.T1062K|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1062 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) GGGCGAGACTGTGCTGGCCCG 0.677000 6 2 0.00116845 0.00117249 1 1 0 SV2B 9899 broad.mit.edu 37 15 91832897 91832897 + Missense_Mutation SNP C C T rs150512068 by1000genomes TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:91832897C>T ENST00000394232.1 + 12 2325 c.1855C>T c.(1855-1857)Ccc>Tcc p.P619S SV2B_ENST00000545111.2_Missense_Mutation_p.P468S|SV2B_ENST00000330276.4_Missense_Mutation_p.P619S NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 619 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GGAGCTGTATCCCACCAACCA 0.532000 18 7 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43218407 43218407 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:43218407G>A ENST00000263245.5 - 9 900 c.681C>T c.(679-681)gcC>gcT p.A227A ARFGAP3_ENST00000429508.2_Silent_p.A155A|ARFGAP3_ENST00000437119.2_Silent_p.A183A NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 227 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TTCCTTTTTTGGCCCCAAGCT 0.428000 59 68 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427432 71427432 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:71427432C>T ENST00000373657.1 - 3 1418 c.816G>A c.(814-816)atG>atA p.M272I PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.M395I Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 395 Helicase ATP-binding. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) AGCGCGTCTCCATTAGCAACT 0.413000 4 31 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6452425 6452425 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:6452425C>T ENST00000301454.4 - 8 1075 c.969G>A c.(967-969)agG>agA p.R323R SLC25A23_ENST00000414491.2_Intron|SLC25A23_ENST00000334510.5_Silent_p.R323R NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 323 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 CCAGGATACGCCTGGCGCAGT 0.652000 15 12 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118109231 118109231 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:118109231G>A ENST00000365713.2 + 1 651 c.488G>A c.(487-489)gGg>gAg p.G163E LONRF3_ENST00000304778.7_Missense_Mutation_p.G163E|LONRF3_ENST00000371628.3_Missense_Mutation_p.G163E Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 163 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 AAATGTCATGGGTTTCTATCA 0.672000 15 2 0 0 1 0 0 EPYC 1833 broad.mit.edu 37 12 91372011 91372011 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:91372011C>T ENST00000261172.3 - 3 286 c.194G>A c.(193-195)gGg>gAg p.G65E NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 65 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding p.G65E(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 CTCTCTGTTCCCTGAAGGCAT 0.483000 OREG0022019 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 10 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116823304 116823304 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:116823304C>T ENST00000265132.3 - 9 1190 c.928G>A c.(928-930)Ggg>Agg p.G310R NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 310 BPTI/Kunitz inhibitor 2. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) ACGCACTTCCCCTTGACAGCA 0.607000 16 29 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19662566 19662566 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:19662566G>A ENST00000328041.6 + 10 1029 c.832G>A c.(832-834)Gga>Aga p.G278R NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 278 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CATGGTCAACGGATTGGCCAA 0.498000 43 91 0 0 1 0 0 NR5A1 2516 broad.mit.edu 37 9 127262843 127262843 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:127262843G>A ENST00000373588.4 - 4 592 c.396C>T c.(394-396)ccC>ccT p.P132P NM_004959.4 NP_004950.2 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 132 cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 GTGCGGGAGGGGGCGGCGGGG 0.701000 10 28 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110460542 110460542 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:110460542C>T ENST00000378402.5 + 39 6051 c.5947C>T c.(5947-5949)Cat>Tat p.H1983Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1983 IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATGATGCATCATAAGACAAA 0.408000 HNSCC(38;0.096) 16 22 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637323 248637323 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:248637323C>T ENST00000359594.2 + 1 697 c.672C>T c.(670-672)acC>acT p.T224T NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTCATACACCCTCATCCTGC 0.562000 11 212 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103546243 103546243 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:103546243G>A ENST00000361464.3 - 16 3111 c.2716C>T c.(2716-2718)Cca>Tca p.P906S MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.P839S|MGEA5_ENST00000439817.1_Missense_Mutation_p.P853S NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 906 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) ACATCCTTTGGAAATCCTTCC 0.413000 31 39 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7168027 7168027 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:7168027G>A ENST00000341500.5 - 7 1601 c.1562C>T c.(1561-1563)cCc>cTc p.P521L INSR_ENST00000302850.5_Missense_Mutation_p.P521L NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 521 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAAGTCGGGGGGCCAGTACGG 0.478000 12 35 0 0 1 0 0 PRLH 51052 broad.mit.edu 37 2 238475737 238475737 + Silent SNP G G A rs145946342 byFrequency TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:238475737G>A ENST00000165524.1 + 2 183 c.183G>A c.(181-183)ggG>ggA p.G61G NM_015893.1 NP_056977.1 P81277 PRRP_HUMAN prolactin releasing hormone 61 extracellular region endometrium(1)|large_intestine(1) 2 Lung NSC(271;0.142)|all_lung(227;0.175) Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249) CAACCCTGGGGGACGTCCCCA 0.647000 18 37 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18608840 18608840 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:18608840C>T ENST00000377452.3 + 4 620 c.440C>T c.(439-441)tCg>tTg p.S147L DTD1_ENST00000494921.1_3'UTR NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 147 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 GAGCTGGAATCGCCAGCTCCC 0.537000 37 54 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173060 126173060 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:126173060G>A ENST00000339582.2 - 9 3184 c.2376C>T c.(2374-2376)atC>atT p.I792I GRM8_ENST00000444921.2_Silent_p.I792I|GRM8_ENST00000358373.3_Silent_p.I792I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 792 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTAACCAAATGATGCAGGTGG 0.398000 HNSCC(24;0.065) 34 35 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31890830 31890830 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:31890830G>A ENST00000253354.1 + 11 1251 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 364 extracellular space lipid binding GATCGTGCTGGAAGTGTTTCC 0.537000 49 143 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366836 248366836 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:248366836G>A ENST00000456743.1 + 1 505 c.467G>A c.(466-468)gGa>gAa p.G156E NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCTACGGATGGAATTATTGAT 0.463000 68 65 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47977514 47977514 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:47977514C>T ENST00000318711.7 + 31 3832 c.3649C>T c.(3649-3651)Caa>Taa p.Q1217* DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q1212*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.Q1216* NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1216 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTCGGGACACCAATCAGTGCT 0.637000 25 67 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944839 117944839 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:117944839C>T ENST00000356554.3 + 2 1069 c.334C>T c.(334-336)Cga>Tga p.R112* MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 112 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AAATAAAATTCGAGCTGATCA 0.348000 20 28 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41064601 41064601 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:41064601C>T ENST00000399564.4 - 5 883 c.433G>A c.(433-435)Gaa>Aaa p.E145K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTCATCCTTTCATCCTCGGCC 0.463000 22 6 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43585697 43585697 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:43585697C>T ENST00000452443.2 - 2 147 c.143G>A c.(142-144)aGc>aAc p.S48N NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 48 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GAAGGGTCGGCTGAAGCTCAG 0.622000 108 13 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912691 150912691 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:150912691G>A ENST00000329903.4 + 6 1749 c.1716G>A c.(1714-1716)gaG>gaA p.E572E NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 572 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TCCTAGAAGAGAGGGGTCGGG 0.537000 59 9 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20943058 20943058 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:20943058C>T ENST00000361505.5 + 4 558 c.412C>T c.(412-414)Cta>Tta p.L138L RP11-203M5.8_ENST00000554678.1_lincRNA NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 138 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) CCATATCAACCTACCTGGTTT 0.483000 46 4 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33698422 33698422 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:33698422C>T ENST00000253193.7 + 7 2456 c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 752 Poly-Pro. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) CAGGAACCCCCCGCCCCCCTG 0.697000 6 5 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732064 30732064 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:30732064C>T ENST00000262518.4 + 20 3403 c.3018C>T c.(3016-3018)ggC>ggT p.G1006G SRCAP_ENST00000395059.2_Silent_p.G1006G|SRCAP_ENST00000344771.4_Silent_p.G1006G NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1006 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGCAAGAAGGCCGGACAGTGG 0.567000 50 107 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761880 92761880 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:92761880C>T ENST00000318238.4 - 5 4621 c.3405G>A c.(3403-3405)ttG>ttA p.L1135L SAMD9L_ENST00000411955.1_Silent_p.L1135L|SAMD9L_ENST00000437805.1_Silent_p.L1135L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1135 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGTTCCCATCCAACCACCATT 0.418000 22 32 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21087380 21087380 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:21087380G>A ENST00000255882.6 - 36 4253 c.4167C>T c.(4165-4167)ccC>ccT p.P1389P PI4KA_ENST00000572273.1_Silent_p.P1331P|PI4KA_ENST00000414196.3_Silent_p.P141P NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1331 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGAACTTTGGGGGACAGCTTC 0.488000 35 72 0 0 1 0 0 TUB 7275 broad.mit.edu 37 11 8060559 8060559 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:8060559G>A ENST00000305253.4 + 1 380 c.139G>A c.(139-141)Ggc>Agc p.G47S RP11-236J17.6_ENST00000526646.1_RNA|RP11-236J17.6_ENST00000528151.1_RNA|TUB_ENST00000534099.1_Intron NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 0 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CCTGAAACGGGGCCACCGAAG 0.572000 19 8 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7749422 7749422 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:7749422G>A ENST00000254846.5 + 6 652 c.263G>A c.(262-264)gGg>gAg p.G88E KDM6B_ENST00000448097.2_Missense_Mutation_p.G88E NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 88 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CCCCTCCATGGGAAGCTGGAA 0.632000 23 6 0 0 1 0 0 NKX2-5 1482 broad.mit.edu 37 5 172659724 172659724 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:172659724G>A ENST00000329198.4 - 2 1096 c.823C>T c.(823-825)Ccc>Tcc p.P275S NM_001166175.1|NM_001166176.1|NM_004387.3 NP_001159647.1|NP_001159648.1|NP_004378.1 P52952 NKX25_HUMAN NK2 homeobox 5 275 Ala/Pro-rich. P -> T (in ASD-AVCD). adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1) 12 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGCCCGGCGGGGTAAGCGGCA 0.677000 3 5 0 0 1 0 0 LRRC23 10233 broad.mit.edu 37 12 7015068 7015068 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7015068G>A ENST00000007969.8 + 3 406 c.186G>A c.(184-186)aaG>aaA p.K62K LRRC23_ENST00000443597.2_Silent_p.K62K|LRRC23_ENST00000433346.1_Silent_p.K62K|LRRC23_ENST00000436789.1_Silent_p.K62K|LRRC23_ENST00000449039.1_Intron|LRRC23_ENST00000429740.1_Silent_p.K62K|LRRC23_ENST00000323702.5_Silent_p.K62K NM_001135217.1|NM_201650.2 NP_001128689.1|NP_964013.1 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 62 NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 13 TGCTCTGTAAGACAGGCAATG 0.557000 35 51 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835108 12835108 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:12835108G>T ENST00000357726.4 + 1 125 c.98G>T c.(97-99)aGg>aTg p.R33M NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 33 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGCTGCCCAGGGAGCTCTTT 0.622000 48 53 2.69953e-25 2.77803e-25 1 1 0 OCRL 4952 broad.mit.edu 37 X 128674731 128674731 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:128674731G>A ENST00000371113.4 + 2 215 c.50G>A c.(49-51)gGt>gAt p.G17D OCRL_ENST00000357121.5_Missense_Mutation_p.G17D|OCRL_ENST00000486673.1_Intron NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 17 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 ACTGTCGAGGGTATGGAGATG 0.637000 51 11 0 0 1 0 0 CBX7 23492 broad.mit.edu 37 22 39530418 39530418 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:39530418G>A ENST00000216133.5 - 5 791 c.586C>T c.(586-588)Cct>Tct p.P196S CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.P103S NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 196 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex p.P196S(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) TCCTCTTCAGGGGGCTGCGCA 0.662000 6 17 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123452895 123452895 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:123452895G>A ENST00000360772.3 - 11 1326 c.948C>T c.(946-948)ccC>ccT p.P316P MYLK_ENST00000359169.1_Silent_p.P316P|MYLK_ENST00000346322.5_Silent_p.P316P|MYLK_ENST00000475616.1_Silent_p.P316P|MYLK_ENST00000360304.3_Silent_p.P316P Q15746 MYLK_HUMAN myosin light chain kinase 316 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACTCCCTTGGGGGCTGAGGCT 0.642000 14 51 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12978122 12978122 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:12978122G>A ENST00000273221.4 - 3 652 c.436C>T c.(436-438)Cgc>Tgc p.R146C IQSEC1_ENST00000473088.1_5'UTR NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 146 IQ. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGGTACTGGCGAAACGCCGTC 0.582000 3 4 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50103127 50103127 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:50103127C>T ENST00000418929.2 + 5 4289 c.4277C>T c.(4276-4278)cCc>cTc p.P1426L NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 605 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCCTTGGCCCCCGCGGCTGCA 0.667000 19 38 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42808345 42808345 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:42808345T>C ENST00000514985.1 - 2 367 c.111A>G c.(109-111)agA>agG p.R37R SEPP1_ENST00000506577.1_Silent_p.R37R|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Silent_p.R37R|SEPP1_ENST00000507920.1_Silent_p.R37R NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 37 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 GATCTTGATCTCTTATGCTCC 0.522000 10 32 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30732065 30732065 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:30732065C>T ENST00000262518.4 + 20 3404 c.3019C>T c.(3019-3021)Cgg>Tgg p.R1007W SRCAP_ENST00000395059.2_Missense_Mutation_p.R1007W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1007W NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1007 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.R1007W(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCAAGAAGGCCGGACAGTGGT 0.572000 53 109 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516937 192516937 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:192516937C>T ENST00000392452.2 - 2 1034 c.714G>A c.(712-714)gtG>gtA p.V238V NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 238 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TGAAAGATACCACAGGGACAA 0.478000 15 27 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53818111 53818111 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:53818111C>T ENST00000257863.4 + 2 169 c.89C>T c.(88-90)cCt>cTt p.P30L AMHR2_ENST00000550311.1_Missense_Mutation_p.P30L|AMHR2_ENST00000379791.3_Missense_Mutation_p.P30L NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 30 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) TTTGAGGCCCCTGGAGTGCGG 0.572000 22 22 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128135017 128135017 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:128135017C>T ENST00000368250.1 - 5 1030 c.532G>A c.(532-534)Gat>Aat p.D178N THEMIS_ENST00000368248.2_Missense_Mutation_p.D257N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D257N|THEMIS_ENST00000537166.1_Missense_Mutation_p.D222N Q8N1K5 THMS1_HUMAN thymocyte selection associated 257 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCGTAAGAATCAGTGATGTCT 0.353000 49 3 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53205048 53205048 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:53205048C>T ENST00000262593.5 + 3 551 c.201C>T c.(199-201)aaC>aaT p.N67N DOK5_ENST00000395939.1_5'UTR NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 67 PH. insulin receptor binding p.N67K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) ATGTGAAGAACGTAGCTCGAT 0.408000 26 109 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55597332 55597332 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:55597332C>T ENST00000201647.6 + 15 1565 c.1509C>T c.(1507-1509)gaC>gaT p.D503D EPS8L1_ENST00000586329.1_Silent_p.D517D|EPS8L1_ENST00000245618.5_Silent_p.D376D|EPS8L1_ENST00000588359.1_Silent_p.D189D|EPS8L1_ENST00000540810.1_Silent_p.D439D NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 503 SH3. cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGCAGCGGGACGTACTGGAGG 0.577000 12 21 0 0 1 0 0 POM121C 100101267 broad.mit.edu 37 7 75048688 75048688 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:75048688C>T ENST00000453279.2 - 14 3645 c.2781G>A c.(2779-2781)gcG>gcA p.A927A POM121C_ENST00000257665.5_Silent_p.A1169A NM_001099415.1 NP_001092885.1 A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 1169 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 CCACTCCAGGCGCAGGGGTGT 0.637000 19 36 0 0 1 0 0 ALDH7A1 501 broad.mit.edu 37 5 125887819 125887819 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:125887819C>T ENST00000409134.3 - 14 1430 c.1211G>A c.(1210-1212)cGc>cAc p.R404H ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R367H|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R340H NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 404 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity p.R376H(1) endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) ATTTCCAGGGCGATCCATAAC 0.398000 7 14 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155156591 155156591 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:155156591C>T ENST00000357232.3 - 25 7847 c.7848G>A c.(7846-7848)tgG>tgA p.W2616* NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2616 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTAAACTCAACCATTCCGGAG 0.488000 25 21 0 0 1 0 0 MORN5 254956 broad.mit.edu 37 9 124922255 124922255 + Nonsense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:124922255G>T ENST00000536616.1 + 1 42 c.4G>T c.(4-6)Gag>Tag p.E2* MORN5_ENST00000373764.3_Nonsense_Mutation_p.E2* Q5VZ52 MORN5_HUMAN MORN repeat containing 5 2 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 AGGCGCCATGGAGTACACAGG 0.488000 36 37 2.13384e-23 2.19433e-23 1 1 0 EIF3F 8665 broad.mit.edu 37 11 8008887 8008887 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:8008887C>T ENST00000537635.1 + 1 451 c.33C>T c.(31-33)ttC>ttT p.F11F EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000533626.1_5'UTR|EIF3F_ENST00000309828.4_5'UTR O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 0 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCGCCTCCTTCTTTCTCGACA 0.562000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 110 109 0 0 1 0 0 ZNF444 55311 broad.mit.edu 37 19 56671150 56671150 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:56671150C>T ENST00000337080.3 + 5 931 c.564C>T c.(562-564)tcC>tcT p.S188S ZNF444_ENST00000592949.1_Silent_p.S187S|ZNF444_ENST00000592171.1_3'UTR NM_001253792.1|NM_018337.3 NP_001240721.1|NP_060807.2 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 188 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) GCAAAACGTCCCTGAAACCAG 0.716000 8 8 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960841 143960841 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:143960841G>A ENST00000377675.3 - 2 301 c.295C>T c.(295-297)Ctg>Ttg p.L99L CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 80 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CAGCGCCACAGACCAGCACGT 0.632000 Familial Hyperaldosteronism type I 26 21 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79974728 79974728 + Silent SNP C C T rs138723012 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:79974728C>T ENST00000306729.7 + 15 1837 c.1740C>T c.(1738-1740)gcC>gcT p.A580A ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Silent_p.A486A|ASPSCR1_ENST00000580534.1_Silent_p.A434A NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 486 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CATCTGCGGCCGATGTGCTGG 0.657000 T TFE3 alveolar soft part sarcoma 11 32 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 196921404 196921404 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:196921404G>A ENST00000346964.2 - 5 564 c.375C>T c.(373-375)atC>atT p.I125I DLG1_ENST00000450955.1_Silent_p.I125I|DLG1_ENST00000419354.1_Silent_p.I125I|DLG1_ENST00000357674.4_Silent_p.I125I|DLG1_ENST00000422288.1_Silent_p.I125I|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Silent_p.I125I|DLG1_ENST00000448528.2_Silent_p.I125I|DLG1_ENST00000392382.2_Silent_p.I125I NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 125 actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CTTCATTTGTGATTTGTGGGG 0.368000 31 67 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813710 100813710 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:100813710C>T ENST00000323346.5 + 12 1856 c.1543C>T c.(1543-1545)Ctc>Ttc p.L515F SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.L465F NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 515 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity p.L515V(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 CCCAGAGAATCTCTCTGAGGA 0.468000 14 29 0 0 1 0 0 TMEM41A 90407 broad.mit.edu 37 3 185213024 185213024 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:185213024C>T ENST00000421852.1 - 3 448 c.353G>A c.(352-354)tGc>tAc p.C118Y TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 118 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CAGGTAGCAGCATGTGGCACC 0.517000 21 107 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 64033988 64033988 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:64033988C>T ENST00000371088.4 + 12 1751 c.1505C>T c.(1504-1506)cCa>cTa p.P502L EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 502 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 CAGGCATGTCCATTTGTCATT 0.313000 5 9 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648247 57648247 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:57648247G>A ENST00000269834.1 - 4 620 c.235C>T c.(235-237)Cgt>Tgt p.R79C NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTACCTGCACGGCCACTTCCC 0.522000 15 47 0 0 1 0 0 C1orf186 440712 broad.mit.edu 37 1 206240150 206240150 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:206240150G>A ENST00000331555.5 - 5 940 c.302C>T c.(301-303)tCg>tTg p.S101L NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 101 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) GGCAGGAGGCGAACTGCAGGA 0.512000 172 19 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19554303 19554303 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:19554303G>A ENST00000396212.2 + 9 2907 c.2471G>A c.(2470-2472)cGa>cAa p.R824Q CCP110_ENST00000396208.2_Missense_Mutation_p.R824Q|CCP110_ENST00000381396.5_Missense_Mutation_p.R824Q NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 824 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 AAGCAACTTCGACAAACTGTA 0.348000 16 24 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69934248 69934248 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:69934248C>T ENST00000358913.5 + 11 2887 c.2399C>T c.(2398-2400)tCc>tTc p.S800F MYPN_ENST00000540630.1_Missense_Mutation_p.S800F|MYPN_ENST00000354393.2_Missense_Mutation_p.S525F NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 800 Pro-rich. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TTCACATTTTCCATCCCCAGC 0.547000 22 28 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25913647 25913647 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:25913647G>A ENST00000360488.3 - 11 1604 c.1187C>T c.(1186-1188)tCc>tTc p.S396F SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000377850.3_Silent_p.F445F NM_005835.2 NP_005826.1 O00624 NPT3_HUMAN solute carrier family 17, member 2 0 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 CAGCAGACAGGAAAAAGACAT 0.453000 26 17 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973885 46973885 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:46973885G>A ENST00000313683.10 - 2 713 c.408C>T c.(406-408)tcC>tcT p.S136S PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.S136S NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 136 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) gctggttctgggacagggtgg 0.577000 34 60 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45843526 45843526 + Splice_Site SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:45843526A>G ENST00000397928.1 + 23 3906 c.e23-1 TRPM2_ENST00000397932.2_Splice_Site|TRPM2_ENST00000300482.5_Splice_Site|TRPM2_ENST00000300481.9_Splice_Site|TRPM2_ENST00000498430.1_Splice_Site NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTCCTCTTTCAGGGTTGACGC 0.652000 16 11 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7063813 7063813 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:7063813G>A ENST00000299481.4 + 4 902 c.556G>A c.(556-558)Gga>Aga p.G186R NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 186 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GGGAGCTGCTGGAGTTGGGAA 0.463000 42 37 0 0 1 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83349475 83349475 + Nonsense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:83349475C>A ENST00000295470.5 - 2 743 c.568G>T c.(568-570)Gga>Tga p.G190* HNRNPDL_ENST00000349655.4_Nonsense_Mutation_p.G71*|HNRNPDL_ENST00000602300.1_Nonsense_Mutation_p.G71*|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000502762.1_Nonsense_Mutation_p.G190* NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like AATCCAAATCCTCTTGATCTC 0.398000 8 155 0.000978159 0.000982221 1 1 0 PDE6B 5158 broad.mit.edu 37 4 654258 654258 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:654258G>A ENST00000255622.6 + 12 1513 c.1470G>A c.(1468-1470)aaG>aaA p.K490K PDE6B_ENST00000429163.2_Silent_p.K211K|PDE6B_ENST00000496514.1_Silent_p.K490K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 490 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TCCCACAGAAGGAGGAGCTGC 0.567000 9 44 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99883615 99883615 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:99883615G>A ENST00000327681.6 - 18 2954 c.2422C>T c.(2422-2424)Ctt>Ttt p.L808F USP45_ENST00000500704.2_Missense_Mutation_p.L808F|USP45_ENST00000539675.1_Missense_Mutation_p.L101F|USP45_ENST00000392738.2_Missense_Mutation_p.L488F|USP45_ENST00000369233.2_Missense_Mutation_p.L760F NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 808 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TCATAGAAAAGAAGGTAGGCT 0.368000 40 7 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11097627 11097627 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:11097627C>T ENST00000358026.2 + 5 1091 c.807C>T c.(805-807)ccC>ccT p.P269P SMARCA4_ENST00000590574.1_Silent_p.P269P|SMARCA4_ENST00000413806.3_Silent_p.P269P|SMARCA4_ENST00000541122.2_Silent_p.P269P|SMARCA4_ENST00000450717.3_Silent_p.P269P|SMARCA4_ENST00000429416.3_Silent_p.P269P|SMARCA4_ENST00000344626.4_Silent_p.P269P|SMARCA4_ENST00000589677.1_Silent_p.P269P|SMARCA4_ENST00000444061.3_Silent_p.P269P NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 269 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGGGCGTGCCCCCCGGGATGC 0.627000 """F, N, Mis""" NSCLC 35 38 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235973733 235973733 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:235973733G>A ENST00000389794.3 - 5 559 c.385C>T c.(385-387)Ctg>Ttg p.L129L LYST_ENST00000389793.2_Silent_p.L129L|LYST_ENST00000536965.1_Silent_p.L129L Q99698 LYST_HUMAN lysosomal trafficking regulator 129 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGACTAGACAGGGCACTTCCT 0.383000 39 26 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34854417 34854417 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:34854417C>T ENST00000420428.2 - 6 1053 c.657_splice c.e6-1 p.G220_splice CELF4_ENST00000334919.5_Splice_Site_p.G210_splice|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000603232.1_Splice_Site_p.G220_splice|CELF4_ENST00000361795.5_Splice_Site_p.G219_splice|CELF4_ENST00000591287.1_Splice_Site_p.G219_splice|CELF4_ENST00000588597.1_Splice_Site_p.G209_splice|CELF4_ENST00000412753.1_Splice_Site_p.G220_splice|CELF4_ENST00000601019.1_Splice_Site_p.G219_splice|CELF4_ENST00000591282.1_Splice_Site_p.G220_splice NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 220 RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 GACGAGGCTCCCTGCGGCCGG 0.711000 45 90 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32260813 32260813 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:32260813G>A ENST00000375015.4 - 26 1834 c.1634C>T c.(1633-1635)tCg>tTg p.S545L C6orf10_ENST00000527965.1_Missense_Mutation_p.S530L|C6orf10_ENST00000447241.2_Missense_Mutation_p.S546L|C6orf10_ENST00000375007.4_Missense_Mutation_p.S544L|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000533191.1_Missense_Mutation_p.S544L Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 546 Lys-rich. integral to membrane p.S546L(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 CGCCCTTTTCGAGCCTTTTGA 0.333000 18 32 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160969557 160969557 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:160969557G>A ENST00000447678.1 - 32 5228 c.5108C>T c.(5107-5109)cCt>cTt p.P1703L LPA_ENST00000316300.5_Missense_Mutation_p.P1703L NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4211 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GACAGTCGGAGGAGCGACCAC 0.537000 44 10 0 0 1 0 0 PHOSPHO2 493911 broad.mit.edu 37 2 170557707 170557707 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:170557707C>T ENST00000359744.3 + 4 614 c.226C>T c.(226-228)Cca>Tca p.P76S KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1 NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 76 metal ion binding|pyridoxal phosphatase activity breast(1)|large_intestine(1)|lung(6)|skin(2) 10 GCCTTTCACTCCAGGGATGGT 0.348000 6 44 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73023356 73023356 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:73023356C>T ENST00000264839.7 + 24 3658 c.3658C>T c.(3658-3660)Cgc>Tgc p.R1220C RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1163C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1194C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R691C|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1163C|RIMS1_ENST00000538414.1_Missense_Mutation_p.R177C|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1371C Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1371 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCAATCTGAGCGCCCCAGGGG 0.423000 5 11 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100497169 100497169 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:100497169G>A ENST00000471714.1 - 58 4374 c.4265C>T c.(4264-4266)cCt>cTt p.P1422L ABI3BP_ENST00000383691.4_Missense_Mutation_p.P674L|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P720L Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 720 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGGTGGTAAAGGTTTTCTTCG 0.458000 14 60 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180383312 180383312 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:180383312G>A ENST00000410066.1 - 5 1053 c.450C>T c.(448-450)ccC>ccT p.P150P ZNF385B_ENST00000409692.1_Silent_p.P48P|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.P74P|ZNF385B_ENST00000336917.5_Silent_p.P48P NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 150 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TCTTCTTTGGGGGAATGGATA 0.348000 53 14 0 0 1 0 0 NUBP1 4682 broad.mit.edu 37 16 10851795 10851795 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:10851795C>T ENST00000283027.5 + 7 536 c.517C>T c.(517-519)Cca>Tca p.P173S NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P162S NM_002484.2 NP_002475.2 P53384 NUBP1_HUMAN nucleotide binding protein 1 173 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding large_intestine(2)|lung(3)|ovary(1)|skin(4) 10 TGTGGACACCCCACCTGGGAC 0.562000 41 121 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50810880 50810880 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:50810880C>T ENST00000263046.4 + 8 1351 c.1185C>T c.(1183-1185)atC>atT p.I395I TFAP2B_ENST00000393655.3_Silent_p.I386I Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 386 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CCAGCCCCATCCTGGAGCCGG 0.637000 74 71 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196673492 196673492 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:196673492G>A ENST00000312428.6 - 53 10097 c.9997C>T c.(9997-9999)Cga>Tga p.R3333* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3333 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCATCTAATCGACATATTTCA 0.408000 56 17 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99462528 99462528 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:99462528G>A ENST00000376460.1 - 47 5228 c.5148C>T c.(5146-5148)ctC>ctT p.L1716L DOCK9_ENST00000339416.2_Silent_p.L1717L|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1717 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACTGCTCAAGGAGCTCCATCA 0.522000 73 68 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55971583 55971583 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:55971583C>T ENST00000389286.4 - 7 1081 c.1034G>A c.(1033-1035)cGa>cAa p.R345Q NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 345 Ig-like 4. multicellular organismal development integral to membrane p.R345Q(1) 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) ACACACAAATCGAGCAGTGCC 0.393000 36 10 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169572738 169572738 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:169572738C>T ENST00000316428.5 - 6 911 c.854G>A c.(853-855)aGg>aAg p.R285K LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.R229K|LRRC31_ENST00000523069.1_Missense_Mutation_p.R285K NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 285 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) ATCTAATTTCCTCAGCTCACC 0.458000 38 50 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871954 149871954 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:149871954G>A ENST00000369153.2 + 3 1006 c.342G>A c.(340-342)tgG>tgA p.W114* BOLA1_ENST00000369152.5_Nonsense_Mutation_p.W114*|BOLA1_ENST00000369150.1_Nonsense_Mutation_p.W114*|BOLA1_ENST00000476344.1_3'UTR Q9Y3E2 BOLA1_HUMAN bolA family member 1 114 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CCGCCCAGTGGAGAGAGAACT 0.657000 24 50 0 0 1 0 0 CSF3 1440 broad.mit.edu 37 17 38172816 38172816 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:38172816G>A ENST00000331769.2 + 3 586 c.370G>A c.(370-372)Gag>Aag p.E124K CSF3_ENST00000577675.1_Missense_Mutation_p.E88K|CSF3_ENST00000394149.3_Missense_Mutation_p.E128K|CSF3_ENST00000394148.3_Missense_Mutation_p.E95K|CSF3_ENST00000225474.2_Missense_Mutation_p.E131K P09919 CSF3_HUMAN colony stimulating factor 3 (granulocyte) 131 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GATCTCCCCCGAGTTGGGTCC 0.627000 129 24 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214245 11214245 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:11214245G>A ENST00000533467.1 - 1 648 c.649C>T c.(649-651)Caa>Taa p.Q217* PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 217 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CTGGGATCTTGAGATCCTTTG 0.408000 19 34 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38998082 38998082 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:38998082T>G ENST00000359357.3 + 91 13641 c.13387T>G c.(13387-13389)Ttc>Gtc p.F4463V DNAH8_ENST00000441566.1_Missense_Mutation_p.F4427V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGATTTGACCTTCATCACTGT 0.478000 41 84 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235969576 235969576 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:235969576G>A ENST00000389794.3 - 6 3034 c.2860C>T c.(2860-2862)Cct>Tct p.P954S LYST_ENST00000389793.2_Missense_Mutation_p.P954S|LYST_ENST00000536965.1_Missense_Mutation_p.P954S Q99698 LYST_HUMAN lysosomal trafficking regulator 954 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATATGTTCAGGAGAAGGCAAG 0.448000 17 74 0 0 1 0 0 LYPD4 147719 broad.mit.edu 37 19 42342965 42342965 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:42342965G>A ENST00000330743.3 - 3 1412 c.201C>T c.(199-201)ttC>ttT p.F67F LYPD4_ENST00000601246.1_Intron|LYPD4_ENST00000343055.4_Intron NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 67 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CTGTCTCAATGAACACTAGCG 0.488000 76 79 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997860 115997860 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:115997860G>A ENST00000264363.2 - 2 1011 c.333C>T c.(331-333)gcC>gcT p.A111A NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 111 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCTTTCCAGGGGCAATAACCA 0.403000 13 31 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902257 40902257 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:40902257G>A ENST00000324001.7 - 7 2272 c.2002C>T c.(2002-2004)Cct>Tct p.P668S PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 668 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCATTTTAGGGAGTTTCATC 0.572000 55 75 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45089808 45089808 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:45089808C>T ENST00000340648.4 + 2 291 c.174C>T c.(172-174)ctC>ctT p.L58L NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 58 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) GGAAGGGGCTCTTCTACTGCA 0.453000 36 51 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512515 4512515 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:4512515C>T ENST00000301286.3 - 3 1414 c.1415G>A c.(1414-1416)gGc>gAc p.G472D NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 472 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GTCCAGGCCGCCCTGGACGGC 0.597000 61 81 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13736177 13736177 + Silent SNP C C T rs146816221 byFrequency TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:13736177C>T ENST00000354817.3 + 9 1221 c.1077C>T c.(1075-1077)gcC>gcT p.A359A FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 359 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 GCCATAAGGCCCCAGCATTCC 0.443000 12 14 0 0 1 0 0 C8orf74 203076 broad.mit.edu 37 8 10557855 10557855 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:10557855G>A ENST00000304519.5 + 4 788 c.759G>A c.(757-759)caG>caA p.Q253Q RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 253 p.Q253H(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) TGAAGCTTCAGAAGAAGACTC 0.612000 29 76 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22363239 22363239 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:22363239C>T ENST00000263160.3 + 2 689 c.252C>T c.(250-252)tcC>tcT p.S84S NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 84 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TCTGCATCTCCTTCGGTATCC 0.632000 37 21 0 0 1 0 0 ZNF271P 10778 broad.mit.edu 37 18 32887558 32887558 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:32887558C>T ENST00000399070.3 + 0 1952 NR_024565.1|NR_024566.1 large_intestine(3)|lung(9) 12 TCTCATTAACCATCAAAAAAT 0.438000 16 12 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23929371 23929371 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:23929371G>A ENST00000382298.3 - 8 1968 c.1380C>T c.(1378-1380)ctC>ctT p.L460L SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.L460L NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 460 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTGAACTGGGAGGCCTGTGC 0.493000 18 26 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33282828 33282828 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:33282828G>A ENST00000373477.4 - 1 926 c.18C>T c.(16-18)agC>agT p.S6S NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 6 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TCTCTTCAGGGCTGGGAGCGT 0.652000 43 80 0 0 1 0 0 NUPR1 26471 broad.mit.edu 37 16 28549464 28549464 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:28549464C>T ENST00000324873.6 - 2 391 c.125G>A c.(124-126)cGg>cAg p.R42Q NUPR1_ENST00000395641.2_Missense_Mutation_p.R60Q NM_001042483.1|NM_012385.2 NP_001035948.1|NP_036517.1 O60356 NUPR1_HUMAN nuclear protein, transcriptional regulator, 1 42 cell growth|induction of apoptosis nucleus breast(1)|large_intestine(1)|lung(1) 3 GCGACCTTTCCGGCCTCCACC 0.602000 34 86 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952529 119952529 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:119952529G>A ENST00000307142.4 + 4 2795 c.2599G>A c.(2599-2601)Gga>Aga p.G867R SYNPO2_ENST00000434046.2_Missense_Mutation_p.G867R|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G867R|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 867 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGAGCTTCCAGGAATGAGTGG 0.527000 47 123 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838749 16838749 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:16838749G>A ENST00000355661.3 - 11 1474 c.1464C>T c.(1462-1464)ccC>ccT p.P488P PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.P488P|PLEKHA7_ENST00000448080.2_Silent_p.P488P Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 488 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GCAGGTTTCGGGGAGGTGGCG 0.637000 64 50 0 0 1 0 0 GHDC 84514 broad.mit.edu 37 17 40343158 40343158 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:40343158A>G ENST00000301671.8 - 5 1401 c.960T>C c.(958-960)ttT>ttC p.F320F GHDC_ENST00000414034.3_Silent_p.F320F|GHDC_ENST00000436923.2_Silent_p.F320F|GHDC_ENST00000428494.2_Silent_p.F281F|GHDC_ENST00000587427.1_Silent_p.F320F|GHDC_ENST00000593209.1_Silent_p.F320F Q8N2G8 GHDC_HUMAN GH3 domain containing 320 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) GCAGCTCGATAAAGGGGGCCC 0.627000 37 13 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 224008965 224008965 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:224008965G>A ENST00000343537.7 - 2 423 c.132C>T c.(130-132)ccC>ccT p.P44P TP53BP2_ENST00000391878.2_5'UTR NM_001031685.2 NP_001026855.2 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 38 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CACTCTCGCCGGGTTCTTTGC 0.468000 85 7 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37543573 37543573 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:37543573G>A ENST00000379066.1 - 2 857 c.95C>T c.(94-96)cCt>cTt p.P32L PRKD3_ENST00000234179.2_Missense_Mutation_p.P32L O94806 KPCD3_HUMAN protein kinase D3 32 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) TCCCGTCTTAGGACTTGAACA 0.498000 7 61 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7614987 7614987 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:7614987C>T ENST00000221249.6 + 17 2117 c.1686C>T c.(1684-1686)tcC>tcT p.S562S PNPLA6_ENST00000450331.3_Silent_p.S562S|PNPLA6_ENST00000414982.3_Silent_p.S610S|PNPLA6_ENST00000545201.2_Silent_p.S536S|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Silent_p.S601S NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 601 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TCTCCAAGTCCGACTTCTATG 0.622000 49 73 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780706 94780706 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:94780706C>T ENST00000341584.3 - 2 426 c.280G>A c.(280-282)Ggt>Agt p.G94S NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 94 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) AGGTTGAAACCCAGGCCCTGG 0.537000 7 13 0 0 1 0 0 TNMD 64102 broad.mit.edu 37 X 99849315 99849315 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:99849315A>G ENST00000373031.4 + 4 596 c.379A>G c.(379-381)Aaa>Gaa p.K127E TNMD_ENST00000485971.1_3'UTR NM_022144.2 NP_071427.2 Q9H2S6 TNMD_HUMAN tenomodulin 127 BRICHOS. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 AACTCAGATTAAAGTGATTCC 0.353000 20 3 0 0 1 0 0 KIF22 3835 broad.mit.edu 37 16 29816329 29816329 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:29816329C>A ENST00000561482.1 + 12 2305 c.1668C>A c.(1666-1668)ctC>ctA p.L556L KIF22_ENST00000160827.4_Silent_p.L624L|KIF22_ENST00000569382.2_Silent_p.L570L|KIF22_ENST00000400751.5_Silent_p.L556L NM_001256270.1 NP_001243199.1 Q14807 KIF22_HUMAN kinesin family member 22 624 blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding endometrium(1)|large_intestine(1)|lung(11)|skin(1) 14 GGCGGGAGCTCCACGGCCCCT 0.657000 17 49 3.99206e-14 4.08784e-14 1 1 0 FKBP5 2289 broad.mit.edu 37 6 35547904 35547904 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:35547904G>A ENST00000536438.1 - 10 1250 c.935C>T c.(934-936)tCt>tTt p.S312F FKBP5_ENST00000357266.4_Missense_Mutation_p.S312F|FKBP5_ENST00000540787.1_Missense_Mutation_p.S133F|FKBP5_ENST00000539068.1_Missense_Mutation_p.S312F NM_001145775.1 NP_001139247.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 312 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 AAATGATTCAGAAGCTTTCGA 0.443000 82 47 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79420961 79420961 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:79420961A>C ENST00000264895.6 + 61 9642 c.9202A>C c.(9202-9204)Atc>Ctc p.I3068L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3063 Calx-beta 5. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CATCAAGGTGATCCGCAGAGG 0.547000 76 52 0 0 1 0 0 CDK9 1025 broad.mit.edu 37 9 130551705 130551705 + Silent SNP C C T rs142704308 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:130551705C>T ENST00000373265.2 + 7 1353 c.1353C>T c.(1351-1353)tcC>tcT p.S451S CDK9_ENST00000373264.4_Silent_p.S334S P50750 CDK9_HUMAN cyclin-dependent kinase 9 334 cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 ACCTGACGTCCATGTTCGAGT 0.632000 72 109 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57966029 57966029 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:57966029G>A ENST00000455537.2 + 14 1822 c.1548G>A c.(1546-1548)gtG>gtA p.V516V KIF5A_ENST00000286452.5_Silent_p.V427V NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 516 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGCTTCTGGTGGATGAGCTGT 0.567000 7 3 0 0 1 0 0 TRIM62 55223 broad.mit.edu 37 1 33613051 33613051 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:33613051G>A ENST00000291416.5 - 5 1388 c.1155C>T c.(1153-1155)ggC>ggT p.G385G TRIM62_ENST00000543586.1_Silent_p.G264G NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 385 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) TGCAGTAGAAGCCGCGGCTGG 0.637000 27 23 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39811541 39811541 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:39811541C>T ENST00000216160.6 + 3 269 c.207C>T c.(205-207)aaC>aaT p.N69N TAB1_ENST00000331454.3_Silent_p.N69N NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 69 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GGGTCTTCAACGGCTATGATG 0.622000 19 136 0 0 1 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32917094 32917094 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:32917094G>A ENST00000374843.4 - 4 820 c.735C>T c.(733-735)atC>atT p.I245I HLA-DMA_ENST00000395305.3_Silent_p.I150I|HLA-DMA_ENST00000395303.3_Silent_p.I211I|HLA-DMA_ENST00000464392.1_5'UTR|XXbac-BPG181M17.5_ENST00000429234.1_Intron NM_006120.3 NP_006111.2 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM alpha 245 integral to membrane|MHC class II protein complex kidney(1)|large_intestine(2)|lung(8) 11 CAATGCCCACGATGATGCCCA 0.587000 49 50 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42794645 42794645 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:42794645C>T ENST00000572681.2 + 11 4520 c.4452C>T c.(4450-4452)ccC>ccT p.P1484P CIC_ENST00000575354.2_Silent_p.P575P|CIC_ENST00000160740.3_Silent_p.P575P Q96RK0 CIC_HUMAN capicua transcriptional repressor 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGCCCCCACCCCCTGGGGCTG 0.677000 """Mis, F, S""" oligodendroglioma 24 34 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648248 57648248 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:57648248G>A ENST00000269834.1 - 4 619 c.234C>T c.(232-234)ggC>ggT p.G78G NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TACCTGCACGGCCACTTCCCA 0.527000 15 48 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75315533 75315533 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:75315533G>A ENST00000297784.5 + 8 876 c.336G>A c.(334-336)aaG>aaA p.K112K TMC1_ENST00000396237.3_Silent_p.K112K|TMC1_ENST00000340019.3_Silent_p.K112K NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 112 Arg/Asp/Glu/Lys-rich (highly charged). sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 AACCATGGAAGATGGAGAAGA 0.333000 16 16 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109306379 109306379 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:109306379G>A ENST00000299134.5 - 14 1382 c.1383C>T c.(1381-1383)gcC>gcT p.A461A NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 ACCATCTCCTGGCCCCACTCC 0.612000 99 164 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19318162 19318162 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:19318162G>A ENST00000461366.1 + 10 1303 c.1088G>A c.(1087-1089)gGg>gAg p.G363E NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 363 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CCTGCCCCAGGGAGGCGGCGG 0.632000 27 4 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52252198 52252198 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:52252198C>T ENST00000356297.4 - 21 4232 c.4132G>A c.(4132-4134)Gca>Aca p.A1378T PXDNL_ENST00000543296.1_Intron NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1378 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCTCTGAGTGCTGTGATGGTT 0.388000 37 40 0 0 1 0 0 ZDHHC8P1 150244 broad.mit.edu 37 22 23742681 23742681 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:23742681C>T ENST00000255890.4 - 0 528 CCCCCGGGCCCATAGTCAGGG 0.622000 11 7 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52149516 52149516 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:52149516C>T ENST00000222107.4 - 2 553 c.415G>A c.(415-417)Gtg>Atg p.V139M SIGLEC5_ENST00000599649.1_Missense_Mutation_p.V139M|SIGLEC14_ENST00000360844.6_Missense_Mutation_p.V139M|SIGLEC5_ENST00000429354.3_Intron O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 139 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) ATACCTGTCACCTCCAAGTTC 0.557000 42 66 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100211643 100211643 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:100211643C>T ENST00000376387.4 + 16 1969 c.1779C>T c.(1777-1779)ttC>ttT p.F593F NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 593 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GGCGTTCATTCCTTACGAGTG 0.353000 5 52 0 0 1 0 0 CYP2C8 1558 broad.mit.edu 37 10 96827385 96827385 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:96827385G>A ENST00000371270.3 - 2 326 c.232C>T c.(232-234)Cat>Tat p.H78Y CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 78 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TCATATCCATGAAACACCACT 0.418000 20 21 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48137379 48137379 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:48137379C>T ENST00000405493.2 - 18 1842 c.1633G>A c.(1633-1635)Gca>Aca p.A545T RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A587T|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A587T|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A545T|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A545T NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 545 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GCCAACGCTGCCATCACCTCT 0.607000 30 40 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277838 152277838 + Missense_Mutation SNP G G A rs139489857 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:152277838G>A ENST00000368799.1 - 3 9559 c.9524C>T c.(9523-9525)tCc>tTc p.S3175F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3175 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTGCCTGGAGCTGTCTCC 0.552000 Ichthyosis 330 247 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61288114 61288114 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:61288114A>G ENST00000217159.1 + 2 513 c.308A>G c.(307-309)aAg>aGg p.K103R SLCO4A1_ENST00000370507.1_Missense_Mutation_p.K103R NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 103 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) AACACGCCCAAGGGCATCCTG 0.652000 31 48 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169574228 169574228 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:169574228A>G ENST00000316428.5 - 5 776 c.719T>C c.(718-720)gTt>gCt p.V240A LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.V184A|LRRC31_ENST00000523069.1_Missense_Mutation_p.V240A NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 240 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CAGACTGCCAACAATGTCTCT 0.378000 19 103 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7409679 7409679 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:7409679A>G ENST00000361972.4 - 4 458 c.368T>C c.(367-369)gTa>gCa p.V123A SFMBT2_ENST00000397167.1_Missense_Mutation_p.V123A|SFMBT2_ENST00000397160.3_Missense_Mutation_p.V123A|SFMBT2_ENST00000379711.2_Missense_Mutation_p.V123A|SFMBT2_ENST00000379713.3_Missense_Mutation_p.V123A NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 123 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 CGCGATGACTACGTCACACCA 0.602000 10 35 0 0 1 0 0 ZNF259 8882 broad.mit.edu 37 11 116656545 116656545 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:116656545C>T ENST00000227322.3 - 5 608 c.549G>A c.(547-549)aaG>aaA p.K183K NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 183 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) GCTTTAGCTCCTTCAGTTTGA 0.468000 20 21 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987604 61987604 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:61987604G>A ENST00000409186.1 - 5 2733 c.628C>T c.(628-630)Cct>Tct p.P210S PCDH20_ENST00000409204.4_Missense_Mutation_p.P210S Q8N6Y1 PCD20_HUMAN protocadherin 20 183 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGGGAAACAGGGAACTGCGGG 0.522000 84 70 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11227604 11227604 + Missense_Mutation SNP G G A rs137929307 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:11227604G>A ENST00000558518.1 + 12 1962 c.1775G>A c.(1774-1776)gGg>gAg p.G592E LDLR_ENST00000545707.1_Missense_Mutation_p.G465E|LDLR_ENST00000557933.1_Missense_Mutation_p.G592E|LDLR_ENST00000535915.1_Missense_Mutation_p.G551E|LDLR_ENST00000455727.2_Missense_Mutation_p.G424E|LDLR_ENST00000558013.1_Missense_Mutation_p.G592E NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 592 G -> E (in FH; Sicily). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GATGTCAACGGGGGCAACCGG 0.537000 79 128 0 0 1 0 0 RNF219 79596 broad.mit.edu 37 13 79191252 79191252 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:79191252C>A ENST00000282003.6 - 6 702 c.644G>T c.(643-645)gGa>gTa p.G215V RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 215 zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TGCAAACCTTCCAAACCTACA 0.393000 27 19 2.2171e-23 2.27834e-23 1 1 0 ASB5 140458 broad.mit.edu 37 4 177143511 177143511 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:177143511C>T ENST00000296525.3 - 3 450 c.337G>A c.(337-339)Gga>Aga p.G113R ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.G60R NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 113 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ACGTGATCTCCAAGGCAGGCT 0.423000 65 40 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117715387 117715387 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:117715387A>T ENST00000368508.3 - 10 1300 c.1102T>A c.(1102-1104)Tta>Ata p.L368I ROS1_ENST00000368507.3_Missense_Mutation_p.L377I|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 368 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GAAGAAATTAATCCTGAACCT 0.373000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 19 5 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11240222 11240222 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:11240222T>A ENST00000558518.1 + 17 2610 c.2423T>A c.(2422-2424)cTt>cAt p.L808H LDLR_ENST00000545707.1_Missense_Mutation_p.L630H|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000557933.1_Missense_Mutation_p.F829I|LDLR_ENST00000535915.1_Missense_Mutation_p.L767H|LDLR_ENST00000455727.2_Missense_Mutation_p.L640H|LDLR_ENST00000558013.1_Missense_Mutation_p.L808H NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 808 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GGGGTCTTCCTTCTATGGAAG 0.552000 47 37 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74483560 74483560 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:74483560G>A ENST00000323940.5 - 10 1058 c.813C>T c.(811-813)ttC>ttT p.F271F STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.F310F|STRA6_ENST00000395105.4_Silent_p.F271F|STRA6_ENST00000449139.2_Silent_p.F271F|STRA6_ENST00000535552.1_Silent_p.F308F|STRA6_ENST00000423167.2_Silent_p.F262F|STRA6_ENST00000574278.1_Silent_p.F286F|STRA6_ENST00000416286.3_Silent_p.F263F NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 271 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 CCCAGGACAGGAAGCCATGCT 0.637000 33 7 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6554674 6554674 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:6554674G>A ENST00000321612.6 - 19 2460 c.2310C>T c.(2308-2310)atC>atT p.I770I NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 770 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTTACACTCCGATGGGCCCCA 0.527000 11 1 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152749155 152749155 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:152749155C>T ENST00000334371.2 + 1 308 c.308C>T c.(307-309)tCc>tTc p.S103F NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 103 keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCAGCGGGCTCCAGCTGCTGC 0.642000 36 41 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159755 152159755 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:152159755G>A ENST00000439251.1 - 2 826 c.388C>T c.(388-390)Cct>Tct p.P130S PNMA5_ENST00000535214.1_Missense_Mutation_p.P130S|PNMA5_ENST00000452693.1_Missense_Mutation_p.P130S|PNMA5_ENST00000361887.5_Missense_Mutation_p.P130S NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 130 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ctctcggcagggaggctgcaa 0.502000 111 11 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985056 140985056 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:140985056C>T ENST00000298296.1 + 7 1512 c.1512C>T c.(1510-1512)ttC>ttT p.F504F MAGEC3_ENST00000544766.1_Silent_p.F206F|MAGEC3_ENST00000536088.1_Silent_p.F206F|MAGEC3_ENST00000443323.2_Silent_p.F126F|MAGEC3_ENST00000409007.1_Silent_p.F206F NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 504 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCCATGAGTTCATAGAGCTAA 0.443000 60 10 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31643289 31643289 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:31643289A>G ENST00000375494.3 + 1 60 c.60A>G c.(58-60)ccA>ccG p.P20P NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 20 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding TGGCGACTCCATGCCAGGAGC 0.617000 11 97 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7293967 7293967 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7293967G>A ENST00000537408.1 + 8 2027 c.1489G>A c.(1489-1491)Gag>Aag p.E497K CLSTN3_ENST00000266546.6_Missense_Mutation_p.E485K Q9BQT9 CSTN3_HUMAN calsyntenin 3 485 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACCCCGAAGGGAGCCTGCTCT 0.567000 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 99 100 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861097 52861097 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:52861097A>C ENST00000343457.3 - 4 2097 c.2091T>G c.(2089-2091)tgT>tgG p.C697W NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 697 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TCTCCAACTCACAGCAAGTGT 0.522000 26 71 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 24927579 24927579 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:24927579T>G ENST00000533227.1 + 6 468 c.181T>G c.(181-183)Tgt>Ggt p.C61G LUZP2_ENST00000336930.6_Missense_Mutation_p.C147G NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 147 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 AAACAAGCTCTGTGGCATTCA 0.328000 22 21 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11007825 11007825 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:11007825G>A ENST00000377004.4 - 12 2366 c.2367C>T c.(2365-2367)ctC>ctT p.L789L C1orf127_ENST00000377008.4_Silent_p.L622L NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 640 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) GCTCCTGCTGGAGTGAGGCCC 0.627000 8 20 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52756677 52756677 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:52756677G>A ENST00000257901.3 - 6 1113 c.1038C>T c.(1036-1038)atC>atT p.I346I KRT85_ENST00000544265.1_Silent_p.I134I NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 346 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCAGCCTCTGGATCATGCGGT 0.587000 47 77 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72301249 72301249 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:72301249G>A ENST00000263563.6 + 17 2348 c.2080G>A c.(2080-2082)Gtg>Atg p.V694M NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 GGAGGAGCTCGTGAGTGTGCC 0.627000 9 22 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33733715 33733715 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:33733715G>A ENST00000354992.2 - 11 1775 c.1204C>T c.(1204-1206)Ctg>Ttg p.L402L LARGE_ENST00000452586.2_Silent_p.L201L|LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Silent_p.L402L|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000437602.2_Silent_p.L402L NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 402 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) AGGAAGGTCAGGTAGAGGTTG 0.532000 48 55 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860285 16860285 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:16860285C>T ENST00000524140.2 + 6 1250 c.832C>T c.(832-834)Ctc>Ttc p.L278F NWD1_ENST00000552788.1_Missense_Mutation_p.L278F|NWD1_ENST00000549814.1_Missense_Mutation_p.L278F|NWD1_ENST00000379808.3_Missense_Mutation_p.L278F|NWD1_ENST00000339803.6_Missense_Mutation_p.L143F|NWD1_ENST00000523826.1_Missense_Mutation_p.L72F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 278 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCACCAGGTCCTCACACGCCT 0.607000 14 29 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7491976 7491976 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:7491976C>T ENST00000399429.3 - 18 1623 c.1483G>A c.(1483-1485)Gtg>Atg p.V495M NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 495 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCAATTCCCACTGGTCCTCGA 0.398000 59 46 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145003384 145003384 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:145003384C>T ENST00000322810.4 - 25 3727 c.3558G>A c.(3556-3558)aaG>aaA p.K1186K PLEC_ENST00000398774.2_Silent_p.K1017K|PLEC_ENST00000354589.3_Silent_p.K1049K|PLEC_ENST00000356346.3_Silent_p.K1035K|PLEC_ENST00000527096.1_Silent_p.K1072K|PLEC_ENST00000345136.3_Silent_p.K1049K|PLEC_ENST00000354958.2_Silent_p.K1027K|PLEC_ENST00000436759.2_Silent_p.K1076K|PLEC_ENST00000357649.2_Silent_p.K1053K NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1186 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGGCCAAGACCTTCTCGGCCT 0.682000 4 14 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160146383 160146383 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:160146383G>A ENST00000368081.4 + 17 3052 c.2581G>A c.(2581-2583)Gga>Aga p.G861R ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 861 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATGGCCTATGGACAGATTGG 0.542000 10 34 0 0 1 0 0 C7orf43 55262 broad.mit.edu 37 7 99755311 99755311 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:99755311C>T ENST00000316937.3 - 3 767 c.582G>A c.(580-582)caG>caA p.Q194Q C7orf43_ENST00000419841.1_5'UTR|C7orf43_ENST00000457641.1_5'UTR NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 194 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGATCGGGTCTGCAGCAATC 0.577000 OREG0018198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 227 0 0 1 0 0 GM2A 2760 broad.mit.edu 37 5 150646406 150646406 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:150646406C>T ENST00000357164.3 + 3 683 c.358C>T c.(358-360)Cct>Tct p.P120S NM_000405.4|NM_001167607.1 NP_000396.2|NP_001161079.1 P17900 SAP3_HUMAN GM2 ganglioside activator 120 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATGTTAATTCCTACTGGGGA 0.532000 60 15 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13762910 13762910 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:13762910C>T ENST00000265104.4 - 60 10306 c.10202G>A c.(10201-10203)gGa>gAa p.G3401E DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3401 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGCTACATTTCCACATACGCG 0.408000 Kartagener syndrome 5 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9013857 9013857 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9013857G>A ENST00000397910.4 - 33 38736 c.38533C>T c.(38533-38535)Ccc>Tcc p.P12845S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12847 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTAGGGCTGGGGAGGGAGGAT 0.478000 14 20 0 0 1 0 0 OR2B11 127623 broad.mit.edu 37 1 247614950 247614950 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:247614950C>T ENST00000318749.6 - 1 358 c.335G>A c.(334-336)gGa>gAa p.G112E NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTCCGTGCATCCCAGCCAGTG 0.592000 43 33 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66943216 66943216 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:66943216C>T ENST00000299752.4 - 17 2539 c.2346G>A c.(2344-2346)acG>acA p.T782T CDH16_ENST00000565796.1_Silent_p.T743T|CDH16_ENST00000568632.1_Silent_p.T685T|CDH16_ENST00000570262.1_Silent_p.T702T|CDH16_ENST00000394055.3_Silent_p.T760T NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 782 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCGACAGCTTCGTGGGCATGC 0.617000 45 33 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110259984 110259984 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:110259984T>C ENST00000369812.5 + 8 721 c.650T>C c.(649-651)aTg>aCg p.M217T GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369813.1_3'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.M198T P46439 GSTM5_HUMAN glutathione S-transferase mu 5 198 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TCTGCCTACATGAAGTCCAGC 0.542000 5 168 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651689 7651689 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7651689C>T ENST00000359156.4 - 4 755 c.553G>A c.(553-555)Gat>Aat p.D185N CD163_ENST00000541972.1_Missense_Mutation_p.D173N|CD163_ENST00000396620.3_Missense_Mutation_p.D185N|CD163_ENST00000432237.2_Missense_Mutation_p.D185N NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 185 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AAGTTATCATCACACACTGTT 0.428000 55 130 0 0 1 0 0 ADTRP 84830 broad.mit.edu 37 6 11735908 11735908 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:11735908G>A ENST00000414691.3 - 4 809 c.399C>T c.(397-399)ttC>ttT p.F133F ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Silent_p.F151F|ADTRP_ENST00000379413.2_Silent_p.F133F NM_032744.3 NP_116133.1 Q96IZ2 CF105_HUMAN androgen-dependent TFPI-regulating protein 133 integral to membrane TGGGGAATATGAAAGTGTGCT 0.507000 19 17 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82940460 82940460 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:82940460C>T ENST00000274341.4 - 4 1347 c.497G>A c.(496-498)cGa>cAa p.R166Q NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 166 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.R166Q(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GCGCCCCAGTCGTGGAAAGTA 0.537000 23 6 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26592111 26592111 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:26592111G>A ENST00000381340.3 - 47 7008 c.6592C>T c.(6592-6594)Cag>Tag p.Q2198* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2198 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCTGTTTGCTGGAAAAAGTCA 0.378000 28 69 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31655430 31655430 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31655430G>A ENST00000375842.4 - 18 1864 c.878C>T c.(877-879)cCc>cTc p.P293L ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.P512L|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P479L O95870 ABHGA_HUMAN abhydrolase domain containing 16A 512 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CACGCTCCAGGGGAAGTCGGG 0.597000 4 59 0 0 1 0 0 NUPR1 26471 broad.mit.edu 37 16 28549463 28549463 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:28549463C>T ENST00000324873.6 - 2 392 c.126G>A c.(124-126)cgG>cgA p.R42R NUPR1_ENST00000395641.2_Silent_p.R60R NM_001042483.1|NM_012385.2 NP_001035948.1|NP_036517.1 O60356 NUPR1_HUMAN nuclear protein, transcriptional regulator, 1 42 cell growth|induction of apoptosis nucleus breast(1)|large_intestine(1)|lung(1) 3 TGCGACCTTTCCGGCCTCCAC 0.597000 34 89 0 0 1 0 0 PRSS12 8492 broad.mit.edu 37 4 119239661 119239661 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:119239661G>A ENST00000296498.3 - 5 1304 c.1022C>T c.(1021-1023)cCa>cTa p.P341L NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 341 SRCR 2. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 CAACATAACTGGGCCAGACCC 0.448000 17 34 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77623762 77623762 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:77623762G>A ENST00000461745.1 + 14 2984 c.2084G>A c.(2083-2085)cGa>cAa p.R695Q ROBO2_ENST00000332191.8_Missense_Mutation_p.R695Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.R711Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 695 Fibronectin type-III 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.R695Q(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCGACTGAACGAAGTGCTGTC 0.443000 20 4 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501597 90501597 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:90501597A>C ENST00000325643.5 + 4 2261 c.2195A>C c.(2194-2196)gAa>gCa p.E732A NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GCTCTGGACGAAGACAAGGAG 0.557000 12 25 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145724400 145724400 + Silent SNP G G A rs114186172 by1000genomes TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:145724400G>A ENST00000292539.4 + 4 1349 c.432G>A c.(430-432)gcG>gcA p.A144A CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.A144A|CTD-2517M22.14_ENST00000532766.1_RNA Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 144 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGCATGCTGCGGCCACCTGCG 0.627000 9 88 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25023936 25023936 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:25023936C>T ENST00000400382.1 + 13 2081 c.1326C>T c.(1324-1326)ttC>ttT p.F442F GGT1_ENST00000406383.2_Silent_p.F442F|GGT1_ENST00000404223.1_Silent_p.F98F|GGT1_ENST00000404920.1_Silent_p.F98F|GGT1_ENST00000401885.1_Silent_p.F98F|GGT1_ENST00000403838.1_Silent_p.F98F|GGT1_ENST00000248923.4_Silent_p.F442F|GGT1_ENST00000400383.1_Silent_p.F442F|GGT1_ENST00000404532.1_Silent_p.F98F|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Silent_p.F442F P19440 GGT1_HUMAN gamma-glutamyltransferase 1 442 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) CTGCCAATTTCATCCAGCCAG 0.627000 140 173 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2071188 2071188 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:2071188G>A ENST00000262113.4 + 29 3658 c.3517G>A c.(3517-3519)Gag>Aag p.E1173K MYOM2_ENST00000523438.1_Missense_Mutation_p.E598K NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1173 Ig-like C2-type 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GTATGAAACGGAGACACTGCC 0.423000 49 65 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38142889 38142889 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:38142889C>T ENST00000264639.4 + 3 647 c.473C>T c.(472-474)cCc>cTc p.P158L PSMD3_ENST00000541736.1_Missense_Mutation_p.P20L NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 158 TP -> NT (in Ref. 5; AAH12302). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) GCGTCGACACCCCTCCTGCCT 0.532000 156 23 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159568321 159568321 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:159568321G>A ENST00000307765.5 + 16 1975 c.1724G>A c.(1723-1725)gGa>gAa p.G575E RXFP1_ENST00000343542.5_Missense_Mutation_p.G527E|RXFP1_ENST00000448688.2_Missense_Mutation_p.G470E|RXFP1_ENST00000460056.2_Missense_Mutation_p.G494E|RXFP1_ENST00000470033.1_Missense_Mutation_p.G542E NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 575 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GAAAGTATTGGAGCCCAGATT 0.333000 8 38 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2422097 2422097 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:2422097G>A ENST00000332578.3 + 13 2298 c.2298G>A c.(2296-2298)ggG>ggA p.G766G NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 766 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGTCCCGGGGGCCACACCCA 0.657000 33 54 0 0 1 0 0 FAM159A 348378 broad.mit.edu 37 1 53122568 53122568 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:53122568G>A ENST00000517870.1 + 3 579 c.429G>A c.(427-429)caG>caA p.Q143Q FAM159A_ENST00000401050.3_Intron NM_001042693.1 NP_001036158.1 Q6UWV7 F159A_HUMAN family with sequence similarity 159, member A 143 integral to membrane endometrium(3)|lung(6)|upper_aerodigestive_tract(1) 10 TGAACCCGCAGCTGGAGAGCA 0.572000 43 84 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176640232 176640232 + Missense_Mutation SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:176640232G>C ENST00000367662.3 + 4 3282 c.2118G>C c.(2116-2118)aaG>aaC p.K706N PAPPA2_ENST00000367661.3_Missense_Mutation_p.K706N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 706 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTTGGGACAAGGACGCTGTCA 0.498000 10 21 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153800618 153800618 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:153800618C>A ENST00000368655.4 - 2 449 c.206G>T c.(205-207)gGc>gTc p.G69V NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 69 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GACACCACTGCCATCCTGTTT 0.478000 10 138 1.5842e-08 1.60859e-08 1 1 0 KCNJ5 3762 broad.mit.edu 37 11 128781893 128781893 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:128781893G>A ENST00000529694.1 + 2 1101 c.725G>A c.(724-726)cGg>cAg p.R242Q KCNJ5_ENST00000533599.1_Missense_Mutation_p.R242Q|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R242Q NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 242 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) ATCAAGTCCCGGCAGACCAAA 0.612000 52 8 0 0 1 0 0 CSDE1 7812 broad.mit.edu 37 1 115266543 115266543 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:115266543G>A ENST00000438362.2 - 16 2350 c.1972C>T c.(1972-1974)Cag>Tag p.Q658* CSDE1_ENST00000530886.1_Nonsense_Mutation_p.Q482*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.Q612*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.Q581*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.Q627*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.Q581*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.Q612* NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 612 CSD 8. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCAGTCTGTGTTGGATCA 0.438000 175 163 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13708340 13708340 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:13708340G>A ENST00000265104.4 - 76 13334 c.13230C>T c.(13228-13230)acC>acT p.T4410T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4410 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCTCAGTGAGGGTGCTGCGGA 0.483000 Kartagener syndrome 21 167 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691916 106691916 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:106691916G>A ENST00000390607.2 - 0 186 AGAGTCTCAGGGACCCCCCAG 0.587000 87 15 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94836975 94836975 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:94836975G>A ENST00000371531.1 + 7 1579 c.1201G>A c.(1201-1203)Gga>Aga p.G401R CYP26A1_ENST00000394139.1_Missense_Mutation_p.G401R|CYP26A1_ENST00000224356.4_Missense_Mutation_p.G470R NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 470 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) GCTTCTAAATGGACCTCCTAC 0.453000 24 43 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79419781 79419781 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:79419781G>A ENST00000307745.7 + 18 4349 c.4349G>A c.(4348-4350)cGg>cAg p.R1450Q CCTGCACGGCGGGGGCCTGGC 0.677000 5 7 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798296 113798296 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:113798296G>A ENST00000375559.3 + 6 672 c.634G>A c.(634-636)Gag>Aag p.E212K F10_ENST00000375551.3_Missense_Mutation_p.E212K|F10_ENST00000409306.1_Missense_Mutation_p.E212K NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 212 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGACCCCACCGAGAACCCCTT 0.627000 32 84 0 0 1 0 0 WFDC10B 280664 broad.mit.edu 37 20 44313599 44313599 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:44313599C>T ENST00000330523.5 - 4 322 c.91_splice c.e4-1 p.R31_splice WFDC10B_ENST00000335769.2_Splice_Site_p.G47_splice NM_172006.2 NP_742003.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 31 WAP. extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) GACCTTGATTCCTGAAATGAT 0.478000 24 29 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432921 104432921 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:104432921C>T ENST00000361820.3 - 3 2373 c.1773G>A c.(1771-1773)atG>atA p.M591I NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 591 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGTCAAAGTTCATGTCTTCTG 0.448000 3 12 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33569341 33569341 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:33569341C>T ENST00000321505.4 + 3 2706 c.2526C>T c.(2524-2526)atC>atT p.I842I KIAA1549L_ENST00000265654.5_Silent_p.I848I|KIAA1549L_ENST00000389726.3_Silent_p.I848I KIAA1549-like GAGTGCAGATCAGTGAATCCT 0.488000 10 12 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37583908 37583908 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:37583908T>C ENST00000360252.4 - 25 2387 c.2140A>G c.(2140-2142)Agc>Ggc p.S714G SUPT20H_ENST00000356185.3_Missense_Mutation_p.S714G|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S792G|SUPT20H_ENST00000350612.6_Silent_p.A747A|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S714G NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) GTGCTGCTGCTGCTGCCATAG 0.458000 16 74 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14507996 14507996 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:14507996C>T ENST00000242786.5 + 6 666 c.586C>T c.(586-588)Ccg>Tcg p.P196S CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 196 EGF-like 4; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCAACCGATTCCGGGGTCCCC 0.587000 49 93 0 0 1 0 0 QRFPR 84109 broad.mit.edu 37 4 122301782 122301782 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:122301782G>A ENST00000394427.2 - 1 432 c.21C>T c.(19-21)acC>acT p.T7T QRFPR_ENST00000334383.5_Silent_p.T7T NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 7 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 ACTGCTCCGGGGTAATGTTAA 0.682000 4 14 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25330436 25330436 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:25330436G>A ENST00000546682.1 + 0 420 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 GTGTGGCATGGGCTCCTTCAG 0.527000 12 1 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22923846 22923846 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:22923846A>G ENST00000166244.3 + 10 1879 c.1807A>G c.(1807-1809)Aag>Gag p.K603E NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 603 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCCCCCGGGAAAGCTCCCAGA 0.642000 38 79 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188633 140188633 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140188633C>T ENST00000530339.1 + 1 1861 c.1861C>T c.(1861-1863)Ccg>Tcg p.P621S PCDHA4_ENST00000356878.4_Missense_Mutation_p.P621S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P621S NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCGCATCCCGTTCCGCGT 0.672000 111 20 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111970318 111970318 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:111970318C>T ENST00000374566.3 - 18 2281 c.1764G>A c.(1762-1764)aaG>aaA p.K588K NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 588 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCGAGACTTTCTTTTCTTCAG 0.398000 23 31 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53573081 53573081 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:53573081G>A ENST00000601421.1 - 3 1474 c.598C>T c.(598-600)Cat>Tat p.H200Y ZNF160_ENST00000418871.1_Missense_Mutation_p.H236Y|ZNF160_ENST00000599056.1_Missense_Mutation_p.H236Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H236Y Q9HCG1 ZN160_HUMAN zinc finger protein 160 236 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TTAAGTTCATGATATTTTTTA 0.368000 39 64 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219875643 219875643 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:219875643C>T ENST00000341552.5 - 25 4116 c.4033G>A c.(4033-4035)Gaa>Aaa p.E1345K CCDC108_ENST00000453220.1_Missense_Mutation_p.E1345K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1345K|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1345 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAATTTTTTTCCTGAACCTGT 0.507000 23 9 0 0 1 0 0 ZNF561 93134 broad.mit.edu 37 19 9721471 9721471 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9721471G>A ENST00000302851.3 - 6 1229 c.866C>T c.(865-867)tCc>tTc p.S289F ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.S153F|ZNF561_ENST00000424629.1_Missense_Mutation_p.S220F NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 ATTTCTAAAGGATCTTCCACA 0.358000 22 35 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4777018 4777018 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:4777018G>A ENST00000354582.6 + 43 5829 c.5479G>A c.(5479-5481)Gga>Aga p.G1827R ITPR1_ENST00000456211.2_Missense_Mutation_p.G1779R|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1827R|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1794R|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1794R|ITPR1_ENST00000302640.8_Missense_Mutation_p.G1827R|ITPR1_ENST00000544951.1_Intron Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1842 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CCTTCTGGAAGGAGGCAACAC 0.547000 48 8 0 0 1 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51769074 51769074 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:51769074C>T ENST00000316401.7 + 4 729 c.348C>T c.(346-348)atC>atT p.I116I SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Silent_p.I22I NM_173635.1 NP_775906.1 SIGLEC family like 1 AAGGGCTGATCCAGGGTGCTA 0.512000 157 204 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36505490 36505490 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:36505490C>T ENST00000373191.4 + 15 2291 c.1942C>T c.(1942-1944)Cgg>Tgg p.R648W AGO3_ENST00000246314.6_Missense_Mutation_p.R414W NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 CTCCATGGTCCGGGAACTTCT 0.483000 20 66 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15757899 15757899 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:15757899C>T ENST00000221307.7 + 4 429 c.381C>T c.(379-381)ttC>ttT p.F127F CYP4F3_ENST00000585846.1_Silent_p.F127F|CYP4F3_ENST00000586182.1_Silent_p.F127F|CYP4F3_ENST00000591058.1_Silent_p.F127F NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 127 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TCTACAGCTTCCTGAAGCCCT 0.582000 30 63 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102337762 102337762 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:102337762C>T ENST00000395065.3 - 8 807 c.706G>A c.(706-708)Gat>Aat p.D236N NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.D147N NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 236 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ATCTTAGTATCACGGTTCACC 0.522000 63 9 0 0 1 0 0 IL4 3565 broad.mit.edu 37 5 132018195 132018195 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:132018195G>A ENST00000231449.2 + 4 443 c.378G>A c.(376-378)aaG>aaA p.K126K IL4_ENST00000350025.2_Silent_p.K110K NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 126 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) GTCCTGTGAAGGAAGCCAACC 0.398000 37 8 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117662760 117662760 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:117662760G>A ENST00000368508.3 - 29 4903 c.4705C>T c.(4705-4707)Cgg>Tgg p.R1569W ROS1_ENST00000368507.3_Missense_Mutation_p.R1563W|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1569 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGTCTGACCGCACAGTTGTA 0.428000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 8 18 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89869920 89869920 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:89869920G>A ENST00000268124.5 - 9 1968 c.1635C>T c.(1633-1635)gcC>gcT p.A545A POLG_ENST00000442287.2_Silent_p.A545A NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 545 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) AGCAGGCGCGGGCCATGACAT 0.617000 DNA polymerases (catalytic subunits) 30 9 0 0 1 0 0 ACTG2 72 broad.mit.edu 37 2 74140759 74140759 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:74140759C>T ENST00000409624.1 + 7 1242 c.599C>T c.(598-600)tCc>tTc p.S200F ACTG2_ENST00000409731.3_Missense_Mutation_p.S157F|ACTG2_ENST00000345517.3_Missense_Mutation_p.S200F P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 200 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGAGGCTATTCCTTTGTGACC 0.512000 56 18 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10112322 10112322 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:10112322T>A ENST00000264828.3 - 8 1073 c.988A>T c.(988-990)Acc>Tcc p.T330S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 330 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCCAGCTCGGTTCCACTGTCA 0.562000 OREG0025228 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 42 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2752276 2752276 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:2752276G>A ENST00000312371.4 + 7 1629 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 421 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CCTGCAGCGGGAAGTGGCAGA 0.697000 14 33 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143973980 143973980 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:143973980A>C ENST00000409869.1 + 5 439 c.262A>C c.(262-264)Aaa>Caa p.K88Q ARHGAP15_ENST00000295095.6_Missense_Mutation_p.K88Q Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 88 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TTATCTGCAAAAAGCTAAAAT 0.313000 12 33 0 0 1 0 0 CNOT11 55571 broad.mit.edu 37 2 101883186 101883186 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:101883186C>T ENST00000289382.3 + 5 1246 c.1083C>T c.(1081-1083)ggC>ggT p.G361G NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 ACCATATTGGCCTCACCCCAG 0.423000 43 94 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57171796 57171796 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:57171796G>A ENST00000371244.4 + 8 1391 c.1325G>A c.(1324-1326)aGa>aAa p.R442K NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 442 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 CGTGTAAGAAGAAAAAATCCA 0.308000 16 39 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38481998 38481998 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:38481998C>T ENST00000263409.4 - 20 3155 c.2993G>A c.(2992-2994)gGg>gAg p.G998E LIFR_ENST00000453190.2_Missense_Mutation_p.G998E NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 998 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATAGCCTGCCCCTCCTACAGG 0.458000 T PLAG1 salivary adenoma 32 42 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37543574 37543574 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:37543574G>A ENST00000379066.1 - 2 856 c.94C>T c.(94-96)Cct>Tct p.P32S PRKD3_ENST00000234179.2_Missense_Mutation_p.P32S O94806 KPCD3_HUMAN protein kinase D3 32 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) CCCGTCTTAGGACTTGAACAC 0.498000 7 61 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31914898 31914898 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31914898G>A ENST00000456570.1 + 15 1974 c.1919G>A c.(1918-1920)cGg>cAg p.R640Q CFB_ENST00000477310.1_Missense_Mutation_p.R489Q|CFB_ENST00000556679.1_Missense_Mutation_p.R640Q|CFB_ENST00000425368.2_Missense_Mutation_p.R138Q P00751 CFAB_HUMAN complement factor B 138 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TACACTCTCCGGGGCTCTGCC 0.562000 4 185 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62361854 62361854 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:62361854G>A ENST00000278823.2 - 17 2107 c.1718C>T c.(1717-1719)tCt>tTt p.S573F MTA2_ENST00000524902.1_Missense_Mutation_p.S400F|MTA2_ENST00000527204.1_Missense_Mutation_p.S400F NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 573 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 TCCATTGGCAGAGAAAGGAAC 0.557000 11 13 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22248889 22248889 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:22248889C>T ENST00000324559.8 + 7 722 c.405C>T c.(403-405)gcC>gcT p.A135A NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 135 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGATCCATGCCCCTTGGGAGG 0.413000 14 17 0 0 1 0 0 MTPN 136319 broad.mit.edu 37 7 135636300 135636300 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:135636300G>A ENST00000393085.3 - 2 366 c.151C>T c.(151-153)Ctg>Ttg p.L51L MTPN_ENST00000435723.1_Intron NM_001128619.2|NM_145808.3 NP_001122091.2|NP_665807.1 P58546 MTPN_HUMAN myotrophin 51 cell growth|regulation of striated muscle tissue development|regulation of translation cytoplasm protein binding endometrium(1)|lung(4)|prostate(1) 6 AGAAATTCCAGGATTTCAAGC 0.388000 23 47 0 0 1 0 0 KRTAP21-2 337978 broad.mit.edu 37 21 32119353 32119353 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:32119353G>A ENST00000333892.2 - 1 198 c.168C>T c.(166-168)ggC>ggT p.G56G NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 56 intermediate filament lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 catatccacagccagagccgt 0.512000 22 50 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72416259 72416259 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:72416259C>T ENST00000333850.3 + 9 1290 c.1149C>T c.(1147-1149)tcC>tcT p.S383S NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 383 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TCCTTTCCTCCATTGGAGAAT 0.423000 14 18 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133196544 133196544 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:133196544C>T ENST00000388996.4 - 3 968 c.548G>A c.(547-549)cGa>cAa p.R183Q KCNQ3_ENST00000519445.1_Missense_Mutation_p.R183Q|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R63Q NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 183 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCCTTTGTATCGGCAGCAACA 0.547000 51 88 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79589264 79589264 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:79589264G>A ENST00000372391.2 - 12 2039 c.2034C>T c.(2032-2034)atC>atT p.I678I DLG5_ENST00000372388.2_Silent_p.I678I NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 678 PDZ 1. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CCACATCGTTGATTCTCAGCA 0.592000 69 83 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7895934 7895934 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:7895934C>T ENST00000377532.3 + 19 3551 c.3327C>T c.(3325-3327)gcC>gcT p.A1109A PER3_ENST00000361923.2_Silent_p.A1100A P56645 PER3_HUMAN period circadian clock 3 1100 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CTAATGTCGCCGAAGAGCCCA 0.423000 17 39 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27324800 27324800 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:27324800G>A ENST00000407991.1 - 5 1003 c.395C>T c.(394-396)tCt>tTt p.S132F CHRNA2_ENST00000240132.2_Missense_Mutation_p.S117F|CHRNA2_ENST00000520933.2_Missense_Mutation_p.S132F NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 132 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GACCCTGAGAGATGTGATGTT 0.547000 30 70 0 0 1 0 0 KCNAB2 8514 broad.mit.edu 37 1 6147560 6147560 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:6147560C>T ENST00000164247.1 + 8 924 c.360C>T c.(358-360)ttC>ttT p.F120F KCNAB2_ENST00000378092.1_Silent_p.F106F|KCNAB2_ENST00000378083.3_Silent_p.F153F|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.F106F|KCNAB2_ENST00000341524.1_Silent_p.F120F|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Silent_p.F120F|KCNAB2_ENST00000378097.1_Silent_p.F120F|KCNAB2_ENST00000458166.2_Silent_p.F53F NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 120 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) CCAAGATCTTCTGGGGCGGAA 0.642000 52 50 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18691786 18691786 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:18691786G>A ENST00000251296.1 + 6 993 c.610G>A c.(610-612)Ggc>Agc p.G204S NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 204 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGCGAGCTCCGGCCCCCTACA 0.582000 32 59 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151176362 151176362 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:151176362G>A ENST00000282466.3 - 1 135 c.136C>T c.(136-138)Cgg>Tgg p.R46W NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 46 LRRNT. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTCAGGTACCGAAATGTGCAG 0.557000 60 64 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137734005 137734005 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:137734005C>T ENST00000371817.3 + 66 5787 c.5373C>T c.(5371-5373)acC>acT p.T1791T NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1791 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TTCCCCAGACCAAGAAAGGCT 0.547000 19 43 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274193 103274193 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:103274193G>T ENST00000233969.2 + 2 602 c.460G>T c.(460-462)Ggc>Tgc p.G154C NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 154 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GCTGGATGCCGGCTATTTCAT 0.478000 235 65 5.96336e-116 6.18059e-116 1 1 0 TTN 7273 broad.mit.edu 37 2 179638758 179638758 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:179638758G>A ENST00000589042.1 - 31 7361 c.7137C>T c.(7135-7137)gtC>gtT p.V2379V TTN_ENST00000360870.5_Silent_p.V2379V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Silent_p.V2379V|TTN_ENST00000359218.5_Silent_p.V2333V|TTN_ENST00000460472.2_Silent_p.V2333V|TTN_ENST00000342175.6_Silent_p.V2333V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V2379V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2101 Ig-like 13. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCCAAGGAGACTTTAACTT 0.468000 54 7 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5784033 5784033 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:5784033G>A ENST00000419421.2 - 3 329 c.225C>T c.(223-225)ttC>ttT p.F75F CTB-54O9.9_ENST00000586012.1_3'UTR NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 73 endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 TGCGGGGGTCGAAGAAGCACC 0.697000 4 13 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153870694 153870694 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:153870694T>A ENST00000356448.4 + 6 1744 c.1460T>A c.(1459-1461)aTt>aAt p.I487N ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.I487N NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 487 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 TTCTCCAATATTACAGATGTC 0.378000 2 4 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107703395 107703395 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:107703395G>A ENST00000388781.3 - 23 3189 c.3106C>T c.(3106-3108)Cct>Tct p.P1036S LAMB4_ENST00000388780.3_Missense_Mutation_p.P1036S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1036S NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1036 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CCCCCACCAGGGGGACACTCC 0.537000 21 41 0 0 1 0 0 CD226 10666 broad.mit.edu 37 18 67614074 67614074 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:67614074A>G ENST00000280200.4 - 3 546 c.278T>C c.(277-279)cTt>cCt p.L93P CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.L93P|CD226_ENST00000581982.1_Intron NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 93 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) CCGAAAGAAAAGAGTCATGTT 0.443000 11 20 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40657439 40657439 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:40657439G>A ENST00000267889.3 + 6 898 c.811G>A c.(811-813)Gac>Aac p.D271N NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 271 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GCCCCTGGAGGACAGAAGGCA 0.612000 34 2 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100022402 100022402 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:100022402G>A ENST00000258428.3 - 17 3009 c.2781C>T c.(2779-2781)aaC>aaT p.N927N REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.N926N NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 927 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTATACTCAGGTTAAGTCTCG 0.398000 Direct reversal of damage 60 15 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38775153 38775153 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:38775153C>T ENST00000308973.4 - 4 2664 c.2059G>A c.(2059-2061)Gag>Aag p.E687K TLR10_ENST00000508334.1_Missense_Mutation_p.E687K|TLR10_ENST00000506111.1_Missense_Mutation_p.E687K|TLR10_ENST00000361424.2_Missense_Mutation_p.E687K NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 687 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TAGCTTTTCTCAATGAAGCTT 0.388000 64 35 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 484712 484712 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:484712G>A ENST00000264938.3 - 5 864 c.855C>T c.(853-855)atC>atT p.I285I SLC9A3_ENST00000514375.1_Silent_p.I285I NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 285 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGCCGGGCTCGATGATACGCA 0.622000 6 63 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3680096 3680096 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:3680096G>A ENST00000344754.4 - 7 1538 c.1539C>T c.(1537-1539)ctC>ctT p.L513L SIGLEC1_ENST00000202578.4_Silent_p.L513L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 513 Ig-like C2-type 5. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GGCTGATGAGGAGACGGGCGG 0.627000 20 13 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129103954 129103954 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:129103954C>T ENST00000249344.2 + 15 1661 c.1621C>T c.(1621-1623)Ctg>Ttg p.L541L STRIP2_ENST00000435494.2_Silent_p.L541L NM_020704.2 NP_065755.1 striatin interacting protein 2 TATCAATATCCTGGCAGATGT 0.493000 29 50 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44147811 44147811 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:44147811G>A ENST00000398776.1 + 14 1589 c.1551G>A c.(1549-1551)ggG>ggA p.G517G CAPN11_ENST00000542245.1_Silent_p.G517G NM_007058.3 NP_008989.2 Q9UMQ6 CAN11_HUMAN calpain 11 517 Domain III. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCCTCCGGGGGAATATATCA 0.532000 49 45 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49877783 49877783 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:49877783C>T ENST00000331456.2 - 9 842 c.729G>A c.(727-729)ttG>ttA p.L243L TRAIP_ENST00000469027.1_Silent_p.L88L NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 243 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGCCTGATCCAATTCAGAGT 0.517000 64 6 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31593911 31593911 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31593911G>T ENST00000376033.2 + 9 1188 c.954G>T c.(952-954)ttG>ttT p.L318F PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.L318F NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 318 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TTGATCAGTTGGATCAGGAGA 0.468000 3 99 0.0215528 0.0215974 1 1 0 RET 5979 broad.mit.edu 37 10 43614995 43614995 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:43614995C>T ENST00000355710.3 + 14 2641 c.2409C>T c.(2407-2409)atC>atT p.I803I RET_ENST00000340058.5_Silent_p.I803I NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 803 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCCTCCTCATCGTGGAGTACG 0.706000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 2 1 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106927072 106927072 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:106927072C>T ENST00000369701.3 + 13 2093 c.1866C>T c.(1864-1866)gcC>gcT p.A622A NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 622 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCCTCGTGGCCATGAAACACA 0.458000 11 22 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21628998 21628998 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:21628998C>T ENST00000328843.6 + 12 2177 c.2146C>T c.(2146-2148)Ctc>Ttc p.L716F DNAH11_ENST00000409508.3_Missense_Mutation_p.L716F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 716 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AAATGGTCTTCTCTGTGTCAA 0.313000 Kartagener syndrome 25 55 0 0 1 0 0 WASF1 8936 broad.mit.edu 37 6 110424720 110424720 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:110424720G>A ENST00000392589.1 - 9 1590 c.754C>T c.(754-756)Ctt>Ttt p.L252F WASF1_ENST00000392586.1_Missense_Mutation_p.L252F|WASF1_ENST00000359451.2_Missense_Mutation_p.L252F|WASF1_ENST00000392588.1_Missense_Mutation_p.L252F|WASF1_ENST00000392587.2_Missense_Mutation_p.L252F NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 252 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) AAGGCAGAAAGTGAGTAAGAT 0.413000 42 7 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140331055 140331055 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:140331055G>A ENST00000371506.2 - 6 887 c.704C>T c.(703-705)tCc>tTc p.S235F ENTPD8_ENST00000472938.1_Missense_Mutation_p.S235F|ENTPD8_ENST00000344119.2_Missense_Mutation_p.S235F NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 235 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GCTGTAGTCGGAGCCGTAGAG 0.637000 6 9 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138384011 138384011 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:138384011G>A ENST00000477593.1 - 19 2612 c.2539C>T c.(2539-2541)Cgc>Tgc p.R847C PIK3CB_ENST00000289153.2_Missense_Mutation_p.R847C|PIK3CB_ENST00000544716.1_Missense_Mutation_p.R298C P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 847 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.R847G(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGGCCAGAGCGATCTCCTGTT 0.418000 45 29 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795970 15795970 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:15795970G>A ENST00000550308.1 + 9 1458 c.1078G>A c.(1078-1080)Gag>Aag p.E360K CYP4F12_ENST00000324632.9_Missense_Mutation_p.E360K NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GGAGGTGCAAGAGCTTCTGAA 0.572000 3 59 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96702071 96702071 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:96702071C>T ENST00000260682.6 + 3 466 c.454C>T c.(454-456)Ctt>Ttt p.L152F CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 152 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AGCCCGCTGCCTTGTGGAGGA 0.498000 30 32 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94697158 94697158 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:94697158G>A ENST00000260526.6 - 2 192 c.10C>T c.(10-12)Cac>Tac p.H4Y ARHGAP29_ENST00000370217.3_Missense_Mutation_p.H4Y NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 4 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCTGTTTGTGAGCAATCATC 0.383000 17 58 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42771212 42771212 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:42771212C>T ENST00000330714.3 + 10 1546 c.1362C>T c.(1360-1362)atC>atT p.I454I MX2_ENST00000496774.1_3'UTR NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 454 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) ACAACAAAATCAGAGAGGATT 0.393000 26 68 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41203369 41203369 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:41203369G>A ENST00000542215.1 + 8 900 c.898G>A c.(898-900)Gga>Aga p.G300R DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000399959.2_Silent_p.E284E|DDX3X_ENST00000457138.2_Silent_p.E268E|DDX3X_ENST00000441189.2_Intron O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 415 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 AGATCTACGAGGAAGCCAGAA 0.363000 HNSCC(61;0.18) 11 0 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45241180 45241180 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:45241180C>T ENST00000352766.7 + 13 1258 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S ARHGAP8_ENST00000336963.4_Missense_Mutation_p.P210S|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.P332S|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.P341S|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.P420S|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.P241S|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.P210S breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 CGAACTCATCCCCCCTGTGCT 0.532000 62 63 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701590 143701590 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:143701590C>T ENST00000408922.2 + 1 569 c.501C>T c.(499-501)agC>agT p.S167S NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CCTGCCTCAGCTTCTGTGGTC 0.502000 22 28 0 0 1 0 0 C12orf60 144608 broad.mit.edu 37 12 14976084 14976084 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:14976084C>G ENST00000330828.2 + 2 419 c.215C>G c.(214-216)tCt>tGt p.S72C C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 72 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 GAGATGCAATCTGTAGTGGAT 0.368000 3 88 0 0 1 0 0 UBE2J2 118424 broad.mit.edu 37 1 1192648 1192648 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:1192648G>A ENST00000347370.2 - 4 532 c.59C>T c.(58-60)cCt>cTt p.P20L UBE2J2_ENST00000348298.7_Missense_Mutation_p.P20L|UBE2J2_ENST00000349431.6_Missense_Mutation_p.P72L|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000339385.6_Missense_Mutation_p.P37L|UBE2J2_ENST00000360466.2_Missense_Mutation_p.P72L|UBE2J2_ENST00000400929.2_Missense_Mutation_p.P20L|UBE2J2_ENST00000400930.4_Missense_Mutation_p.P88L NM_194458.1 NP_919440.1 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 72 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) AGGTTTGAAAGGAAATTCTCT 0.512000 13 60 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816306 6816306 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:6816306G>A ENST00000332601.3 - 1 822 c.634C>T c.(634-636)Ctt>Ttt p.L212F NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGCCCTAGAAGAATAAAAATG 0.488000 27 37 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74042462 74042462 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:74042462A>C ENST00000409561.1 + 3 1233 c.1112A>C c.(1111-1113)aAg>aCg p.K371T NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 371 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 AACCTTTCAAAGCCTCTAGAT 0.443000 27 7 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111746297 111746297 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:111746297C>T ENST00000261726.6 + 14 1379 c.1225C>T c.(1225-1227)Ctt>Ttt p.L409F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 409 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCAGAAATTCCTTCTGGAGAA 0.617000 5 6 0 0 1 0 0 COG3 83548 broad.mit.edu 37 13 46092966 46092966 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:46092966T>C ENST00000349995.5 + 18 2112 c.2000T>C c.(1999-2001)tTg>tCg p.L667S NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 667 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) AACAATGCCTTGATAGAGTTC 0.393000 53 25 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962701 117962701 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:117962701G>A ENST00000425217.1 - 14 2142 c.2088C>T c.(2086-2088)ttC>ttT p.F696F KSR2_ENST00000302438.5_Silent_p.F422F|KSR2_ENST00000339824.5_Silent_p.F725F|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 725 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGCACCCATGAAAAGCACCA 0.577000 22 24 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9661186 9661186 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:9661186C>T ENST00000340305.5 + 5 639 c.630C>T c.(628-630)tcC>tcT p.S210S TMEM201_ENST00000340381.6_Silent_p.S210S|TMEM201_ENST00000377376.4_Silent_p.S210S NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 210 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) CCGTGAAGTCCCCGGTCCAGG 0.657000 76 83 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55253047 55253047 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:55253047A>C ENST00000381298.2 - 9 1358 c.1046T>G c.(1045-1047)cTc>cGc p.L349R IL6ST_ENST00000381294.3_Missense_Mutation_p.L349R|IL6ST_ENST00000502326.3_Missense_Mutation_p.L349R|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.L349R|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Intron NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 349 Fibronectin type-III 3. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CTTCCACACGAGTTGTACAGT 0.348000 O hepatocellular ca 45 11 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76437281 76437281 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:76437281C>T ENST00000389840.5 - 72 11611 c.11486_splice c.e72-1 p.K3829_splice DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Splice_Site_p.K3838_splice dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCACGAAGTTCCTAGGGGTGG 0.612000 20 19 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121720613 121720613 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:121720613C>T ENST00000273691.3 - 4 583 c.478G>A c.(478-480)Gaa>Aaa p.E160K ILDR1_ENST00000462014.1_Missense_Mutation_p.E172K|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.E160K NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 160 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) AGCTTTACTTCCTTATCGGGG 0.458000 58 84 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52759346 52759346 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:52759346C>T ENST00000287727.3 + 11 3419 c.3247C>T c.(3247-3249)Cga>Tga p.R1083* ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.R1024*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.R1083* NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1083 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AGCTGAATATCGACGTAAGTA 0.388000 27 25 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50546388 50546388 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:50546388C>T ENST00000267845.3 - 6 1061 c.659G>A c.(658-660)cGa>cAa p.R220Q HDC_ENST00000543581.1_Missense_Mutation_p.R220Q NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 220 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AGCTTCCCCTCGGAGTGAGAA 0.488000 29 9 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60567351 60567351 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:60567351G>A ENST00000308287.1 + 8 869 c.773G>A c.(772-774)gGa>gAa p.G258E NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 258 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 gtcactgacggagctgcgatc 0.507000 5 19 0 0 1 0 0 ITGBL1 9358 broad.mit.edu 37 13 102344973 102344973 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr13:102344973G>A ENST00000376180.3 + 8 1273 c.1054G>A c.(1054-1056)Gga>Aga p.G352R ITGBL1_ENST00000545560.2_Missense_Mutation_p.G211R|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G259R NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 352 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTATCCTCCAGGAGATCGCCG 0.483000 24 39 0 0 1 0 0 ENOPH1 58478 broad.mit.edu 37 4 83375960 83375960 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:83375960G>A ENST00000273920.3 + 4 743 c.475G>A c.(475-477)Gca>Aca p.A159T ENOPH1_ENST00000509635.1_Missense_Mutation_p.A71T NM_021204.3 NP_067027.1 Q9UHY7 ENOPH_HUMAN enolase-phosphatase 1 159 L-methionine salvage from methylthioadenosine cytoplasm|nucleus 2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1) 13 GAGTGTGGAGGCACAGAAACT 0.443000 128 80 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64882158 64882158 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:64882158C>T ENST00000555709.1 + 5 710 c.323C>T c.(322-324)tCc>tTc p.S108F MTHFD1_ENST00000555252.1_Missense_Mutation_p.S88F|MTHFD1_ENST00000216605.7_Missense_Mutation_p.S164F|MTHFD1_ENST00000545908.1_Missense_Mutation_p.S164F NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 108 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCAGAGAATTCCATTAACACT 0.388000 143 15 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23792410 23792410 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:23792410G>A ENST00000354639.3 + 9 1487 c.1023G>A c.(1021-1023)atG>atA p.M341I STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.M364I|STK31_ENST00000428484.1_Missense_Mutation_p.M341I|STK31_ENST00000433467.2_Missense_Mutation_p.M364I NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 364 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.M364I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ATACCAGAATGAAAAATCTGG 0.338000 14 44 0 0 1 0 0 TYROBP 7305 broad.mit.edu 37 19 36398661 36398661 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:36398661A>C ENST00000585901.2 - 2 83 c.65T>G c.(64-66)cTc>cGc p.L22R TYROBP_ENST00000589517.1_Missense_Mutation_p.L22R|TYROBP_ENST00000424586.3_Intron|TYROBP_ENST00000544690.2_Intron|TYROBP_ENST00000262629.4_Missense_Mutation_p.L22R O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 22 axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1) 8 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACAGGACGGAGACCTGAGGA 0.597000 19 16 0 0 1 0 0 RAD9A 5883 broad.mit.edu 37 11 67164707 67164707 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:67164707G>A ENST00000307980.2 + 10 1023 c.930G>A c.(928-930)atG>atA p.M310I RAD9A_ENST00000535644.1_3'UTR NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) 310 Sufficient for interaction with ABL1. DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) TGATCGCCATGGAAACCACTA 0.612000 Other conserved DNA damage response genes 23 73 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375669 93375669 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:93375669G>A ENST00000375765.3 - 2 829 c.441C>T c.(439-441)ttC>ttT p.F147F NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 147 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 AGGTCTCCATGAAGGCACACT 0.602000 9 50 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100123389 100123389 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:100123389G>A ENST00000395996.1 + 6 755 c.644G>A c.(643-645)cGg>cAg p.R215Q VPS13B_ENST00000441350.2_Missense_Mutation_p.R215Q|VPS13B_ENST00000357162.2_Missense_Mutation_p.R215Q|VPS13B_ENST00000358544.2_Missense_Mutation_p.R215Q|VPS13B_ENST00000355155.1_Missense_Mutation_p.R215Q Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 215 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTTGATAAACGGAATGCCAGT 0.303000 12 52 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762535 53762535 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:53762535C>T ENST00000341702.3 + 1 991 c.907C>T c.(907-909)Ctc>Ttc p.L303F VN1R2_ENST00000598458.1_3'UTR NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 303 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TAGGAACAATCTCTACCCCAA 0.493000 57 77 0 0 1 0 0 FOXO3 2309 broad.mit.edu 37 6 108985241 108985241 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:108985241C>T ENST00000406360.1 + 2 1548 c.1205C>T c.(1204-1206)tCg>tTg p.S402L FOXO3_ENST00000540898.1_Missense_Mutation_p.S182L|FOXO3_ENST00000343882.6_Missense_Mutation_p.S402L NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 402 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) TCCCAGCCATCGCCCACTGGG 0.582000 63 9 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4674278 4674278 + Silent SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:4674278C>G ENST00000396952.5 + 2 1172 c.522C>G c.(520-522)tcC>tcG p.S174S OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTGCCGCTCCAATATCCTTT 0.537000 99 82 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790479 133790479 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:133790479G>A ENST00000321016.8 - 18 3371 c.3141C>T c.(3139-3141)ttC>ttT p.F1047F IGSF9B_ENST00000533871.2_Silent_p.F1047F Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1047 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCAGCCCCCCGAAGGGGAATT 0.657000 42 5 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7647994 7647994 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:7647994C>T ENST00000359156.4 - 6 1305 c.1103G>A c.(1102-1104)gGa>gAa p.G368E CD163_ENST00000541972.1_Missense_Mutation_p.G356E|CD163_ENST00000396620.3_Missense_Mutation_p.G368E|CD163_ENST00000432237.2_Missense_Mutation_p.G368E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 368 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CAGATCTGATCCATCTGCAAA 0.438000 17 23 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505199 37505199 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:37505199G>A ENST00000374660.1 + 38 3248 c.3149G>A c.(3148-3150)gGa>gAa p.G1050E ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G931E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G931E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1053 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.G931A(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CAACGTACAGGAAAAATGGAA 0.333000 5 6 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109940943 109940943 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:109940943C>T ENST00000342494.3 + 14 1993 c.1398C>T c.(1396-1398)ctC>ctT p.L466L UBE3B_ENST00000280774.5_Silent_p.L466L|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Silent_p.L466L NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 466 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TCTGTGTCCTCTACCAGACCT 0.522000 29 51 0 0 1 0 0 CACNG8 59283 broad.mit.edu 37 19 54485595 54485595 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:54485595C>T ENST00000270458.2 + 4 873 c.770C>T c.(769-771)cCc>cTc p.P257L MIR935_ENST00000401179.1_RNA NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 257 Gly-rich. regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GGGAGCGGCCCCTCGGCCATC 0.736000 3 1 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42143224 42143224 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:42143224G>A ENST00000444063.1 + 1 172 c.40G>A c.(40-42)Ggt>Agt p.G14S L3MBTL1_ENST00000373135.3_Missense_Mutation_p.G14S|L3MBTL1_ENST00000418998.1_Intron|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.G14S|L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000457824.1_3'UTR Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 14 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 CTCCGAGATGGGTCAAGGACC 0.637000 13 10 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100087112 100087112 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:100087112C>T ENST00000423930.1 + 4 1927 c.1768C>T c.(1768-1770)Ctg>Ttg p.L590L NYAP1_ENST00000300179.2_Silent_p.L590L|NYAP1_ENST00000454988.1_Silent_p.L533L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 590 CAAGATCCAGCTGCAGGAGCA 0.632000 56 30 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159033320 159033320 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:159033320C>T ENST00000368130.4 - 5 1249 c.961G>A c.(961-963)Gga>Aga p.G321R NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 321 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) AGTTTTTCTCCATTTTTTGAC 0.413000 13 138 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 70 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6190872 6190872 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:6190872G>A ENST00000530810.1 - 1 766 c.685C>T c.(685-687)Cgt>Tgt p.R229C RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGGCAAACGAAACACTGCT 0.478000 7 16 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87588279 87588279 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:87588279T>C ENST00000320005.5 - 18 2230 c.2183A>G c.(2182-2184)aAa>aGa p.K728R NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 728 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ttcattttctttttgtttatc 0.338000 9 12 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44938250 44938250 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:44938250C>T ENST00000296125.4 + 6 667 c.599C>T c.(598-600)tCc>tTc p.S200F NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 200 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ACTGAGAGCTCCCTCAAGCCC 0.512000 95 9 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27004735 27004735 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:27004735C>T ENST00000314616.6 + 8 1183 c.900C>T c.(898-900)ctC>ctT p.L300L SUPT6H_ENST00000347486.4_Silent_p.L300L NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 300 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CACTCCAGCTCCGCTCCATCC 0.463000 67 98 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30357224 30357224 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:30357224C>T ENST00000361371.4 - 4 515 c.365G>A c.(364-366)cGa>cAa p.R122Q LTN1_ENST00000389195.2_Missense_Mutation_p.R168Q|LTN1_ENST00000389194.2_Missense_Mutation_p.R168Q NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 122 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TGTGGCTTCTCGGACGCGACG 0.358000 17 18 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35729256 35729256 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:35729256G>A ENST00000187397.4 + 6 743 c.287G>A c.(286-288)aGt>aAt p.S96N ARPP21_ENST00000337271.5_Missense_Mutation_p.S96N|ARPP21_ENST00000417925.1_Missense_Mutation_p.S96N|ARPP21_ENST00000458225.1_Missense_Mutation_p.S96N|ARPP21_ENST00000444190.1_Missense_Mutation_p.S96N NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 96 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CAGCTTTCCAGTTTTTCCAGC 0.363000 3 0 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14798250 14798250 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:14798250C>T ENST00000261170.3 - 16 1847 c.e16-1 NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTAAAACTTCCTGAATAGGAA 0.333000 22 21 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10613143 10613143 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:10613143C>T ENST00000547195.1 - 17 2419 c.1919G>A c.(1918-1920)gGg>gAg p.G640E MRVI1_ENST00000423302.2_Missense_Mutation_p.G731E|MRVI1_ENST00000545852.1_Missense_Mutation_p.G416E|MRVI1_ENST00000534266.2_Missense_Mutation_p.G416E|MRVI1_ENST00000436272.1_Missense_Mutation_p.G704E|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.G640E|MRVI1_ENST00000421747.1_Missense_Mutation_p.G722E|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000424001.1_Missense_Mutation_p.G416E|MRVI1_ENST00000527509.2_Missense_Mutation_p.G640E|MRVI1_ENST00000531107.1_Missense_Mutation_p.G723E|MRVI1_ENST00000541483.1_Missense_Mutation_p.G525E|MRVI1_ENST00000558540.1_Missense_Mutation_p.G416E|LYVE1_ENST00000531706.1_Intron NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 704 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GCTGCCTTTCCCATTGGGTGA 0.473000 2 2 0 0 1 0 0 TMEM161A 54929 broad.mit.edu 37 19 19243163 19243163 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:19243163G>A ENST00000162044.9 - 5 505 c.441C>T c.(439-441)tcC>tcT p.S147S TMEM161A_ENST00000450333.2_Intron|TMEM161A_ENST00000587583.2_Silent_p.S122S|TMEM161A_ENST00000592369.1_5'UTR NM_017814.2 NP_060284.1 Q9NX61 T161A_HUMAN transmembrane protein 161A 147 cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) AAGGATACATGGAGAAGGTCA 0.582000 52 62 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103048371 103048371 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:103048371G>A ENST00000375735.2 + 38 6105 c.5961G>A c.(5959-5961)acG>acA p.T1987T DYNC2H1_ENST00000398093.3_Silent_p.T1987T|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1987 AAA 2 (By similarity). T -> A (in SRPS3). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAAAATCAACGCTTTGGAGAA 0.393000 3 9 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41122769 41122769 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:41122769C>T ENST00000220772.3 - 3 1199 c.862G>A c.(862-864)Gac>Aac p.D288N SFRP1_ENST00000379845.3_Missense_Mutation_p.D152N NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 288 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) TTTTTCTTGTCCCACTTGTGG 0.517000 17 69 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022406 20022406 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:20022406G>A ENST00000440926.1 - 11 1459 c.989C>T c.(988-990)aCc>aTc p.T330I SLC18A1_ENST00000381608.4_Missense_Mutation_p.T330I|SLC18A1_ENST00000265808.7_Intron|SLC18A1_ENST00000519026.1_Intron|SLC18A1_ENST00000276373.5_Missense_Mutation_p.T330I|SLC18A1_ENST00000437980.1_Missense_Mutation_p.T330I NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 330 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) GGAGCACATGGTCTGCATCAT 0.617000 49 62 0 0 1 0 0 IGLV4-3 28786 broad.mit.edu 37 22 23214022 23214022 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:23214022G>A ENST00000390318.2 + 0 211 CAGAGACCAGGGAGGTCCCCC 0.572000 101 169 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43833312 43833312 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:43833312G>A ENST00000319294.6 + 4 565 c.534G>A c.(532-534)acG>acA p.T178T UBASH3A_ENST00000398367.1_Silent_p.T178T|UBASH3A_ENST00000291535.6_Silent_p.T178T NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 178 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CCTTCGCCACGGAAGCATCTC 0.622000 24 75 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 327884 327884 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:327884G>A ENST00000264819.4 - 4 359 c.349C>T c.(349-351)Cca>Tca p.P117S MIER2_ENST00000592722.1_5'UTR NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCATGTCTGGGAGGTTCGGG 0.617000 18 31 0 0 1 0 0 SNCG 6623 broad.mit.edu 37 10 88718536 88718536 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:88718536G>A ENST00000372017.3 + 1 124 c.82G>A c.(82-84)Gaa>Aaa p.E28K SNCG_ENST00000348795.4_Missense_Mutation_p.E28K NM_003087.2 NP_003078.2 O76070 SYUG_HUMAN synuclein, gamma (breast cancer-specific protein 1) 28 4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4). microtubule organizing center|perinuclear region of cytoplasm|spindle protein binding endometrium(1)|skin(1) 2 GGGGGTGACGGAAGCAGCTGA 0.592000 35 34 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265445 1265445 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:1265445G>A ENST00000447027.1 + 31 7402 c.7344G>A c.(7342-7344)acG>acA p.T2448T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2445T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2445 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.T2448T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAGCCACTACGACTGAGTCCA 0.672000 71 124 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749597 22749597 + RNA SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:22749597G>A ENST00000508166.1 + 0 1067 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AACAAGAAAGGAGAACTAGGT 0.383000 4 9 0 0 1 0 0 RSPO4 343637 broad.mit.edu 37 20 947858 947858 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:947858G>A ENST00000217260.4 - 3 464 c.368C>T c.(367-369)cCg>cTg p.P123L RSPO4_ENST00000400634.2_Missense_Mutation_p.P123L NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 123 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 AGTGCCCGGCGGGCAGGTGGG 0.647000 62 79 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76072103 76072103 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:76072103G>A ENST00000260045.3 - 3 320 c.215C>T c.(214-216)cCt>cTt p.P72L PRKRIR_ENST00000531878.1_5'UTR NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 72 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TGTCCTATAAGGACTCTGAAA 0.308000 16 33 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7661952 7661952 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:7661952C>T ENST00000572933.1 + 14 3651 c.2191C>T c.(2191-2193)Cgt>Tgt p.R731C DNAH2_ENST00000389173.2_Missense_Mutation_p.R731C Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 731 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CACGGAGTGCCGTATACATGC 0.527000 31 7 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123324046 123324046 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:123324046C>T ENST00000358487.5 - 4 696 c.424G>A c.(424-426)Gat>Aat p.D142N FGFR2_ENST00000359354.2_Missense_Mutation_p.D142N|FGFR2_ENST00000346997.2_Missense_Mutation_p.D142N|FGFR2_ENST00000351936.6_Missense_Mutation_p.D142N|FGFR2_ENST00000369061.4_Missense_Mutation_p.D142N|FGFR2_ENST00000369056.1_Missense_Mutation_p.D142N|FGFR2_ENST00000457416.2_Missense_Mutation_p.D142N|FGFR2_ENST00000360144.3_Missense_Mutation_p.D53N|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.D142N|FGFR2_ENST00000357555.5_Missense_Mutation_p.D53N|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369059.1_Intron NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 142 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CTGACAAAATCTTCCGCACCA 0.478000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 49 82 0 0 1 0 0 FLYWCH2 114984 broad.mit.edu 37 16 2946570 2946570 + Silent SNP C C T rs151309938 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:2946570C>T ENST00000396958.3 + 3 500 c.120C>T c.(118-120)tcC>tcT p.S40S FLYWCH2_ENST00000293981.6_Silent_p.S40S|FLYWCH2_ENST00000572006.1_Silent_p.S40S NM_001142500.1|NM_138439.2 NP_001135972.1|NP_612448.1 Q96CP2 FWCH2_HUMAN FLYWCH family member 2 40 central_nervous_system(1)|lung(3)|ovary(1)|skin(1) 6 GAAAGTTCTCCAAACTGGTCC 0.652000 50 138 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47746434 47746434 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:47746434C>T ENST00000273857.4 - 5 783 c.784G>A c.(784-786)Gaa>Aaa p.E262K CORIN_ENST00000502252.1_Missense_Mutation_p.E195K|CORIN_ENST00000504584.1_Missense_Mutation_p.E262K|CORIN_ENST00000505909.1_Missense_Mutation_p.E262K|CORIN_ENST00000508498.1_Missense_Mutation_p.E123K NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 262 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTTCCGTTTTCCTGCTGAGGT 0.378000 27 84 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121647371 121647371 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:121647371C>T ENST00000489711.1 + 15 1698 c.1310C>T c.(1309-1311)tCt>tTt p.S437F SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Missense_Mutation_p.S406F NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 437 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GAAAACAATTCTCTGTTGATA 0.428000 36 160 0 0 1 0 0 SLC26A1 10861 broad.mit.edu 37 4 985081 985081 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:985081C>T ENST00000361661.2 - 3 788 c.411G>A c.(409-411)gtG>gtA p.V137V SLC26A1_ENST00000398520.2_Silent_p.V137V|SLC26A1_ENST00000398516.2_Silent_p.V137V|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 137 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCTCCCGGTCCACCACCTGCC 0.647000 57 37 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80626239 80626239 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:80626239C>A ENST00000307624.3 - 15 1670 c.1642G>T c.(1642-1644)Gat>Tat p.D548Y ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 548 START. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AACCCATCATCAGGAGGATTC 0.398000 57 4 1.77355e-41 1.82772e-41 1 1 0 DNER 92737 broad.mit.edu 37 2 230231825 230231825 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:230231825C>T ENST00000341772.4 - 12 2000 c.1866G>A c.(1864-1866)tgG>tgA p.W622* NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 622 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GCCCGGACTTCCATTGGAGGT 0.483000 30 10 0 0 1 0 0 ACMSD 130013 broad.mit.edu 37 2 135630212 135630212 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:135630212G>A ENST00000356140.5 + 8 985 c.e8+1 ACMSD_ENST00000283054.4_Splice_Site|ACMSD_ENST00000392928.1_Splice_Site|AC016725.4_ENST00000537615.1_RNA|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA NM_138326.2 NP_612199.2 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) CATAGGAAAGGTAAGCCCAGT 0.478000 33 10 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21526164 21526164 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:21526164C>T ENST00000313654.9 + 70 9508 c.9267C>T c.(9265-9267)gcC>gcT p.A3089A LAMA3_ENST00000399516.3_Silent_p.A3033A|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.A1424A|LAMA3_ENST00000269217.6_Silent_p.A1480A NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3089 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACTGAGGGCCCGGGAGGGAA 0.493000 32 42 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209938 10209938 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:10209938C>T ENST00000418404.3 - 36 5467 c.5304G>A c.(5302-5304)atG>atA p.M1768I MYH13_ENST00000570743.1_Missense_Mutation_p.M1768I|MYH13_ENST00000252172.4_Missense_Mutation_p.M1768I Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1768 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCTCAGCCATCATGGCAGCCT 0.582000 43 3 0 0 1 0 0 CCL22 6367 broad.mit.edu 37 16 57397450 57397450 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:57397450G>A ENST00000219235.4 + 3 277 c.232G>A c.(232-234)Gat>Aat p.D78N NM_002990.4 NP_002981.2 O00626 CCL22_HUMAN chemokine (C-C motif) ligand 22 78 cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction extracellular space chemokine activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 GATCTGTGCCGATCCCAGAGT 0.542000 13 45 0 0 1 0 0 DAGLB 221955 broad.mit.edu 37 7 6476070 6476070 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:6476070C>T ENST00000297056.6 - 3 511 c.342G>A c.(340-342)ctG>ctA p.L114L DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000436575.1_Silent_p.L73L|DAGLB_ENST00000425398.2_Silent_p.L114L|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000421761.2_Intron NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 114 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) AGGCAGCCCCCAGAGAGGCCC 0.537000 80 73 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15053176 15053176 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:15053176G>A ENST00000248072.3 + 1 876 c.876G>A c.(874-876)agG>agA p.R292R NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) ACAGCCTGAGGAACAAGGACA 0.527000 38 63 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6081970 6081970 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:6081970C>T ENST00000409021.3 - 7 1620 c.1171G>A c.(1171-1173)Gat>Aat p.D391N JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D391N|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D226N|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D226N|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.D391N NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 391 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCTGCTCATCCCTCGTCAGG 0.592000 8 33 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44815477 44815477 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:44815477G>A ENST00000372262.3 - 8 1933 c.1533C>T c.(1531-1533)gcC>gcT p.A511A CDH22_ENST00000537909.1_Silent_p.A511A NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 511 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GGCCTGGCTTGGCATCCTCGC 0.617000 128 114 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692709 20692709 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:20692709A>G ENST00000315519.2 + 1 919 c.841A>G c.(841-843)Aca>Gca p.T281A NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TGTGAGCCCAACATCAGGGAA 0.453000 54 2 0 0 1 0 0 DIO1 1733 broad.mit.edu 37 1 54360058 54360058 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:54360058G>A ENST00000361921.3 + 1 199 c.175G>A c.(175-177)Gac>Aac p.D59N DIO1_ENST00000524406.1_Intron|DIO1_ENST00000388876.3_Missense_Mutation_p.D59N|DIO1_ENST00000322679.6_Missense_Mutation_p.D59N|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.D59N|DIO1_ENST00000525202.1_Intron NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 59 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 TTTCAGCCACGACAACTGGAT 0.532000 103 115 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45281316 45281316 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:45281316C>T ENST00000270279.3 + 1 191 c.128C>T c.(127-129)tCg>tTg p.S43L CBLC_ENST00000341505.4_Missense_Mutation_p.S43L NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 43 4H.|Cbl-PTB. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) AGTCCCCCTTCGCTGCGGGAC 0.741000 M AML 21 39 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7230914 7230914 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:7230914G>A ENST00000399464.2 - 2 587 c.572C>T c.(571-573)gCc>gTc p.A191V NEURL4_ENST00000315614.7_Missense_Mutation_p.A191V|NEURL4_ENST00000570460.1_Missense_Mutation_p.A191V NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTCCACGACGGCCCAGACACG 0.677000 28 3 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021092 5021092 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:5021092T>A ENST00000321543.1 + 1 880 c.880T>A c.(880-882)Tat>Aat p.Y294N NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCTATTGTCTATAGTGTCAG 0.453000 13 35 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96949076 96949076 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:96949076G>A ENST00000323853.5 - 34 4855 c.4778C>T c.(4777-4779)aCc>aTc p.T1593I SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1593 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 ATCCTTCTCGGTGCAGTGCAA 0.567000 48 13 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30136262 30136262 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:30136262G>A ENST00000376694.4 + 3 1132 c.663G>A c.(661-663)aaG>aaA p.K221K TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 221 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 CCCAGGTCAAGGAGCTGGAGG 0.547000 10 16 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176863138 176863138 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:176863138C>T ENST00000355472.5 + 12 1290 c.1122C>T c.(1120-1122)ctC>ctT p.L374L GRK6_ENST00000355958.5_Silent_p.L374L|GRK6_ENST00000393576.3_Silent_p.L340L|GRK6_ENST00000528793.1_Silent_p.L374L|GRK6_ENST00000507633.1_Silent_p.L374L NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 374 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGGCTGCCTCCTGTACGAGA 0.637000 41 3 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815682 43815682 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:43815682G>A ENST00000382031.1 + 5 2756 c.2725G>A c.(2725-2727)Gaa>Aaa p.E909K MAP1A_ENST00000399453.1_Missense_Mutation_p.E671K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E671K P78559 MAP1A_HUMAN microtubule-associated protein 1A 671 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGATGAGGAGGAAGAGGACGC 0.478000 16 5 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1484890 1484890 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:1484890G>A ENST00000297508.7 - 6 991 c.816C>T c.(814-816)tcC>tcT p.S272S MICALL2_ENST00000405088.4_Silent_p.S60S NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 272 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CCTTCTGTGGGGAACAGGAGG 0.682000 14 13 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102505055 102505055 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:102505055C>T ENST00000360184.4 + 59 11240 c.11076C>T c.(11074-11076)ctC>ctT p.L3692L RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3692 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CACCAGATCTCTGTTCCCGGG 0.453000 100 10 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157768008 157768008 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:157768008C>T ENST00000358292.3 - 7 991 c.940G>A c.(940-942)Gag>Aag p.E314K FCRL1_ENST00000368176.3_Missense_Mutation_p.E353K|FCRL1_ENST00000491942.1_Missense_Mutation_p.E353K|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 353 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TAGGTGAACTCTTGGGGTAGA 0.493000 3 48 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72132046 72132046 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:72132046G>A ENST00000265381.4 - 2 303 c.81C>T c.(79-81)gcC>gcT p.A27A NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 27 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GCTCCAGGTCGGCCTCCACCG 0.687000 3 6 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23953394 23953394 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:23953394C>T ENST00000379211.3 + 7 1186 c.637C>T c.(637-639)Ccc>Tcc p.P213S NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 213 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 TGAAAATATTCCCAGGACAAT 0.398000 37 7 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 764334 764334 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:764334C>T ENST00000528097.1 + 7 932 c.878C>T c.(877-879)tCc>tTc p.S293F TALDO1_ENST00000319006.3_Silent_p.F294F NM_006755.1 NP_006746.1 P37837 TALDO_HUMAN transaldolase 1 0 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) AGAAGTCTTTCCGTTGGTTGC 0.572000 27 34 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17548864 17548864 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:17548864G>A ENST00000005226.7 - 5 401 c.402C>T c.(400-402)atC>atT p.I134I USH1C_ENST00000318024.4_Silent_p.I134I|USH1C_ENST00000527020.1_Silent_p.I134I|USH1C_ENST00000527720.1_Silent_p.I103I NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 134 PDZ 1. 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 TGATCCGGACGATCTCGTCCC 0.552000 19 54 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460519 1460519 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:1460519G>A ENST00000359801.3 - 2 313 c.277C>T c.(277-279)Cct>Tct p.P93S SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000381630.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 93 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ATTACCCCAGGGAAGGAGCCA 0.468000 41 51 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38370059 38370059 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:38370059T>C ENST00000396884.2 - 4 1126 c.844A>G c.(844-846)Agc>Ggc p.S282G POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.S282G|POLR2F_ENST00000405557.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 282 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) ACCTCGTGGCTGATCTCACCA 0.617000 10 335 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171607827 171607827 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:171607827C>T ENST00000037502.5 - 2 699 c.640G>A c.(640-642)Gaa>Aaa p.E214K NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 214 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GACTTCAGTTCCTGGAAGGCC 0.438000 39 51 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97851967 97851967 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:97851967C>T ENST00000354565.2 + 1 426 c.426C>T c.(424-426)atC>atT p.I142I RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GACTGTGCATCCGGCTATTAA 0.393000 54 105 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35827096 35827096 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:35827096G>A ENST00000085219.5 + 4 636 c.570G>A c.(568-570)tcG>tcA p.S190S CD22_ENST00000419549.2_Silent_p.S18S|CD22_ENST00000270311.6_Silent_p.S70S|CD22_ENST00000544992.2_Silent_p.S190S|CD22_ENST00000594250.1_Silent_p.S190S|CD22_ENST00000341773.6_Silent_p.S190S|CD22_ENST00000536635.2_Silent_p.S190S NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 190 Ig-like C2-type 1. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTGTCACCTCGACCTCCTTGA 0.547000 36 45 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009192 201009192 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:201009192G>T ENST00000362061.3 - 44 5615 c.5389C>A c.(5389-5391)Ctg>Atg p.L1797M RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.L1778M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1797 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGGTGCCCAGGCCCCCTCGA 0.602000 28 66 3.6622e-26 3.77136e-26 1 1 0 PTGER1 5731 broad.mit.edu 37 19 14583464 14583464 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:14583464T>G ENST00000292513.3 - 3 1234 c.1117A>C c.(1117-1119)Aag>Cag p.K373Q NM_000955.2 NP_000946.2 P34995 PE2R1_HUMAN prostaglandin E receptor 1 (subtype EP1), 42kDa 373 integral to plasma membrane prostaglandin E receptor activity Alprostadil(DB00770)|Bimatoprost(DB00905)|Bupivacaine(DB00297)|Carboprost Tromethamine(DB00429) GGGCCGCCCTTGGCTCCGGCC 0.697000 3 4 0 0 1 0 0 TINF2 26277 broad.mit.edu 37 14 24709494 24709494 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:24709494T>C ENST00000267415.7 - 7 1445 c.1104A>G c.(1102-1104)ttA>ttG p.L368L TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Silent_p.L333L|TINF2_ENST00000558566.1_3'UTR NM_001099274.1 NP_001092744.1 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 368 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) TAGGAGGTAATAATGATAGTC 0.498000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 78 8 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226453309 226453309 + Silent SNP C C T rs144126698 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:226453309C>T ENST00000328205.5 - 10 1556 c.1011G>A c.(1009-1011)tcG>tcA p.S337S LIN9_ENST00000366801.1_Silent_p.S286S|LIN9_ENST00000481685.1_Silent_p.S302S NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 321 cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) TTCTCCACGGCGACTGTCCTA 0.313000 12 48 0 0 1 0 0 HLA-DQB1 3119 broad.mit.edu 37 6 32629825 32629825 + Missense_Mutation SNP C C T rs76620513 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:32629825C>T ENST00000399084.1 - 4 758 c.580G>A c.(580-582)Gaa>Aaa p.E194K HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.E194K|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.E194K|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Missense_Mutation_p.E104K|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.E194K P01920 DQB1_HUMAN major histocompatibility complex, class II, DQ beta 1 194 Beta-2.|Ig-like C1-type. E -> D (in dbSNP:rs9273952). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity breast(1)|large_intestine(1)|lung(1)|pancreas(1) 4 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGAGTCATTTCCAGCATCACC 0.567000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 69 48 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906455 164906455 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:164906455C>T ENST00000475390.1 - 2 2607 c.2164G>A c.(2164-2166)Ggt>Agt p.G722S SLITRK3_ENST00000241274.3_Missense_Mutation_p.G722S O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 722 Poly-Gly. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GGTCGaccaccacccccactt 0.572000 HNSCC(40;0.11) 55 34 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057032 9057032 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9057032G>A ENST00000397910.4 - 3 30617 c.30414C>T c.(30412-30414)tcC>tcT p.S10138S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10140 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTCAGCCATGGAAGAGGGAG 0.458000 7 6 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4945015 4945015 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:4945015C>G ENST00000321961.2 - 1 622 c.555G>C c.(553-555)gaG>gaC p.E185D MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTTCATGATCTCCAGGTGAA 0.517000 6 14 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586350 15586350 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:15586350C>T ENST00000292609.4 - 2 1260 c.1132_splice c.e2+1 p.L377_splice PGLYRP2_ENST00000340880.4_Splice_Site_p.L377_splice Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 377 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 CTTCCTCACCCAGGAAGGCCT 0.567000 75 122 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50810881 50810881 + Silent SNP C C T rs112599056 byFrequency TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:50810881C>T ENST00000263046.4 + 8 1352 c.1186C>T c.(1186-1188)Ctg>Ttg p.L396L TFAP2B_ENST00000393655.3_Silent_p.L387L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 387 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) CAGCCCCATCCTGGAGCCGGG 0.632000 74 69 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241700163 241700163 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:241700163G>A ENST00000498729.2 - 25 2609 c.2363C>T c.(2362-2364)cCc>cTc p.P788L KIF1A_ENST00000320389.7_Missense_Mutation_p.P779L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 779 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GCGGGGGAAGGGCCGCGTCTC 0.652000 22 4 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632954 143632954 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:143632954C>T ENST00000408955.2 + 1 696 c.629C>T c.(628-630)cCt>cTt p.P210L NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CTGATGACACCTTTCTGCCTG 0.502000 35 53 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117808727 117808727 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:117808727C>T ENST00000350763.4 - 17 5498 c.5087G>A c.(5086-5088)gGa>gAa p.G1696E TNC_ENST00000341037.4_Missense_Mutation_p.G1514E|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Missense_Mutation_p.G1241E|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Missense_Mutation_p.G1150E|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.G1333E|TNC_ENST00000340094.3_Missense_Mutation_p.G1332E NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1696 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GGATCGCCTTCCTTTGCTTAT 0.458000 64 86 0 0 1 0 0 TBC1D26 353149 broad.mit.edu 37 17 15641669 15641669 + Silent SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:15641669A>C ENST00000437605.2 + 7 605 c.355A>C c.(355-357)Aga>Cga p.R119R ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Silent_p.R119R|AC005324.6_ENST00000434017.1_RNA NM_178571.4 NP_848666.2 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 119 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) AGATATTGACAGAATCAAGTC 0.502000 47 66 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74481580 74481580 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:74481580G>A ENST00000323940.5 - 12 1211 c.966C>T c.(964-966)atC>atT p.I322I STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Silent_p.I361I|STRA6_ENST00000395105.4_Silent_p.I322I|STRA6_ENST00000449139.2_Silent_p.I322I|STRA6_ENST00000535552.1_Silent_p.I359I|STRA6_ENST00000423167.2_Silent_p.I313I|STRA6_ENST00000574278.1_Silent_p.I337I|STRA6_ENST00000416286.3_Silent_p.I314I NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 322 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 TCACCTTCTGGATAGTGGGTA 0.622000 9 1 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10785932 10785932 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:10785932C>A ENST00000361367.2 + 11 1788 c.1362C>A c.(1360-1362)ctC>ctA p.L454L NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 454 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CAGAGATTCTCAATAATGTGG 0.428000 21 35 7.26314e-15 7.44793e-15 1 1 0 FBXL13 222235 broad.mit.edu 37 7 102453803 102453803 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:102453803C>T ENST00000393772.2 - 19 2536 c.2110G>A c.(2110-2112)Gac>Aac p.D704N FBXL13_ENST00000313221.4_Missense_Mutation_p.D732N|FBXL13_ENST00000455112.2_Missense_Mutation_p.D687N|FBXL13_ENST00000436908.1_Missense_Mutation_p.D732N|FBXL13_ENST00000379305.3_Missense_Mutation_p.D704N|FBXL13_ENST00000379306.3_Missense_Mutation_p.D450N|FBXL13_ENST00000379308.3_Missense_Mutation_p.D687N|FBXL13_ENST00000456695.1_Missense_Mutation_p.D450N Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 732 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GCTGCTTGGTCTTCACTGCTG 0.398000 18 31 0 0 1 0 0 HMGN1 3150 broad.mit.edu 37 21 40715075 40715075 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr21:40715075G>A ENST00000380749.5 - 6 548 c.266C>T c.(265-267)tCt>tTt p.S89F HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000361263.4_Silent_p.L53L|HMGN1_ENST00000380747.1_Missense_Mutation_p.S105F|HMGN1_ENST00000380748.1_Missense_Mutation_p.S79F NM_004965.6 NP_004956.5 P05114 HMGN1_HUMAN high mobility group nucleosome binding domain 1 89 positive regulation of transcription elongation, DNA-dependent chromatin|cytoplasm|nucleus DNA binding breast(2)|lung(1) 3 Prostate(19;8.69e-07) TGCTTCATCAGAGGCTGGACT 0.368000 22 51 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60864340 60864340 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:60864340C>T ENST00000313733.3 + 12 1405 c.1203C>T c.(1201-1203)gaC>gaT p.D401D OSBPL2_ENST00000358053.2_Silent_p.D389D|OSBPL2_ENST00000439951.2_Intron NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 401 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CACCCACGGACTGCCGCCTGC 0.597000 16 21 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120941789 120941789 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:120941789C>T ENST00000288532.6 - 6 906 c.866G>A c.(865-867)cGa>cAa p.R289Q COQ5_ENST00000445328.2_Missense_Mutation_p.R215Q NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 289 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGAAACCTTCGGATACTCTC 0.458000 19 131 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238296530 238296530 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:238296530C>T ENST00000295550.4 - 4 1459 c.1007G>A c.(1006-1008)cGg>cAg p.R336Q COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.R130Q|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.R130Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R336Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R130Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 336 Nonhelical region.|VWFA 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCCCCCTGCCCGGGTGAAGTG 0.627000 5 25 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132276161 132276161 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:132276161C>T ENST00000438378.2 + 0 1822 NR_026922.1 CTGGGAGCTTCCTGTCACCCT 0.602000 10 0 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38418314 38418314 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:38418314G>A ENST00000322350.5 + 12 1987 c.1641G>A c.(1639-1641)atG>atA p.M547I EGFLAM_ENST00000336740.6_Missense_Mutation_p.M313I|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.M547I NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 547 Laminin G-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GAATTGACATGAGGCCCTGGC 0.562000 30 10 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52252245 52252245 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:52252245G>A ENST00000356297.4 - 21 4185 c.4085C>T c.(4084-4086)tCc>tTc p.S1362F PXDNL_ENST00000543296.1_Intron NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1362 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GAAATCTTGGGAGAACTTTGT 0.373000 37 55 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033937 52033937 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:52033937G>A ENST00000346477.3 - 3 772 c.704C>T c.(703-705)tCc>tTc p.S235F SIGLEC6_ENST00000343300.4_Missense_Mutation_p.S235F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.S224F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.S199F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.S235F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.S235F NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 235 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GCACTCACAGGAGACATTGAG 0.632000 51 79 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28595741 28595741 + Silent SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:28595741C>A ENST00000253063.3 + 2 459 c.138C>A c.(136-138)gcC>gcA p.A46A NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 46 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCAGCGCCTTCATCCCCG 0.557000 18 57 1.96292e-10 2.00155e-10 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89351844 89351844 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:89351844T>C ENST00000301030.4 - 9 1566 c.1106A>G c.(1105-1107)aAg>aGg p.K369R ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 369 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCTGTAGTCCTTTTTCAATAG 0.453000 3 152 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183852941 183852941 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:183852941C>T ENST00000304685.3 + 7 1198 c.737C>T c.(736-738)tCc>tTc p.S246F RGL1_ENST00000367531.1_Missense_Mutation_p.S246F|RGL1_ENST00000539189.1_Missense_Mutation_p.S211F|RGL1_ENST00000360851.3_Missense_Mutation_p.S211F|RGL1_ENST00000536277.1_Missense_Mutation_p.S209F NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 211 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 AACACGATCTCCTTCAGCCTG 0.463000 13 52 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450359 105450359 + Missense_Mutation SNP A A C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:105450359A>C ENST00000337685.2 + 5 1719 c.934A>C c.(934-936)Agt>Cgt p.S312R MUM1L1_ENST00000372552.1_Missense_Mutation_p.S312R|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S312R NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 312 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATGCCCTGGGAGTTGTTCAAG 0.458000 6 3 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39373934 39373934 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:39373934C>T ENST00000326306.4 + 2 250 c.112C>T c.(112-114)Ctt>Ttt p.L38F CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 38 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CAAGTTGCTCCTTGCTGTCTT 0.478000 70 7 0 0 1 0 0 RASSF2 9770 broad.mit.edu 37 20 4771127 4771127 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:4771127G>A ENST00000379400.3 - 7 702 c.507C>T c.(505-507)ttC>ttT p.F169F RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.F169F NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 169 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 CGTTGATGGAGAAGCGGTGGC 0.602000 28 53 0 0 1 0 0 ATPAF1 64756 broad.mit.edu 37 1 47108892 47108892 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:47108892T>C ENST00000576409.1 - 8 897 c.835A>G c.(835-837)Act>Gct p.T279A ATPAF1_ENST00000532925.1_Missense_Mutation_p.T168A|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000371937.4_Missense_Mutation_p.T256A|ATPAF1_ENST00000542495.1_Missense_Mutation_p.T105A Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 256 protein complex assembly mitochondrion protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Acute lymphoblastic leukemia(166;0.155) ATTTCTGCAGTCATCAGCACT 0.433000 5 40 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185198317 185198317 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:185198317G>A ENST00000265026.3 + 13 3133 c.2799_splice c.e13+1 p.E933_splice MAP3K13_ENST00000443863.1_Splice_Site_p.E789_splice|MAP3K13_ENST00000424227.1_Splice_Site_p.E933_splice|MAP3K13_ENST00000535426.1_Splice_Site_p.E789_splice|MAP3K13_ENST00000446828.1_Splice_Site_p.E726_splice|TMEM41A_ENST00000475480.1_Intron NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 933 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GTGGCTATGAGGTGGGGGCTT 0.507000 38 53 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43762266 43762266 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:43762266G>A ENST00000244293.7 - 4 1118 c.1052C>T c.(1051-1053)cCc>cTc p.P351L PSG9_ENST00000270077.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.P258L|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 0 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) ACACAGGCTGGGAATAAAAAT 0.448000 19 26 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974684 21974684 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:21974684G>A ENST00000304494.5 - 1 413 c.143C>T c.(142-144)cCg>cTg p.P48L CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000530628.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 48 P -> L (in CMM2 and a head and neck tumor; somatic mutation). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CACCTGGATCGGCCTCCGACC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 104 27 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995477 140995477 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:140995477C>T ENST00000285879.4 + 4 2573 c.2287C>T c.(2287-2289)Cct>Tct p.P763S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 763 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCCTGAGAGTCCTCAGAGTCC 0.542000 HNSCC(15;0.026) 95 13 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18257756 18257756 + Silent SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:18257756A>T ENST00000286479.3 + 2 350 c.243A>T c.(241-243)acA>acT p.T81T NAT2_ENST00000520116.1_Intron NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 81 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) CTCTGACCACAATCGGTTTTC 0.468000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 19 76 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66472843 66472843 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:66472843G>A ENST00000533211.1 - 15 2235 c.1904C>T c.(1903-1905)gCc>gTc p.A635V SPTBN2_ENST00000309996.2_Missense_Mutation_p.A635V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A635V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 635 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTCCAGCCGGGCCCGCCGCGC 0.672000 6 40 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950337 235950337 + Silent SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:235950337T>C ENST00000409212.1 + 4 1431 c.924T>C c.(922-924)ggT>ggC p.G308G SH3BP4_ENST00000392011.2_Silent_p.G308G|SH3BP4_ENST00000344528.4_Silent_p.G308G Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 308 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AAAGCCCTGGTTGGGGCCAGA 0.592000 8 48 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110913 55110913 + Silent SNP G G A rs142044895 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:55110913G>A ENST00000314721.2 + 1 287 c.237G>A c.(235-237)ttG>ttA p.L79L NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CACCCAAATTGATGATAGACT 0.448000 25 28 0 0 1 0 0 LTB 4050 broad.mit.edu 37 6 31550142 31550142 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31550142G>A ENST00000429299.2 - 1 60 c.53C>T c.(52-54)tCc>tTc p.S18F LTB_ENST00000446745.2_Missense_Mutation_p.S18F|LTB_ENST00000483972.1_Intron NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 18 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) TAGCAGGAGGGAACCCCTCCC 0.637000 15 33 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189164 140189164 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140189164G>T ENST00000356878.4 + 1 2493 c.2392G>T c.(2392-2394)Gta>Tta p.V798L PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_031500.1 NP_113688.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGGTTAGTGTATAACATCC 0.388000 63 15 5.88917e-42 6.07334e-42 1 1 0 APC2 10297 broad.mit.edu 37 19 1462005 1462005 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:1462005C>T ENST00000535453.1 + 13 3395 c.1682C>T c.(1681-1683)tCt>tTt p.S561F APC2_ENST00000233607.2_Missense_Mutation_p.S561F|APC2_ENST00000238483.4_Missense_Mutation_p.S287F|CTB-25B13.12_ENST00000588225.1_RNA|C19orf25_ENST00000588427.1_Intron O95996 APC2_HUMAN adenomatosis polyposis coli 2 561 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAATCTGTCTGCACACAGC 0.647000 26 39 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85970858 85970858 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:85970858C>T ENST00000372117.3 + 13 1525 c.1422C>T c.(1420-1422)tcC>tcT p.S474S CDHR1_ENST00000332904.3_Silent_p.S474S|CDHR1_ENST00000440770.2_Intron NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 474 Cadherin 5. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 AGTTCGACTCCCTCTACTACG 0.582000 50 66 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2597726 2597726 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:2597726C>T ENST00000358864.1 + 16 1964 c.1949C>T c.(1948-1950)tCc>tTc p.S650F TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 650 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGGATGGGCTCCTTCTATGCT 0.572000 32 51 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491323 151491323 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:151491323G>A ENST00000271636.7 + 2 461 c.328G>A c.(328-330)Gga>Aga p.G110R NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 104 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity p.G110R(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TCAGGTCAAGGGATTTCCTGC 0.587000 12 7 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9585962 9585962 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9585962G>A ENST00000301480.4 - 3 241 c.28C>T c.(28-30)Cag>Tag p.Q10* NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CTGCATACCTGATAACAATTT 0.408000 24 21 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596496 24596496 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:24596496C>T ENST00000535378.1 - 4 1021 c.379G>A c.(379-381)Gat>Aat p.D127N KIAA0319_ENST00000537886.1_Missense_Mutation_p.D136N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D136N|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D91N|KIAA0319_ENST00000378214.3_Missense_Mutation_p.D136N NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 136 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TTTCTGATATCCTCAGGTGAG 0.567000 29 58 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167149779 167149779 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:167149779G>A ENST00000375387.4 - 9 1412 c.1072C>T c.(1072-1074)Cta>Tta p.L358L AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.L357L|SCN9A_ENST00000409435.1_Silent_p.L357L|SCN9A_ENST00000303354.6_Silent_p.L358L Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 357 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGGGTCATTAGCCTAAACAAG 0.433000 4 1 0 0 1 0 0 BLOC1S3 388552 broad.mit.edu 37 19 45683139 45683139 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:45683139G>A ENST00000433642.2 + 2 681 c.585G>A c.(583-585)gaG>gaA p.E195E BLOC1S3_ENST00000587722.1_Silent_p.E195E|AC005779.2_ENST00000593083.1_Silent_p.E20E NM_212550.3 NP_997715.1 Q6QNY0 BL1S3_HUMAN biogenesis of lysosomal organelles complex-1, subunit 3 195 cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport BLOC-1 complex identical protein binding ovary(1)|skin(1) 2 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CCGAGCCTGAGAAAGACCCGG 0.667000 Hermansky-Pudlak syndrome 24 31 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508414 37508414 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:37508414G>A ENST00000374660.1 + 40 4062 c.3963G>A c.(3961-3963)agG>agA p.R1321R ANKRD30A_ENST00000602533.1_Silent_p.R1202R|ANKRD30A_ENST00000361713.1_Silent_p.R1202R Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1258 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGCTCAAAGGAAATCCAAAA 0.368000 3 5 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768115 57768115 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:57768115C>T ENST00000371030.2 + 1 2041 c.2041C>T c.(2041-2043)Cat>Tat p.H681Y NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 681 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GACCCCTGTCCATGAGGACAT 0.617000 11 13 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553703 19553703 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:19553703G>A ENST00000409832.3 + 1 339 c.287G>A c.(286-288)aGc>aAc p.S96N NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 96 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 ACACTCAGGAGCAAGATGGGC 0.612000 20 606 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632953 143632953 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:143632953C>T ENST00000408955.2 + 1 695 c.628C>T c.(628-630)Cct>Tct p.P210S NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCTGATGACACCTTTCTGCCT 0.507000 34 53 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102478657 102478657 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:102478657C>T ENST00000360184.4 + 34 7028 c.6864C>T c.(6862-6864)atC>atT p.I2288I NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2288 AAA 2 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CCAGGATCATCGACAGCGTGA 0.448000 49 7 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32154610 32154610 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:32154610C>T ENST00000375050.4 - 7 1363 c.1093G>A c.(1093-1095)Gat>Aat p.D365N NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 365 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GAATAGGAATCTCCGTTGAGC 0.512000 49 46 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18301315 18301315 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:18301315G>A ENST00000441493.2 - 26 4464 c.4112C>T c.(4111-4113)tCc>tTc p.S1371F NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1371 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) ATCCTGGGGGGACTTTTCAAC 0.637000 116 151 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749088 22749088 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:22749088C>T ENST00000508166.1 + 0 558 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GCTTCAGTACCTTTGGGGATC 0.423000 42 22 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781894 128781894 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:128781894G>A ENST00000529694.1 + 2 1102 c.726G>A c.(724-726)cgG>cgA p.R242R KCNJ5_ENST00000533599.1_Silent_p.R242R|KCNJ5_ENST00000338350.4_Silent_p.R242R NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 242 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCAAGTCCCGGCAGACCAAAG 0.612000 51 8 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1953652 1953652 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:1953652C>T ENST00000382722.5 - 25 2748 c.2386G>A c.(2386-2388)Gac>Aac p.D796N CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.D732N|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.D771N|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.D796N|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.D732N|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.D657N NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 796 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GGGAAGCGGTCCAGGGTGAAC 0.597000 16 15 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141768492 141768492 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:141768492G>A ENST00000475668.2 + 43 5104 c.5050G>A c.(5050-5052)Gat>Aat p.D1684N MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1684 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCGTTGGTACGATTACTACAC 0.428000 18 42 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177199087 177199087 + Silent SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:177199087G>T ENST00000361539.4 + 2 387 c.75G>T c.(73-75)ctG>ctT p.L25L NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 25 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGCTGGCACTGGGCCTGCCTG 0.672000 7 28 5.18039e-06 5.23086e-06 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201627 248201627 + Missense_Mutation SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:248201627T>C ENST00000366479.2 + 1 154 c.58T>C c.(58-60)Tca>Cca p.S20P OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GTTCCCACAATCAAGAATTGG 0.378000 69 85 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15053175 15053175 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:15053175G>T ENST00000248072.3 + 1 875 c.875G>T c.(874-876)aGg>aTg p.R292M NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R292K(1) large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) TACAGCCTGAGGAACAAGGAC 0.532000 37 64 2.52991e-16 2.59611e-16 1 1 0 COPS7A 50813 broad.mit.edu 37 12 6839855 6839855 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:6839855C>T ENST00000543155.1 + 7 1139 c.657C>T c.(655-657)acC>acT p.T219T COPS7A_ENST00000538410.1_Intron|COPS7A_ENST00000229251.3_Silent_p.T219T|COPS7A_ENST00000534947.1_Silent_p.T219T|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000534877.1_Silent_p.T219T|COPS7A_ENST00000539735.1_Silent_p.T219T NM_001164094.1 NP_001157566.1 Q9UBW8 CSN7A_HUMAN COP9 signalosome subunit 7A 219 cullin deneddylation cytoplasm|signalosome endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 10 TTAAAAAAACCATTAAAGTTA 0.547000 15 15 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94049585 94049585 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:94049585C>G ENST00000297268.6 + 35 2591 c.2120C>G c.(2119-2121)cCt>cGt p.P707R NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 707 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) cctgctggtcctCGGGGAAGC 0.453000 HNSCC(75;0.22) 15 50 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80772794 80772794 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:80772794G>A ENST00000355528.4 + 13 1432 c.1302G>A c.(1300-1302)ccG>ccA p.P434P TBCD_ENST00000539345.2_Silent_p.P434P|TBCD_ENST00000397466.2_Silent_p.P48P NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 434 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TGTTGCTGCCGTCTCGACTCG 0.627000 3 27 0 0 1 0 0 ADK 132 broad.mit.edu 37 10 76468180 76468180 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:76468180C>T ENST00000372734.3 + 11 1202 c.1015C>T c.(1015-1017)Cct>Tct p.P339S ADK_ENST00000286621.2_Missense_Mutation_p.P356S|ADK_ENST00000539909.1_Missense_Mutation_p.P299S|ADK_ENST00000541550.1_Missense_Mutation_p.P321S NM_001123.3|NM_001202449.1 NP_001114.2|NP_001189378.1 P55263 ADK_HUMAN adenosine kinase 356 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 8 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811) CTGCACCTTTCCTGAGAAGCC 0.473000 13 18 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102265162 102265162 + Nonsense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:102265162T>A ENST00000370345.3 - 10 1232 c.1135A>T c.(1135-1137)Aaa>Taa p.K379* SEC31B_ENST00000451524.1_Nonsense_Mutation_p.K379* NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 379 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TTGGGGGGTTTTTTCAGGGGA 0.507000 113 138 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116101408 116101408 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:116101408C>T ENST00000410059.1 + 3 671 c.191C>T c.(190-192)tCg>tTg p.S64L DPP10_ENST00000409163.1_Missense_Mutation_p.S14L|DPP10_ENST00000310323.8_Missense_Mutation_p.S57L|DPP10_ENST00000393147.2_Missense_Mutation_p.S68L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 64 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CTCACAAATTCGTCAGAAACC 0.348000 5 44 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14508048 14508048 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:14508048C>T ENST00000454876.2 + 7 1086 c.757C>T c.(757-759)Cca>Tca p.P253S SLC6A6_ENST00000360861.3_Missense_Mutation_p.P253S P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 253 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 AGCCACTTTTCCATTCGCCAT 0.592000 96 20 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65147339 65147339 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:65147339G>A ENST00000417511.2 - 7 1160 c.27_splice c.e7+1 p.S9_splice SLC25A45_ENST00000526432.1_Splice_Site_p.S51_splice|SLC25A45_ENST00000527174.1_Splice_Site_p.S51_splice|SLC25A45_ENST00000377152.2_Splice_Site_p.S9_splice|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000294187.6_Splice_Site_p.S9_splice|SLC25A45_ENST00000398802.1_Splice_Site_p.S51_splice NM_001278251.1 NP_001265180.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 51 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 GCCACTCACGGACTCATGGCG 0.612000 34 26 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167240194 167240194 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:167240194C>T ENST00000308378.3 - 12 1932 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K WDR49_ENST00000476376.1_Missense_Mutation_p.E368K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 543 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 AAAGAAATTTCCTTTTGAATC 0.318000 11 20 0 0 1 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98774978 98774978 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:98774978C>T ENST00000407474.3 + 4 1602 c.1089C>T c.(1087-1089)tcC>tcT p.S363S Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 0 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding CTGTGACATCCCGTTCTCTGA 0.413000 16 13 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9406613 9406613 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9406613G>A ENST00000591998.1 - 6 1695 c.1467C>T c.(1465-1467)tcC>tcT p.S489S ZNF699_ENST00000308650.3_Silent_p.S489S Q32M78 ZN699_HUMAN zinc finger protein 699 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTTCGGTGAGGGATGAGGAAC 0.443000 17 30 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209823368 209823368 + Nonsense_Mutation SNP G G A rs121912481 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:209823368G>A ENST00000391911.1 - 2 513 c.124C>T c.(124-126)Cga>Tga p.R42* LAMB3_ENST00000356082.4_Nonsense_Mutation_p.R42*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.R42* NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 42 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GATGAAGCTCGGAGAAACCGG 0.617000 19 84 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390696 61390696 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:61390696C>T ENST00000544088.1 + 0 1304 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CTGTGACTTTCCCACGGCCAA 0.483000 7 6 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638908 55638908 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:55638908T>A ENST00000370830.3 - 4 1664 c.966A>T c.(964-966)aaA>aaT p.K322N BMP5_ENST00000446683.2_Missense_Mutation_p.K322N NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 322 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GGTTTTGATTTTTTCGTTTGT 0.473000 19 38 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43098319 43098319 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:43098319C>T ENST00000230419.4 + 5 953 c.732C>T c.(730-732)ttC>ttT p.F244F PTK7_ENST00000352931.2_Silent_p.F244F|PTK7_ENST00000345201.2_Silent_p.F244F|PTK7_ENST00000349241.2_Silent_p.F244F|PTK7_ENST00000471863.1_Silent_p.F244F|PTK7_ENST00000481273.1_Silent_p.F252F NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 244 Ig-like C2-type 3. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGGCCATGTTCCATTGCCAGT 0.592000 46 30 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330475 125330475 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:125330475G>A ENST00000304865.2 - 1 363 c.282C>T c.(280-282)tcC>tcT p.S94S NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ACCCAGCATAGGAGATGGTCT 0.463000 22 38 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002537 98002537 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:98002537C>T ENST00000355273.2 + 1 806 c.806C>T c.(805-807)tCt>tTt p.S269F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CGCCCTGCATCTCCACAAGCA 0.393000 24 30 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85992034 85992034 + Missense_Mutation SNP C C G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:85992034C>G ENST00000372105.3 - 4 1542 c.1521G>C c.(1519-1521)aaG>aaC p.K507N NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 507 Fibronectin type-III. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 CACACTGCTCCTTCCGGGGCA 0.542000 12 17 0 0 1 0 0 DUPD1 338599 broad.mit.edu 37 10 76797614 76797614 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:76797614C>T ENST00000338487.5 - 3 642 c.643G>A c.(643-645)Gag>Aag p.E215K NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 215 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CTGCCATCCTCCTCCTCACCG 0.652000 40 60 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27309061 27309061 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:27309061C>T ENST00000397497.4 + 18 2146 c.1695C>T c.(1693-1695)ctC>ctT p.L565L PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000544172.1_Intron|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000397501.1_Intron|PTK2B_ENST00000338238.4_Intron|PTK2B_ENST00000346049.5_Intron Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 0 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GGGGTTTCCTCTTGGCACCTT 0.592000 20 44 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46658651 46658651 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:46658651C>T ENST00000544460.1 + 1 3040 c.2786C>T c.(2785-2787)tCa>tTa p.S929L TDRD6_ENST00000316081.6_Missense_Mutation_p.S929L NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 929 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GCTCTGGCTTCAATTAATGAA 0.333000 29 86 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580675 40580675 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:40580675T>A ENST00000450241.2 - 6 1883 c.1572A>T c.(1570-1572)gaA>gaT p.E524D ZNF780A_ENST00000455521.1_Missense_Mutation_p.E559D|ZNF780A_ENST00000340963.5_Missense_Mutation_p.E558D|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.E558D|ZNF780A_ENST00000594395.1_Missense_Mutation_p.E559D|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ATTCCTTACATTCAAAGGGTT 0.383000 66 78 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A rs28934573 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:7577559G>A ENST00000420246.2 - 7 854 c.722C>T c.(721-723)tCc>tTc p.S241F TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCATGCAGGAACTGTTACA 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 70 9 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608238 84608238 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:84608238C>T ENST00000344803.2 + 4 2900 c.2853C>T c.(2851-2853)atC>atT p.I951I NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCACCTTCATCTCTCAGGGAG 0.478000 30 44 0 0 1 0 0 GALR1 2587 broad.mit.edu 37 18 74980740 74980740 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:74980740G>A ENST00000299727.3 + 3 932 c.932G>A c.(931-933)aGg>aAg p.R311K NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 311 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GAAAATTTCAGGAAGGCCTAT 0.448000 13 35 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554823 150554823 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:150554823C>T ENST00000493429.1 + 4 1849 c.1265C>T c.(1264-1266)cCc>cTc p.P422L AOC1_ENST00000416793.2_Missense_Mutation_p.P422L|AOC1_ENST00000360937.4_Missense_Mutation_p.P422L|AOC1_ENST00000467291.1_Missense_Mutation_p.P422L amine oxidase, copper containing 1 TTTGAAATGCCCACAGGGGTG 0.572000 31 39 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4215446 4215446 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:4215446C>T ENST00000404826.2 + 34 5115 c.4976C>T c.(4975-4977)tCg>tTg p.S1659L SDK1_ENST00000389531.3_Intron NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1659 Fibronectin type-III 10. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGCTCCACATCGACGATGTGT 0.587000 76 145 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148855983 148855983 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:148855983C>T ENST00000367467.3 + 16 2516 c.2041C>T c.(2041-2043)Ccg>Tcg p.P681S NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 681 SAM 1. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TATCAGGGACCCGGAACACAG 0.483000 34 9 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43218408 43218408 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:43218408G>A ENST00000263245.5 - 9 899 c.680C>T c.(679-681)gCc>gTc p.A227V ARFGAP3_ENST00000429508.2_Missense_Mutation_p.A155V|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.A183V NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 227 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TCCTTTTTTGGCCCCAAGCTA 0.423000 58 68 0 0 1 0 0 MSTN 2660 broad.mit.edu 37 2 190922019 190922019 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:190922019G>A ENST00000260950.4 - 3 1225 c.1093C>T c.(1093-1095)Cca>Tca p.P365S C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 365 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.P365S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) ACCATCGCTGGAATTTTCCCA 0.403000 18 3 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21097533 21097533 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:21097533G>A ENST00000377122.4 - 26 3063 c.2667C>T c.(2665-2667)ttC>ttT p.F889F NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 889 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GACCTGTACCGAAAGTACTGC 0.463000 35 48 0 0 1 0 0 GKN2 200504 broad.mit.edu 37 2 69172503 69172503 + Silent SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:69172503A>G ENST00000328895.4 - 6 660 c.552T>C c.(550-552)gtT>gtC p.V184V GKN2_ENST00000481498.1_3'UTR NM_182536.2 NP_872342.2 Q86XP6 GKN2_HUMAN gastrokine 2 184 extracellular region autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 AATCATCCTAAACATGAATGT 0.393000 146 29 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957468 35957468 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:35957468G>A ENST00000274278.3 - 5 1254 c.897C>T c.(895-897)gcC>gcT p.A299A UGT3A1_ENST00000503189.1_Silent_p.A299A|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Silent_p.A265A NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 299 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGGAGCCAAAGGCCACAAGGA 0.493000 32 10 0 0 1 0 0 RPGR 6103 broad.mit.edu 37 X 38150211 38150211 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:38150211C>T ENST00000378505.2 - 13 1749 c.e13+1 RPGR_ENST00000309513.3_Splice_Site|RPGR_ENST00000339363.3_Splice_Site|RPGR_ENST00000318842.7_Splice_Site|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Splice_Site|RPGR_ENST00000338898.3_Splice_Site NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TCATATTATACCTTTTGTTTC 0.269000 11 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065398 9065398 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9065398A>T ENST00000397910.4 - 3 22251 c.22048T>A c.(22048-22050)Tcc>Acc p.S7350T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7352 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATTACCAAGGAGGGAGTGGTT 0.488000 13 21 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157766891 157766891 + Splice_Site SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:157766891C>T ENST00000358292.3 - 9 1142 c.1091_splice c.e9+1 p.R364_splice FCRL1_ENST00000368176.3_Splice_Site_p.K406_splice|FCRL1_ENST00000491942.1_Splice_Site_p.K405_splice|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 0 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGACTCTTACCTTGTCCTCCA 0.393000 36 34 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058672 9058672 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:9058672G>T ENST00000397910.4 - 3 28977 c.28774C>A c.(28774-28776)Cag>Aag p.Q9592K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9594 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGATGTCCTGGGAGGTTCTG 0.522000 7 12 1.12685e-05 1.13625e-05 1 1 0 HMGB4 127540 broad.mit.edu 37 1 34330046 34330046 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:34330046G>A ENST00000522796.1 + 4 2159 c.254G>A c.(253-255)cGg>cAg p.R85Q HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.R85Q B2R4X7 B2R4X7_HUMAN high mobility group box 4 85 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGGAAGAAACGGAGAAAGCGG 0.502000 53 49 0 0 1 0 0 BLVRA 644 broad.mit.edu 37 7 43843289 43843289 + Nonsense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:43843289G>T ENST00000402924.1 + 8 638 c.475G>T c.(475-477)Gaa>Taa p.E159* BLVRA_ENST00000265523.4_Nonsense_Mutation_p.E159* NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 159 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) CCCGTTGGAAGAAGAGCGGTT 0.587000 127 305 2.65394e-64 2.74279e-64 1 1 0 ING2 3622 broad.mit.edu 37 4 184432007 184432007 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:184432007C>T ENST00000302327.3 + 2 947 c.745C>T c.(745-747)Cca>Tca p.P249S ING2_ENST00000434682.2_Missense_Mutation_p.P209S NM_001564.2 NP_001555.1 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 249 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TACCTATAAACCAAAGGGGAA 0.383000 17 39 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107568638 107568638 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:107568638G>A ENST00000374736.3 - 31 4742 c.4348C>T c.(4348-4350)Cag>Tag p.Q1450* NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1450 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTCCCATTCTGGAAGAGGTCC 0.582000 10 19 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97096387 97096387 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:97096387G>A ENST00000371247.2 - 30 3719 c.3530C>T c.(3529-3531)cCc>cTc p.P1177L SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1177L|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P1036L|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P1036L|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P1131L|SORBS1_ENST00000371239.1_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1177 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GGGCTTGCCGGGCCGGCTCTC 0.587000 51 79 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766995 57766995 + Silent SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:57766995G>C ENST00000371030.2 + 1 921 c.921G>C c.(919-921)ccG>ccC p.P307P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 307 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGAAGTCGCCGACCGCCGGGA 0.701000 12 24 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38411978 38411978 + Translation_Start_Site SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:38411978C>A ENST00000373023.2 - 2 96 c.3G>T c.(1-3)atG>atT p.M1I INPP5B_ENST00000373024.3_Start_Codon_SNP_p.M1I|INPP5B_ENST00000373021.1_Start_Codon_SNP_p.M1I|INPP5B_ENST00000373026.1_Start_Codon_SNP_p.M1I NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 1 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CAGACTGGTCCATGCTGGCCC 0.617000 11 23 4.93089e-13 5.04564e-13 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129722452 129722452 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:129722452C>T ENST00000421865.2 + 38 5578 c.5529C>T c.(5527-5529)aaC>aaT p.N1843N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1843 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATGAAGCCAACCGTCTTGCAG 0.403000 14 32 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122259599 122259599 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:122259599G>A ENST00000462315.1 - 8 1778 c.1485C>T c.(1483-1485)gcC>gcT p.A495A PARP9_ENST00000360356.2_Silent_p.A530A|PARP9_ENST00000477522.2_Silent_p.A495A|PARP9_ENST00000492382.1_Silent_p.A75A|PARP9_ENST00000471785.1_Silent_p.A495A NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 530 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TCCATGCGTGGGCCTCATACA 0.453000 77 115 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150745996 150745996 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:150745996G>A ENST00000357922.4 + 1 618 c.24G>A c.(22-24)gaG>gaA p.E8E ASIC3_ENST00000349064.5_Silent_p.E8E|ASIC3_ENST00000297512.8_Silent_p.E8E NM_020322.3 NP_064718.1 Q9UHC3 ACCN3_HUMAN acid-sensing (proton-gated) ion channel 3 8 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CAGGCCCAGAGGAGGCCCGGC 0.672000 33 101 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112455697 112455697 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:112455697C>T ENST00000230538.7 - 26 3926 c.3529G>A c.(3529-3531)Gga>Aga p.G1177R LAMA4_ENST00000389463.4_Missense_Mutation_p.G1170R|LAMA4_ENST00000424408.2_Missense_Mutation_p.G1170R|LAMA4_ENST00000522006.1_Missense_Mutation_p.G1170R NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1177 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GGAGGAGCTCCTCCAATGTAT 0.398000 9 6 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134016275 134016275 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:134016275C>T ENST00000338492.4 + 12 1571 c.1407C>T c.(1405-1407)gtC>gtT p.V469V DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 469 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCCGCTTCGTCCCTCGGAAAA 0.642000 43 44 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982674 7982674 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:7982674G>A ENST00000328600.2 - 2 646 c.485C>T c.(484-486)cCc>cTc p.P162L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 162 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCCAGTGAGGGCTTTTCCCC 0.577000 13 16 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196599658 196599658 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:196599658C>T ENST00000409086.3 + 10 2664 c.2389C>T c.(2389-2391)Cct>Tct p.P797S SLC39A10_ENST00000359634.5_Missense_Mutation_p.P797S|SLC39A10_ENST00000541054.1_Missense_Mutation_p.P347S NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 797 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TGGCTTTTGTCCTGTGGGGCA 0.368000 4 92 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8620608 8620608 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:8620608G>A ENST00000338257.8 - 2 343 c.76C>T c.(76-78)Ccc>Tcc p.P26S NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 26 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GTGATCTGGGGAAGAAGCACC 0.642000 21 35 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968044 102968044 + Missense_Mutation SNP T T G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:102968044T>G ENST00000233954.1 + 11 1605 c.1334T>G c.(1333-1335)aTt>aGt p.I445S NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 445 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 AGGCGGCACATTTTCATCCTG 0.458000 6 47 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156897 26156897 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:26156897G>A ENST00000304218.3 + 1 339 c.279G>A c.(277-279)ctG>ctA p.L93L NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 93 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AGGGCACCCTGGTGCAGACCA 0.612000 19 65 0 0 1 0 0 KLRC1 3821 broad.mit.edu 37 12 10603136 10603136 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:10603136C>T ENST00000544822.1 - 4 617 c.230G>A c.(229-231)gGa>gAa p.G77E KLRC1_ENST00000359151.3_Missense_Mutation_p.G77E|KLRC1_ENST00000347831.5_Missense_Mutation_p.G77E|KLRC1_ENST00000536188.1_Missense_Mutation_p.G77E|KLRC1_ENST00000408006.3_Missense_Mutation_p.G77E NM_213658.2 NP_998823.1 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, member 1 77 cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 ACAGATAATTCCCAGGATCCC 0.418000 38 65 0 0 1 0 0 NCEH1 57552 broad.mit.edu 37 3 172353837 172353837 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr3:172353837G>A ENST00000475381.1 - 4 711 c.478C>T c.(478-480)Cat>Tat p.H160Y NCEH1_ENST00000543711.1_Missense_Mutation_p.H27Y|NCEH1_ENST00000538775.1_Missense_Mutation_p.H200Y|NCEH1_ENST00000273512.3_Missense_Mutation_p.H192Y Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 160 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 ACAACATCATGAATTTGCTCA 0.393000 77 99 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24652714 24652714 + Missense_Mutation SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:24652714G>C ENST00000354464.6 - 21 2245 c.2069C>G c.(2068-2070)gCc>gGc p.A690G RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 690 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) TGGAAGGAAGGCCACACTACA 0.582000 5 20 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140165896 140165896 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:140165896G>A ENST00000504120.2 + 1 21 c.21G>A c.(19-21)ggG>ggA p.G7G PCDHA1_ENST00000394633.3_Silent_p.G7G|PCDHA1_ENST00000378133.3_Silent_p.G7G NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAGGAGAGGGGGCCTGGGAG 0.502000 80 12 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98145823 98145823 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:98145823C>T ENST00000357947.3 - 15 2227 c.2002G>A c.(2002-2004)Gaa>Aaa p.E668K NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 668 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TCATTGCCTTCCAGTTCAAAC 0.537000 18 25 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50101043 50101043 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:50101043G>A ENST00000418929.2 + 4 3463 c.3451G>A c.(3451-3453)Ggc>Agc p.G1151S NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 330 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGGACCCGATGGCCCCCGGCG 0.746000 9 3 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74701788 74701788 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:74701788G>A ENST00000370895.1 + 4 381 c.346G>A c.(346-348)Gaa>Aaa p.E116K TNNI3K_ENST00000370893.1_Missense_Mutation_p.E116K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E116K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E116K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E116K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E15K Q59H18 TNI3K_HUMAN 15 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding TTTACTAGATGAATGGAAGAA 0.299000 5 16 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16503152 16503152 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:16503152G>A ENST00000455140.2 - 19 2132 c.2066C>T c.(2065-2067)tCg>tTg p.S689L EPS15L1_ENST00000535753.2_Missense_Mutation_p.S689L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S689L|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S691L NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 689 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GAATGGATCCGAGGTAAATGG 0.537000 40 49 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23888421 23888421 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:23888421C>T ENST00000355349.3 - 29 4099 c.3937G>A c.(3937-3939)Gag>Aag p.E1313K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1313 E -> G (in Ref. 14; CAA27381). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTGAGGTCCTCCAGCTGCTGG 0.597000 42 7 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87367807 87367807 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:87367807C>T ENST00000311635.7 - 8 1094 c.1082G>A c.(1081-1083)cGc>cAc p.R361H RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A25T NM_024735.3 NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 361 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding p.R361H(2)|p.R189H(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) ATTGAAGTTGCGCTGGTTCTC 0.682000 8 155 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36779354 36779354 + Nonsense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:36779354C>T ENST00000361475.2 - 4 712 c.539G>A c.(538-540)tGg>tAg p.W180* TGM2_ENST00000536724.1_Nonsense_Mutation_p.W120*|TGM2_ENST00000536701.1_Nonsense_Mutation_p.W99* NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 180 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CCCAAAATTCCAAGGTATGTT 0.587000 121 170 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219903674 219903674 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:219903674G>A ENST00000341552.5 - 3 180 c.97C>T c.(97-99)Ctc>Ttc p.L33F CCDC108_ENST00000453220.1_Missense_Mutation_p.L33F|CCDC108_ENST00000441968.1_Missense_Mutation_p.L33F|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000409865.3_Intron NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 33 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTCTTAGGAGAAGAGGAATA 0.453000 7 79 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11556319 11556319 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:11556319G>A ENST00000262442.3 + 14 2663 c.2595_splice c.e14+1 p.Q865_splice DNAH9_ENST00000454412.2_Splice_Site_p.Q865_splice NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 865 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCCTTGTTCAGGTAATAACCC 0.428000 55 2 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450579 85450579 + Missense_Mutation SNP A A G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:85450579A>G ENST00000393217.2 + 8 2069 c.2008A>G c.(2008-2010)Aaa>Gaa p.K670E NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 670 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TATAGAAGGCAAAAGAAATGA 0.363000 7 24 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647925 51647925 + Silent SNP C C T rs117714252 by1000genomes TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:51647925C>T ENST00000317643.6 + 2 765 c.696C>T c.(694-696)atC>atT p.I232I SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 232 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACAGGACCATCCAACTCAATG 0.652000 26 49 0 0 1 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45709580 45709580 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:45709580C>T ENST00000305560.6 + 6 2050 c.1951C>T c.(1951-1953)Cca>Tca p.P651S NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 651 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) CATCTATATCCCACCTCCAGA 0.383000 15 20 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11000982 11000982 + Missense_Mutation SNP C C A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:11000982C>A ENST00000324288.8 + 11 1766 c.1633C>A c.(1633-1635)Ctc>Atc p.L545I CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 545 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CACCCTCCTCCTCACAGCCCG 0.697000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 9 19 1.61879e-10 1.6518e-10 1 1 0 SBNO2 22904 broad.mit.edu 37 19 1112039 1112039 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:1112039C>T ENST00000361757.3 - 23 2893 c.2656G>A c.(2656-2658)Gcc>Acc p.A886T SBNO2_ENST00000438103.2_Missense_Mutation_p.A829T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A876T NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 886 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACTCCGTGGCGCGGCGGTCT 0.662000 18 51 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187307 12187307 + Missense_Mutation SNP G G C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:12187307G>C ENST00000439326.3 + 4 1547 c.1372G>C c.(1372-1374)Gat>Cat p.D458H ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 AAAGCCTTCAGATCTGCCTCA 0.423000 3 98 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2550412 2550412 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:2550412C>T ENST00000567020.1 + 6 1568 c.1428C>T c.(1426-1428)ttC>ttT p.F476F TBC1D24_ENST00000293970.5_Silent_p.F482F|TBC1D24_ENST00000434757.2_Silent_p.F482F|RP11-20I23.1_ENST00000564543.1_Intron NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 482 TLD. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 TCTCGCCCTTCCTGGCCGCTC 0.697000 9 6 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 131996253 131996253 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:131996253G>A ENST00000414305.1 + 10 1124 c.796G>A c.(796-798)Gcc>Acc p.A266T ENPP3_ENST00000543135.1_Missense_Mutation_p.A232T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A266T|ENPP3_ENST00000357639.3_Missense_Mutation_p.A266T|ENPP3_ENST00000427148.2_3'UTR O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 266 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AGGTTTAAAAGCCGCTACCTA 0.408000 36 5 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66067186 66067186 + Nonsense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:66067186G>A ENST00000349533.6 + 9 1291 c.1106G>A c.(1105-1107)tGg>tAg p.W369* LEPR_ENST00000371058.1_Nonsense_Mutation_p.W369*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.W369*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W369*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W369*|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 369 Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATTGTTTGGTGGATGAATTTA 0.353000 16 61 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115523956 115523956 + Splice_Site SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:115523956G>T ENST00000369522.3 + 29 2622 c.e29-1 SYCP1_ENST00000369518.1_Splice_Site|SYCP1_ENST00000477590.1_Splice_Site NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTCAATGCAGAAAACACAAA 0.289000 4 12 0.014758 0.0147988 1 1 0 EHD2 30846 broad.mit.edu 37 19 48239706 48239706 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:48239706C>T ENST00000263277.3 + 5 1247 c.996C>T c.(994-996)atC>atT p.I332I EHD2_ENST00000538399.1_Silent_p.I196I|EHD2_ENST00000540884.1_3'UTR NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 332 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) AGCAGCTGATCCTCAAACTGC 0.517000 31 66 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114905824 114905824 + Silent SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:114905824C>T ENST00000355995.4 + 8 1350 c.843C>T c.(841-843)ccC>ccT p.P281P TCF7L2_ENST00000536810.1_Silent_p.P281P|TCF7L2_ENST00000355717.4_Silent_p.P305P|TCF7L2_ENST00000352065.5_Silent_p.P258P|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000543371.1_Silent_p.P281P|TCF7L2_ENST00000369397.4_Silent_p.P258P|TCF7L2_ENST00000545257.1_Silent_p.P281P|TCF7L2_ENST00000349937.2_Silent_p.P277P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000538897.1_Silent_p.P281P|TCF7L2_ENST00000369395.1_Silent_p.P306P|TCF7L2_ENST00000534894.1_Silent_p.P281P Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 281 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) ACCCCTACCCCACAGCTCTGA 0.517000 T VTI1A colorectal 63 95 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88206201 88206201 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:88206201G>A ENST00000298767.5 - 16 3592 c.3120C>T c.(3118-3120)ttC>ttT p.F1040F WAPAL_ENST00000372075.1_Silent_p.F252F|WAPAL_ENST00000263070.7_Silent_p.F252F NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 1040 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 CTCGCTCAAGGAATAGCTGAT 0.368000 5 13 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79033568 79033568 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:79033568G>A ENST00000446378.2 + 2 9011 c.8980G>A c.(8980-8982)Gat>Aat p.D2994N NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2994 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACTCCCTGATGATAGTGAAAC 0.323000 13 1 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993876 140993876 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chrX:140993876C>T ENST00000285879.4 + 4 972 c.686C>T c.(685-687)gCc>gTc p.A229V MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 229 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GAGGGTTTTGCCCAGTCTCCT 0.488000 HNSCC(15;0.026) 62 9 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118394431 118394431 + RNA SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:118394431C>T ENST00000537242.1 + 0 923 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) CTGATGGCTTCCTGGGCTATC 0.502000 12 21 0 0 1 0 0 KIAA0247 9766 broad.mit.edu 37 14 70171350 70171350 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:70171350C>T ENST00000342745.4 + 4 662 c.349C>T c.(349-351)Ccc>Tcc p.P117S NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 117 integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) ACTTGGGGTCCCCACGCTGTC 0.507000 8 22 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1023639 1023639 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:1023639G>A ENST00000358495.3 - 10 1063 c.925C>T c.(925-927)Ctg>Ttg p.L309L RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Silent_p.L309L|RAD52_ENST00000539046.1_Silent_p.L232L NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 309 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) TCTTTCTCCAGGAGTGGTTCT 0.478000 Homologous recombination 37 28 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7895940 7895940 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:7895940C>T ENST00000264668.2 + 12 1762 c.1732C>T c.(1732-1734)Ccg>Tcg p.P578S MTRR_ENST00000440940.2_Missense_Mutation_p.P551S NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 578 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CGGCATAGCCCCGTTTATTGG 0.408000 81 13 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20544117 20544117 + Splice_Site SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:20544117G>A ENST00000504154.1 + 21 2396 c.2143_splice c.e21-1 p.G715_splice SLIT2_ENST00000503823.1_Splice_Site_p.G707_splice|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Splice_Site_p.G711_splice|SLIT2_ENST00000273739.5_Splice_Site_p.G719_splice NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 715 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGCGATTTAGGAAATGATGAC 0.408000 129 86 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64464056 64464056 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr14:64464056C>T ENST00000358025.3 + 25 3420 c.3190C>T c.(3190-3192)Ccc>Tcc p.P1064S SYNE2_ENST00000344113.4_Missense_Mutation_p.P1064S|SYNE2_ENST00000554584.1_Missense_Mutation_p.P1064S|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1064 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGGAGGGGATCCCCACAGTGA 0.378000 10 3 0 0 1 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604400 26604400 + RNA SNP T T C TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:26604400T>C ENST00000577198.1 - 0 561 NR_028334.1 AGGACTCAGGTTTTGACGGCC 0.443000 54 3 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3788618 3788618 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:3788618G>A ENST00000262367.5 - 26 5145 c.4336C>T c.(4336-4338)Cgc>Tgc p.R1446C CREBBP_ENST00000382070.3_Missense_Mutation_p.R1408C NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1446 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.R1446C(6)|p.R1446G(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACGGCTGTGCGGAGGCAACGT 0.413000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 13 37 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103271216 103271216 + Missense_Mutation SNP A A T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:103271216A>T ENST00000520539.1 - 57 8704 c.8098T>A c.(8098-8100)Tca>Aca p.S2700T UBR5_ENST00000518205.1_Missense_Mutation_p.S428T|UBR5_ENST00000220959.4_Missense_Mutation_p.S2699T|UBR5_ENST00000521922.1_Missense_Mutation_p.S2693T NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2700 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GTCCTACCTGATTCATCATTG 0.343000 13 40 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056926 120056926 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:120056926G>A ENST00000235547.6 + 4 925 c.786G>A c.(784-786)acG>acA p.T262T HSD3B1_ENST00000528909.1_Silent_p.T260T|HSD3B1_ENST00000369413.3_Silent_p.T260T NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 260 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CAGATGACACGCCTCACCAAA 0.522000 50 35 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36763691 36763691 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:36763691G>A ENST00000431169.1 - 1 363 c.63C>T c.(61-63)tcC>tcT p.S21S AOAH_ENST00000258749.5_Silent_p.S21S|AOAH_ENST00000535891.1_Silent_p.S21S NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 21 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GAGAGGCCGAGGACTGAAGAG 0.517000 30 22 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90661201 90661201 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:90661201G>A ENST00000257749.4 - 7 1331 c.624C>T c.(622-624)ccC>ccT p.P208P BACH2_ENST00000343122.3_Silent_p.P208P|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.P208P NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 208 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CGTCAGGCTCGGGCAGCAGGG 0.577000 13 36 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67817967 67817967 + Missense_Mutation SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:67817967T>A ENST00000255674.6 - 15 2218 c.1932A>T c.(1930-1932)gaA>gaT p.E644D RTTN_ENST00000454359.1_Missense_Mutation_p.E644D|RTTN_ENST00000437017.1_Missense_Mutation_p.E644D NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 644 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CACCTAAACATTCCTGtaaaa 0.294000 35 33 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33529574 33529574 + Missense_Mutation SNP G G A rs113191242 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr20:33529574G>A ENST00000216951.2 - 6 648 c.550C>T c.(550-552)Ccc>Tcc p.P184S GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.P56S NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 184 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) CCCTTGCTGGGATTATTAGAG 0.498000 41 50 0 0 1 0 0 LYVE1 10894 broad.mit.edu 37 11 10582264 10582264 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:10582264C>T ENST00000256178.3 - 4 639 c.481G>A c.(481-483)Gaa>Aaa p.E161K MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.E57K|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR NM_006691.3 NP_006682.2 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 1 161 anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) ACAATAAATTCTGTTGTTTGT 0.443000 65 56 0 0 1 0 0 GAREM 64762 broad.mit.edu 37 18 29867615 29867615 + Silent SNP T T A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr18:29867615T>A ENST00000399218.4 - 4 1000 c.945A>T c.(943-945)ggA>ggT p.G315G GAREM_ENST00000269209.6_Silent_p.G315G|RP11-344B2.2_ENST00000579580.1_RNA NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 GCCAGCTCTCTCCCTTCACCA 0.537000 24 33 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157516958 157516958 + Missense_Mutation SNP G G T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:157516958G>T ENST00000361835.3 - 3 239 c.82C>A c.(82-84)Cag>Aag p.Q28K FCRL5_ENST00000368190.3_Missense_Mutation_p.Q28K|FCRL5_ENST00000368188.2_Missense_Mutation_p.Q28K|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Missense_Mutation_p.Q28K|FCRL5_ENST00000356953.4_Missense_Mutation_p.Q28K NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 28 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CATGGAGGCTGGAGGAAAATA 0.537000 22 62 1.12875e-08 1.14693e-08 1 1 0 ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr1:145534121_145534122insC ENST00000369304.3 + 14 1801_1802 c.1626_1627insC c.(1624-1629)gaccccfs p.DP542fs ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 542 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 14 268 --- --- --- --- ROCK2 9475 broad.mit.edu 37 2 11389836 11389837 + Frame_Shift_Ins INS - - A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:11389836_11389837insA ENST00000315872.6 - 4 860_861 c.412_413insT c.(412-414)ggafs p.G138fs ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 138 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TCTTTCTTCCCAAAAAAAGGCA 0.356 15 77 --- --- --- --- STRN 6801 broad.mit.edu 37 2 37105142 37105144 + In_Frame_Del DEL AGA AGA - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr2:37105142_37105144delAGA ENST00000263918.4 - 10 1221_1223 c.1213_1215delTCT c.(1213-1215)del p.S405del STRN_ENST00000379213.2_In_Frame_Del_p.S356del NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 405 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) ATGACTTTCCAGAAGAAGGAGGA 0.433 63 193 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83795800 83795801 + Frame_Shift_Ins INS - - T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr4:83795800_83795801insT ENST00000432794.1 - 6 765_766 c.602_603insA c.(601-603)agafs p.R201fs SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.R196fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.R201fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.R201fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 201 Interaction with SEC13. 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) TGATTGGCTCATTTTTTCTAAG 0.411 7 147 --- --- --- --- NIM1K 167359 broad.mit.edu 37 5 43246078 43246078 + Frame_Shift_Del DEL G G - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:43246078delG ENST00000512796.1 + 2 1700 c.201delG c.(199-201)ctfs p.L67fs NIM1_ENST00000326035.2_Frame_Shift_Del_p.L67fs Q8IY84 NIM1_HUMAN 67 ATP binding|magnesium ion binding|protein serine/threonine kinase activity AGATCACGCTGGGGAAACGGA 0.557 10 95 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 7 16 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31594939 31594939 + Frame_Shift_Del DEL C C - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:31594939delC ENST00000376033.2 + 11 1488 c.1254delC c.(1252-1254)ggfs p.G418fs PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.G418fs NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 418 2 X type B repeats.|4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTCACCGGGGCCCCGCCGGGA 0.637 20 46 --- --- --- --- STK38 11329 broad.mit.edu 37 6 36465583 36465583 + Frame_Shift_Del DEL A A - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:36465583delA ENST00000229812.7 - 12 1431 c.1146delT c.(1144-1146)ttfs p.F382fs NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 382 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAACGCCTTCAAAAAAAGAGT 0.368 15 70 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64423251 64423251 + Frame_Shift_Del DEL T T - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr6:64423251delT ENST00000262043.3 + 16 6107 c.5767delT c.(5767-5769)ttfs p.F1923fs PHF3_ENST00000393387.1_Frame_Shift_Del_p.F1923fs Q92576 PHF3_HUMAN PHD finger protein 3 1923 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCGCCAGAGATTTTATAGTGA 0.483 187 113 --- --- --- --- IQCE 23288 broad.mit.edu 37 7 2618122 2618122 + Frame_Shift_Del DEL G G - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:2618122delG ENST00000402050.2 + 8 776 c.592delG c.(592-594)ttfs p.V198fs IQCE_ENST00000325979.7_Frame_Shift_Del_p.V133fs|IQCE_ENST00000404984.1_Frame_Shift_Del_p.V147fs|IQCE_ENST00000438376.2_Frame_Shift_Del_p.V182fs NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 198 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CACGGATTTTGTTCGGACTCT 0.597 89 115 --- --- --- --- EPHB6 2051 broad.mit.edu 37 7 142561447 142561448 + Frame_Shift_Ins INS - - G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr7:142561447_142561448insG ENST00000392957.2 + 6 946_947 c.159_160insG c.(157-162)ccggggfs p.PG53fs EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.PG53fs|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 53 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCTACCCACCAGGGGGGGTGAG 0.574 26 203 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77617337 77617337 + Frame_Shift_Del DEL A A - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr8:77617337delA ENST00000521891.2 + 2 1462 c.1014delA c.(1012-1014)ccfs p.P338fs ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.P338fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.P338fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.P338fs NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 338 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCTGGAACCAAAAAAATCCA 0.428 HNSCC(33;0.089) 15 104 --- --- --- --- SPATA31A6 389730 broad.mit.edu 37 9 43627338 43627347 + Frame_Shift_Del DEL ATTTCATTGA ATTTCATTGA - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr9:43627338_43627347delATTTCATTGA ENST00000332857.6 - 4 1368_1377 c.1340_1349delTCAATGAAAT c.(1339-1350)tgfs p.FNEM447fs NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GACATTGGACATTTCATTGAACAAGAAAGG 0.529 40 45 --- --- --- --- COL17A1 1308 broad.mit.edu 37 10 105800146 105800147 + Frame_Shift_Ins INS - - G TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr10:105800146_105800147insG ENST00000353479.5 - 40 3013_3014 c.2723_2724insC c.(2722-2724)cggfs p.R908fs COL17A1_ENST00000369733.3_Frame_Shift_Ins_p.R908fs NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 908 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CAGGTGGGCCTGGGGGGCCGGA 0.540 45 99 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 2 4 --- --- --- --- ACRBP 84519 broad.mit.edu 37 12 6754500 6754501 + Frame_Shift_Del DEL CT CT - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr12:6754500_6754501delCT ENST00000229243.2 - 4 453_454 c.360_361delAG c.(358-363)agtcfs p.RV120fs ACRBP_ENST00000536350.1_Frame_Shift_Del_p.RV120fs|ACRBP_ENST00000414226.2_Frame_Shift_Del_p.RV120fs NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 120 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 GAACACAGGACTCTCTGCAGGA 0.500 10 48 --- --- --- --- MYO1E 4643 broad.mit.edu 37 15 59466410 59466411 + Frame_Shift_Del DEL TC TC - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr15:59466410_59466411delTC ENST00000288235.4 - 20 2477_2478 c.2078_2079delGA c.(2077-2079)afs p.R693fs NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 693 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CATCATACTTTCTCTCTCTCAT 0.406 11 169 --- --- --- --- TSC2 7249 broad.mit.edu 37 16 2136326 2136327 + Frame_Shift_Del DEL GT GT - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:2136326_2136327delGT ENST00000219476.3 + 37 5425_5426 c.4795_4796delGT c.(4795-4797)gfs p.V1599fs TSC2_ENST00000350773.4_Frame_Shift_Del_p.V1576fs|TSC2_ENST00000353929.4_Frame_Shift_Del_p.V1556fs|TSC2_ENST00000401874.2_Frame_Shift_Del_p.V1532fs|TSC2_ENST00000439673.2_Frame_Shift_Del_p.V1496fs|TSC2_ENST00000382538.6_Frame_Shift_Del_p.V1484fs|TSC2_ENST00000568454.1_Frame_Shift_Del_p.V1543fs NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1599 Rap-GAP. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) AGGCCTGGACGTGTGTGGTGAG 0.649 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 12 67 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5612503 5612504 + RNA INS - - G rs148489785 by1000genomes TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:5612503_5612504insG ENST00000569895.1 + 0 343 GAGGAGAAGAAGGGGGAGGACC 0.550 3 4 --- --- --- --- FBRS 64319 broad.mit.edu 37 16 30678904 30678904 + Frame_Shift_Del DEL G G - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr16:30678904delG ENST00000356166.6 + 15 3123 c.2035delG c.(2035-2037)ggfs p.G679fs FBRS_ENST00000287468.5_Frame_Shift_Del_p.G159fs|FBRS_ENST00000395073.2_Frame_Shift_Del_p.G71fs|FBRS_ENST00000568722.1_Frame_Shift_Del_p.G71fs Q9HAH7 FBRS_HUMAN fibrosin 159 p.G159R(1)|p.G71R(1) ovary(1) 1 Colorectal(24;0.103) GGCAGCTCCCGGGGCCCACGG 0.632 2 4 --- --- --- --- EVPL 2125 broad.mit.edu 37 17 74003457 74003457 + Frame_Shift_Del DEL C C - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr17:74003457delC ENST00000301607.3 - 22 6082 c.5829delG c.(5827-5829)ggfs p.G1943fs EVPL_ENST00000586740.1_Frame_Shift_Del_p.G1965fs NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1943 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGTCGATGAGCCCCCCGGTCA 0.667 20 22 --- --- --- --- C19orf57 79173 broad.mit.edu 37 19 14003610 14003611 + In_Frame_Ins INS - - CCCACT TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:14003610_14003611insCCCACT ENST00000454313.1 - 5 439_440 c.381_382insAGTGGG c.(379-384)ggcctt>ggAGTGGGcctt p.126_127insGV C19orf57_ENST00000346736.2_In_Frame_Ins_p.126_127insGV|C19orf57_ENST00000591586.1_In_Frame_Ins_p.126_127insGV|C19orf57_ENST00000586783.1_In_Frame_Ins_p.126_127insGV Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 126 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) AGGCTAAAGGCCCCACTCCCAC 0.540 10 42 --- --- --- --- NUDT19 390916 broad.mit.edu 37 19 33182995 33182997 + In_Frame_Del DEL GCT GCT - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr19:33182995_33182997delGCT ENST00000397061.3 + 1 129_131 c.129_131delGCT c.(127-132)cgg>cg p.RL43del NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 43 Nudix hydrolase. R -> Q (in dbSNP:rs10413282). mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) AGGGCTTCCGGCTGCTGCTGCTG 0.783 2 4 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c81f48f-8333-44f7-90cf-54aa2d2415f3 36054c7f-2559-4483-866d-b338e37e7123 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 12 251 --- --- --- ---