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 GPD2 2820 broad.mit.edu 37 2 157406233 157406233 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:157406233C>A ENST00000310454.6 + 7 1147 c.775C>A c.(775-777)Cag>Aag p.Q259K GPD2_ENST00000438166.2_Missense_Mutation_p.Q259K|GPD2_ENST00000540309.1_Missense_Mutation_p.Q259K|GPD2_ENST00000409125.4_Missense_Mutation_p.Q32K|GPD2_ENST00000409674.1_Missense_Mutation_p.Q259K NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 259 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 GACAGACCCCCAGACAGGGAA 0.547000 4 51 0.000602214 0.000633556 1 1 0 SEPN1 57190 broad.mit.edu 37 1 26135118 26135118 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:26135118C>T ENST00000361547.2 + 5 640 c.585C>T c.(583-585)gcC>gcT p.A195A SEPN1_ENST00000354177.4_Silent_p.A161A|SEPN1_ENST00000374315.1_Silent_p.A161A NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 195 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|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;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) CAGCCGCCGCCTCACCAAGTG 0.662000 24 78 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66426264 66426264 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:66426264G>A ENST00000341529.3 + 7 1343 c.1195G>A c.(1195-1197)Gat>Aat p.D399N CDH5_ENST00000563425.2_Missense_Mutation_p.D399N NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 399 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CATGGACCCTGATGCGGCTAG 0.557000 26 74 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150931199 150931199 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:150931199C>G ENST00000035307.2 + 1 1615 c.102C>G c.(100-102)atC>atG p.I34M CHPF2_ENST00000495645.1_Missense_Mutation_p.I26M NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 34 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 TTTCCTGGATCCAGGGGGAGG 0.612000 4 72 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35166957 35166957 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr15:35166957C>G ENST00000156471.5 - 29 3571 c.3346G>C c.(3346-3348)Gag>Cag p.E1116Q NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 1116 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AGAGACTGCTCCATGTTTGAG 0.443000 7 95 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429174 179429174 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:179429174C>T ENST00000589042.1 - 326 81909 c.81685G>A c.(81685-81687)Gaa>Aaa p.E27229K TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24661K|TTN_ENST00000359218.5_Missense_Mutation_p.E18289K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E18164K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25588K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18356K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25588 Fibronectin type-III 98. 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) ACTGTAAATTCAGTTTCTAAT 0.378000 7 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179431877 179431877 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:179431877C>T ENST00000589042.1 - 326 79206 c.78982G>A c.(78982-78984)Gaa>Aaa p.E26328K TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23760K|TTN_ENST00000359218.5_Missense_Mutation_p.E17388K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17263K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24687K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17455K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24687 Ig-like 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) CGACTGGTTTCTCGCTTTTCA 0.413000 9 132 0 0 1 0 0 PPM1B 5495 broad.mit.edu 37 2 44445164 44445164 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:44445164C>G ENST00000378551.2 + 4 1435 c.1023C>G c.(1021-1023)atC>atG p.I341M PPM1B_ENST00000409432.3_Missense_Mutation_p.I341M|PPM1B_ENST00000282412.4_Missense_Mutation_p.I341M|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.I54M NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 341 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCATGCGCATCTTGTCTGCAG 0.388000 10 83 0 0 1 0 0 CHN2 1124 broad.mit.edu 37 7 29544431 29544431 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:29544431G>A ENST00000222792.6 + 10 1515 c.985G>A c.(985-987)Gac>Aac p.D329N CHN2_ENST00000435288.2_Intron|CHN2_ENST00000424025.2_Missense_Mutation_p.D148N|CHN2_ENST00000421775.2_Missense_Mutation_p.D135N|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.D314N|CHN2_ENST00000409041.4_Missense_Mutation_p.D193N|CHN2_ENST00000539389.1_Missense_Mutation_p.D185N|CHN2_ENST00000439711.2_Missense_Mutation_p.D193N|CHN2_ENST00000539406.1_Missense_Mutation_p.D404N|CHN2_ENST00000495789.2_Missense_Mutation_p.D342N NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 329 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 AATGGCATTTGACAGAGGTAA 0.408000 6 73 0 0 1 0 0 ACTR1B 10120 broad.mit.edu 37 2 98274689 98274689 + Missense_Mutation SNP C C T rs151155439 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:98274689C>T ENST00000289228.5 - 7 964 c.748G>A c.(748-750)Gat>Aat p.D250N NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 250 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 CCACTTACATCAAGCGTGCTG 0.622000 5 37 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2546545 2546545 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:2546545C>T ENST00000567020.1 + 2 536 c.396C>T c.(394-396)ccC>ccT p.P132P RP11-20I23.1_ENST00000564543.1_Silent_p.P132P|TBC1D24_ENST00000434757.2_Silent_p.P132P|TBC1D24_ENST00000293970.5_Silent_p.P132P NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 132 Rab-GAP TBC. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 CCTTCTGCCCCGCCCTGCCGG 0.682000 7 59 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38287971 38287971 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:38287971G>T ENST00000373036.4 - 9 1729 c.1589C>A c.(1588-1590)cCa>cAa p.P530Q NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 530 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GACCATGGCTGGCAGGGGCTC 0.567000 4 40 0.184627 0.185941 1 1 0 ZSCAN10 84891 broad.mit.edu 37 16 3141583 3141583 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:3141583C>T ENST00000252463.2 - 4 667 c.580G>A c.(580-582)Gag>Aag p.E194K ZSCAN10_ENST00000538082.2_Missense_Mutation_p.E112K|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 194 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GGCACATCCTCAAAGGTCAGG 0.512000 5 62 0 0 1 0 0 CPSF7 79869 broad.mit.edu 37 11 61183233 61183233 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:61183233G>C ENST00000340437.4 - 7 1198 c.1118C>G c.(1117-1119)tCt>tGt p.S373C CPSF7_ENST00000448745.1_Missense_Mutation_p.S321C|CPSF7_ENST00000439958.3_Missense_Mutation_p.S321C|CPSF7_ENST00000394888.4_Missense_Mutation_p.S330C NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 330 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 ACTCACTGTAGAGGGTGGAGG 0.438000 8 93 0 0 1 0 0 ZNF281 23528 broad.mit.edu 37 1 200377405 200377405 + Missense_Mutation SNP T T C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:200377405T>C ENST00000294740.2 - 2 1553 c.1429A>G c.(1429-1431)Aaa>Gaa p.K477E ZNF281_ENST00000367353.1_Missense_Mutation_p.K477E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K441E NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 477 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 AGGTAGTTTTTATCTGTATTC 0.398000 8 112 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373805 126373805 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:126373805C>T ENST00000394329.3 + 9 11647 c.11634C>T c.(11632-11634)caC>caT p.H3878H FAT4_ENST00000335110.5_Silent_p.H2176H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3878 EGF-like 2; calcium-binding (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAACCTGTCACAATTTAGTGG 0.478000 8 47 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123357035 123357035 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:123357035G>A ENST00000360772.3 - 30 5222 c.4844C>T c.(4843-4845)gCg>gTg p.A1615V MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.A1615V|MYLK_ENST00000360304.3_Missense_Mutation_p.A1615V|MYLK_ENST00000359169.1_Missense_Mutation_p.A1615V|MYLK_ENST00000354792.5_Missense_Mutation_p.A415V|MYLK_ENST00000346322.5_Missense_Mutation_p.A1546V Q15746 MYLK_HUMAN myosin light chain kinase 1615 Protein kinase. 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) CAGAGACCCCGCATTCTCTGA 0.552000 4 101 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96674555 96674555 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:96674555C>T ENST00000543119.2 - 16 2088 c.1565G>A c.(1564-1566)cGa>cAa p.R522Q CDK17_ENST00000542666.1_Missense_Mutation_p.R469Q|CDK17_ENST00000261211.3_Intron Q00537 CDK17_HUMAN cyclin-dependent kinase 17 0 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AATTCATGATCGACACGTGAA 0.348000 10 38 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57648307 57648307 + Silent SNP A A G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:57648307A>G ENST00000269834.1 - 4 560 c.175T>C c.(175-177)Ttg>Ctg p.L59L NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 59 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) TCCAACCTCAAGATCACATCG 0.517000 9 75 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149139 73149139 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:73149139C>T ENST00000286657.4 - 22 3368 c.3332G>A c.(3331-3333)gGt>gAt p.G1111D NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1111 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGCATTTGGACCTCCCACTGA 0.468000 13 96 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37162988 37162988 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:37162988G>A ENST00000421307.1 - 7 747 c.325C>T c.(325-327)Cac>Tac p.H109Y LRRFIP2_ENST00000396428.2_Missense_Mutation_p.H92Y|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.H109Y|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 109 DVL3-binding. Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 CCAACCCTGTGACTGCCAACA 0.358000 4 53 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42638408 42638408 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:42638408G>C ENST00000372899.1 + 36 4299 c.4041G>C c.(4039-4041)ttG>ttC p.L1347F UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.L1347F NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1347 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AAAGAATTTTGAGTGATGAAG 0.308000 14 90 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767136 57767136 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr20:57767136G>A ENST00000371030.2 + 1 1062 c.1062G>A c.(1060-1062)gaG>gaA p.E354E NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 354 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) ACAGCGCGGAGCAGCCGCATG 0.756000 13 41 0 0 1 0 0 DUS2 54920 broad.mit.edu 37 16 68072007 68072007 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:68072007G>C ENST00000565263.1 + 3 575 c.81G>C c.(79-81)atG>atC p.M27I DUS2L_ENST00000432752.1_Missense_Mutation_p.M27I|DUS2L_ENST00000358896.6_Missense_Mutation_p.M27I NM_017803.3 NP_060273.1 Q9NX74 DUS2L_HUMAN 27 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) CTCTTCCAATGAGGCTGCTGG 0.488000 8 117 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38828727 38828727 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:38828727C>T ENST00000436693.2 - 2 2487 c.2368G>A c.(2368-2370)Gaa>Aaa p.E790K TLR6_ENST00000381950.1_Missense_Mutation_p.E790K NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 790 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCATTGTTTTCAGTGACTAGT 0.363000 4 36 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264910 1264910 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:1264910C>T ENST00000447027.1 + 31 6867 c.6809C>T c.(6808-6810)tCt>tTt p.S2270F MUC5B_ENST00000529681.1_Missense_Mutation_p.S2267F|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2267 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) TCACCCCCTTCTCCAGGGACG 0.672000 11 201 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206884551 206884551 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:206884551C>T ENST00000403263.1 - 7 1721 c.1317G>A c.(1315-1317)ctG>ctA p.L439L NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 439 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 CCACCTCCCTCAGCTTGGTCC 0.423000 6 22 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94855306 94855306 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:94855306G>A ENST00000289495.5 + 6 2140 c.1924G>A c.(1924-1926)Gag>Aag p.E642K PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E642K|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E642K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E642K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E642K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E664K NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 642 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGAAGAAGATGAGGTAGGACC 0.473000 HNSCC(28;0.073) 4 111 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1017087 1017087 + Missense_Mutation SNP G G T rs71472140 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:1017087G>T ENST00000421673.2 - 31 5764 c.5714C>A c.(5713-5715)tCc>tAc p.S1905Y NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1905 Approximate repeats.|Thr-rich. SP -> AA (in Ref. 5; AAA35866). maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGAGCTTGGGGATTGGCTGGT 0.552000 20 1105 3.27435e-08 3.67715e-08 1 1 0 PTCHD4 442213 broad.mit.edu 37 6 47976658 47976658 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:47976658C>T ENST00000543600.1 - 2 607 c.568G>A c.(568-570)Gag>Aag p.E190K PTCHD4_ENST00000339488.4_Missense_Mutation_p.E207K Q6ZW05 CF138_HUMAN patched domain containing 4 207 integral to membrane hedgehog receptor activity TGATGCTCCTCCTGGAGCTTC 0.502000 11 50 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53645521 53645521 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:53645521C>G ENST00000452676.2 - 5 989 c.563G>C c.(562-564)aGc>aCc p.S188T ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S188T|ZNF347_ENST00000334197.7_Missense_Mutation_p.S187T NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TGACTGAAGGCTTAATCCAAG 0.368000 15 132 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505570 159505570 + Silent SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:159505570G>C ENST00000334857.2 - 1 272 c.228C>G c.(226-228)gtC>gtG p.V76V NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GTGGCACAATGACCAGTGTGT 0.433000 24 136 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133389906 133389906 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:133389906C>T ENST00000204726.3 - 4 1064 c.506G>A c.(505-507)cGc>cAc p.R169H GOLGA3_ENST00000545875.1_Missense_Mutation_p.R169H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R169H|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R169H|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R169H NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 169 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CTCCTGCTGGCGCTTCACCCT 0.587000 6 24 0 0 1 0 0 C9orf135 138255 broad.mit.edu 37 9 72501807 72501807 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr9:72501807C>A ENST00000377197.3 + 5 590 c.503C>A c.(502-504)cCa>cAa p.P168Q C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Intron NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 168 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 GATTATCAGCCACATGTGAGT 0.368000 11 58 1.58986e-06 1.75755e-06 1 1 0 COLEC10 10584 broad.mit.edu 37 8 120103455 120103455 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:120103455G>A ENST00000332843.2 + 3 329 c.288G>A c.(286-288)aaG>aaA p.K96K COLEC10_ENST00000521788.1_3'UTR NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 96 Collagen-like. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) CCATTGGGAAGAAGGGTAAGT 0.438000 15 46 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115603908 115603908 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr10:115603908G>C ENST00000361384.2 - 5 3391 c.2474C>G c.(2473-2475)tCt>tGt p.S825C DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S825C NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 825 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) CGCAAGAAGAGAACGTTCCAT 0.453000 Other identified genes with known or suspected DNA repair function 4 90 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33716499 33716499 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr13:33716499G>A ENST00000336934.5 - 4 451 c.335C>T c.(334-336)aCg>aTg p.T112M STARD13_ENST00000399365.3_De_novo_Start_InFrame|STARD13_ENST00000255486.4_Missense_Mutation_p.T104M|STARD13_ENST00000487412.1_5'UTR NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 112 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTTGTTCAACGTATTTAGTCG 0.358000 13 107 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946376 16946376 + RNA SNP G G A rs12086176 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:16946376G>A ENST00000412962.1 - 0 1143 GGAGGCCCTCGTCATGCTCCT 0.657000 6 32 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55540960 55540960 + Missense_Mutation SNP T T C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:55540960T>C ENST00000361760.1 + 1 47 c.47T>C c.(46-48)cTc>cCc p.L16P NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) ACTTTTATTCTCTTGGGTTTT 0.383000 6 222 0 0 1 0 0 JOSD2 126119 broad.mit.edu 37 19 51009451 51009451 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:51009451G>A ENST00000598418.1 - 5 799 c.546C>T c.(544-546)ggC>ggT p.G182G JOSD2_ENST00000595669.1_Silent_p.G140G|JOSD2_ENST00000391815.3_Silent_p.G182G|JOSD2_ENST00000601423.1_Silent_p.G182G NM_001270639.1|NM_001270640.1 NP_001257568.1|NP_001257569.1 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 182 Josephin. protein deubiquitination ubiquitin-specific protease activity kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) GCAGCCAGCTGCCCTTCTCCT 0.677000 14 23 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31777941 31777941 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:31777941C>G ENST00000375654.4 - 2 1998 c.1809G>C c.(1807-1809)caG>caC p.Q603H HSPA1L_ENST00000417199.3_Missense_Mutation_p.Q603H NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 603 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGTTACACATCTGCTCCAATT 0.483000 31 117 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114448933 114448933 + Missense_Mutation SNP A A C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:114448933A>C ENST00000297405.5 - 1 395 c.151T>G c.(151-153)Ttt>Gtt p.F51V CSMD3_ENST00000455883.2_Missense_Mutation_p.F51V|CSMD3_ENST00000352409.3_Missense_Mutation_p.F51V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 51 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTCAATAAAAAGACGAGGTTC 0.507000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 260 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3452488 3452488 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:3452488C>T ENST00000589123.1 + 8 1186 c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W NFIC_ENST00000590282.1_Missense_Mutation_p.R365W|NFIC_ENST00000443272.2_Missense_Mutation_p.R365W|NFIC_ENST00000395111.3_Missense_Mutation_p.R356W|NFIC_ENST00000341919.3_Missense_Mutation_p.R365W|NFIC_ENST00000346156.5_Missense_Mutation_p.R332W|NFIC_ENST00000586919.1_Missense_Mutation_p.R332W NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 365 DNA replication|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|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AGGGATCGCCCGGAGCCCACA 0.647000 23 220 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16247130 16247130 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:16247130C>T ENST00000259727.4 + 2 259 c.145C>T c.(145-147)Ccc>Tcc p.P49S NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 49 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) CTCAGGGATTCCCATCATCGT 0.473000 17 95 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33648240 33648240 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:33648240C>G ENST00000399362.4 - 16 1890 c.1537G>C c.(1537-1539)Ggt>Cgt p.G513R CLASP2_ENST00000307312.7_Missense_Mutation_p.G2R|CLASP2_ENST00000487200.1_Missense_Mutation_p.G286R|CLASP2_ENST00000461133.3_Missense_Mutation_p.G280R|CLASP2_ENST00000313350.6_Missense_Mutation_p.G286R|CLASP2_ENST00000468888.2_Missense_Mutation_p.G514R|CLASP2_ENST00000480013.1_Missense_Mutation_p.G280R|CLASP2_ENST00000333778.6_Missense_Mutation_p.G290R|CLASP2_ENST00000539981.1_Missense_Mutation_p.G265R|CLASP2_ENST00000359576.5_Missense_Mutation_p.G513R NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 514 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TTTCTAAGACCCATGTATGTC 0.343000 7 94 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219602570 219602570 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:219602570G>T ENST00000392102.1 + 3 511 c.171G>T c.(169-171)aaG>aaT p.K57N TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.K57N|TTLL4_ENST00000258398.4_Missense_Mutation_p.K57N NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 57 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AGCTGGAAAAGAAGCAAGTGG 0.582000 7 87 2.0095e-06 2.20422e-06 1 1 0 ATP2B3 492 broad.mit.edu 37 X 152823653 152823653 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:152823653C>T ENST00000370186.1 + 15 2801 c.2475C>T c.(2473-2475)gtC>gtT p.V825V ATP2B3_ENST00000370181.2_Silent_p.V825V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Silent_p.V825V|ATP2B3_ENST00000359149.3_Silent_p.V839V|ATP2B3_ENST00000263519.4_Silent_p.V839V|ATP2B3_ENST00000349466.2_Silent_p.V839V Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 839 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCAAGGCAGTCATGTGGGGCC 0.582000 17 130 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4871597 4871597 + Splice_Site SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:4871597G>A ENST00000321919.9 - 8 759 c.681_splice c.e8-1 p.P228_splice GLYR1_ENST00000381983.3_Intron|GLYR1_ENST00000436648.5_Splice_Site_p.P147_splice|GLYR1_ENST00000591451.1_Splice_Site_p.P228_splice NM_032569.3 NP_115958.2 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 228 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 ACAGACAGCTGGCTAATGAAG 0.443000 11 95 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79048590 79048590 + Missense_Mutation SNP A A G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr5:79048590A>G ENST00000446378.2 + 6 11114 c.11083A>G c.(11083-11085)Agt>Ggt p.S3695G NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3695 perinuclear region of cytoplasm p.S3695R(2) 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) CTCGGCAAGAAGTGACCAGAT 0.383000 13 66 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8608483 8608483 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:8608483G>T ENST00000382480.2 + 6 1315 c.515G>T c.(514-516)tGg>tTg p.W172L CPZ_ENST00000360986.4_Missense_Mutation_p.W309L|CPZ_ENST00000315782.6_Missense_Mutation_p.W298L|CPZ_ENST00000429646.2_5'UTR NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 309 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TACAACGGGTGGACGAGCGGG 0.657000 8 59 0.0581538 0.0587768 1 1 0 DRAM2 128338 broad.mit.edu 37 1 111662502 111662502 + Missense_Mutation SNP G G T rs78046136 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:111662502G>T ENST00000286692.4 - 7 1214 c.597C>A c.(595-597)gaC>gaA p.D199E DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.D199E Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 199 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 TTCTTACTTTGTCCTCGGGGT 0.333000 6 63 0.00116845 0.0012247 1 1 0 COL6A1 1291 broad.mit.edu 37 21 47423881 47423881 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr21:47423881G>A ENST00000361866.3 + 35 3155 c.3041G>A c.(3040-3042)cGc>cAc p.R1014H COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 1014 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GCCCTGCTCCGCGGTGTCTTC 0.677000 6 86 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70775082 70775082 + Missense_Mutation SNP T T G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:70775082T>G ENST00000373719.3 + 7 988 c.771T>G c.(769-771)aaT>aaG p.N257K OGT_ENST00000373701.3_Missense_Mutation_p.N247K NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 257 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TGAGTCCAAATCACGCAGTGG 0.483000 14 58 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42866710 42866710 + Nonsense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:42866710G>T ENST00000334370.4 + 33 6453 c.5818G>T c.(5818-5820)Gag>Tag p.E1940* MEGF8_ENST00000251268.6_Nonsense_Mutation_p.E2007* NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2007 PSI 5. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GTGCACGCGGGAGGGCAAGTG 0.632000 14 139 2.35188e-11 2.69467e-11 1 1 0 CFB 629 broad.mit.edu 37 6 31905149 31905149 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:31905149C>G ENST00000456570.1 + 5 638 c.583C>G c.(583-585)Ctc>Gtc p.L195V C2_ENST00000299367.5_Missense_Mutation_p.L348V|C2_ENST00000442278.2_Missense_Mutation_p.L216V|CFB_ENST00000477310.1_Missense_Mutation_p.L166V|CFB_ENST00000556679.1_Missense_Mutation_p.L195V|C2_ENST00000469372.1_Missense_Mutation_p.L102V|C2_ENST00000452323.2_Missense_Mutation_p.L134V P00751 CFAB_HUMAN complement factor B 364 Sushi 3. 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 CAGTGTCTATCTCATGATGAA 0.473000 11 155 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26204762 26204762 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:26204762C>G ENST00000264712.3 - 1 604 c.25G>C c.(25-27)Gag>Cag p.E9Q KIF3C_ENST00000405914.1_Missense_Mutation_p.E9Q NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 9 Kinesin-motor. 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) TTGAGGGCCTCGCTGGCCTTG 0.667000 6 64 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482036 76482036 + Silent SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:76482036C>G ENST00000307431.8 + 6 1048 c.663C>G c.(661-663)ctC>ctG p.L221L CNTNAP4_ENST00000478060.1_Silent_p.L197L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L221L|CNTNAP4_ENST00000476707.1_Silent_p.L225L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 222 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGATTCTACTCCACAGGGAAG 0.378000 9 61 0 0 1 0 0 ZNF85 7639 broad.mit.edu 37 19 21131726 21131726 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:21131726C>G ENST00000601023.1 + 2 875 c.229C>G c.(229-231)Caa>Gaa p.Q77E ZNF85_ENST00000345030.6_Missense_Mutation_p.Q103E|ZNF85_ENST00000328178.8_Missense_Mutation_p.Q136E Q03923 ZNF85_HUMAN zinc finger protein 85 136 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 TGGACTTAACCAATGTCTCAC 0.328000 4 112 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21874755 21874755 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:21874755C>T ENST00000429584.2 + 1 651 c.153C>T c.(151-153)taC>taT p.Y51Y MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 51 Mediates transcriptional activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 ATTGGATCTACGGTGGCCACA 0.537000 4 121 0 0 1 0 0 GPR160 26996 broad.mit.edu 37 3 169801763 169801763 + Translation_Start_Site SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:169801763G>A ENST00000355897.5 + 4 611 c.3G>A c.(1-3)atG>atA p.M1I NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 1 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) CTAAAAATATGACTGCTCTCT 0.358000 5 115 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8239028 8239028 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:8239028G>A ENST00000520004.1 - 2 494 c.230C>T c.(229-231)tCa>tTa p.S77L SGK223_ENST00000330777.4_Missense_Mutation_p.S77L Q86YV5 SG223_HUMAN 77 ATP binding|non-membrane spanning protein tyrosine kinase activity GGAGTAAGGTGAGCTGTTCAC 0.647000 13 64 0 0 1 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249485 119249485 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:119249485C>T ENST00000217999.2 - 1 362 c.288G>A c.(286-288)ccG>ccA p.P96P RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 96 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 TCTCGGGCTGCGGACCCTCCA 0.662000 4 96 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178681637 178681637 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:178681637G>A ENST00000286063.5 - 9 1973 c.1656C>T c.(1654-1656)atC>atT p.I552I PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Silent_p.I194I|PDE11A_ENST00000409504.1_Silent_p.I194I|PDE11A_ENST00000358450.4_Silent_p.I302I|PDE11A_ENST00000389683.3_Silent_p.I108I NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 552 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.I552I(1)|p.I302I(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GTCCACAAAAGATGACAAAAG 0.423000 Primary Pigmented Nodular Adrenocortical Disease, Familial 7 74 0 0 1 0 0 ULK2 9706 broad.mit.edu 37 17 19683938 19683938 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr17:19683938G>A ENST00000395544.4 - 25 3262 c.2763C>T c.(2761-2763)gtC>gtT p.V921V ULK2_ENST00000361658.2_Silent_p.V921V NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 921 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TCAGATTCTTGACAACTGAAA 0.338000 5 47 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113358346 113358346 + Missense_Mutation SNP A A C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:113358346A>C ENST00000297405.5 - 41 6666 c.6422T>G c.(6421-6423)aTa>aGa p.I2141R CSMD3_ENST00000343508.3_Missense_Mutation_p.I2101R|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2037R|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2071R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2141 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGGTAGATTTATTGTCCATGT 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 35 246 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96771954 96771954 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr14:96771954G>A ENST00000359933.4 - 31 5598 c.4705C>T c.(4705-4707)Cct>Tct p.P1569S ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1569 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GAAGTGGGAGGGACTATTCCA 0.378000 10 50 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7021955 7021955 + Missense_Mutation SNP T T C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:7021955T>C ENST00000278314.4 - 3 1274 c.959A>G c.(958-960)aAt>aGt p.N320S ZNF214_ENST00000536068.1_Missense_Mutation_p.N320S NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTTTGATGATTGTGAAGACT 0.398000 14 131 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63994239 63994239 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:63994239G>A ENST00000279206.3 + 2 271 c.115G>A c.(115-117)Gag>Aag p.E39K NUDT22_ENST00000441250.2_Missense_Mutation_p.E39K NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 39 hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 AGGTGGGGACGAGGCCATCAC 0.687000 10 68 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20101734 20101734 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:20101734G>C ENST00000396085.1 + 25 5665 c.5304G>C c.(5302-5304)aaG>aaC p.K1768N NAV2_ENST00000349880.4_Missense_Mutation_p.K1768N|NAV2_ENST00000360655.4_Missense_Mutation_p.K1704N|NAV2_ENST00000396087.3_Missense_Mutation_p.K1824N|NAV2_ENST00000533917.1_Missense_Mutation_p.K832N|NAV2_ENST00000527559.2_Missense_Mutation_p.K1753N|NAV2_ENST00000311043.8_Missense_Mutation_p.K832N|NAV2_ENST00000540292.1_Missense_Mutation_p.K1755N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1824 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GTGACTCAAAGAAGAAGAAGC 0.567000 4 23 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57918797 57918797 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:57918797C>T ENST00000355673.3 + 5 634 c.278C>T c.(277-279)tCa>tTa p.S93L MBD6_ENST00000431731.2_Missense_Mutation_p.S93L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 93 chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GGGCCAGCATCAGAGGAGGAC 0.597000 15 139 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53400278 53400278 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:53400278C>T ENST00000262056.9 + 1 337 c.11C>T c.(10-12)tCa>tTa p.S4L EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.S4L|EIF4B_ENST00000416762.3_Missense_Mutation_p.S4L NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 4 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 ATGGCGGCCTCAGGTGAGCGA 0.612000 15 135 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177908869 177908869 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:177908869G>A ENST00000308284.6 - 18 2260 c.2171C>T c.(2170-2172)tCa>tTa p.S724L RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 724 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CGAAATATCTGAGCGAGTAGG 0.408000 4 13 0 0 1 0 0 IDH3B 3420 broad.mit.edu 37 20 2639112 2639112 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr20:2639112G>A ENST00000380851.5 - 12 1158 c.1128C>T c.(1126-1128)gtC>gtT p.V376V IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380843.4_3'UTR NM_001258384.1|NM_174855.2 NP_001245313.1|NP_777280.1 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3 (NAD+) beta 376 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1) 14 NADH(DB00157) AGGCAGCAATGACAGCCTCAG 0.493000 3 24 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96091445 96091445 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:96091445C>T ENST00000453304.1 - 15 2838 c.2490G>A c.(2488-2490)gcG>gcA p.A830A NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 830 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGATGGTGTTCGCAGGATCCA 0.552000 23 190 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 100015808 100015808 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:100015808C>G ENST00000289371.5 + 24 3796 c.3594C>G c.(3592-3594)ttC>ttG p.F1198L NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 1198 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AAGACTGGTTCAGAGATGAAA 0.433000 6 83 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115603955 115603955 + Silent SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr10:115603955G>C ENST00000361384.2 - 5 3344 c.2427C>G c.(2425-2427)gtC>gtG p.V809V DCLRE1A_ENST00000369305.1_Silent_p.V809V NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 809 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TGTGTAATATGACAGTACCAT 0.443000 Other identified genes with known or suspected DNA repair function 6 79 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27601563 27601563 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:27601563G>A ENST00000323703.6 - 3 768 c.570C>T c.(568-570)ctC>ctT p.L190L ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Silent_p.L128L NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 190 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAGGTTGACGAGCTGGGCTG 0.657000 7 58 0 0 1 0 0 G2E3 55632 broad.mit.edu 37 14 31071207 31071207 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr14:31071207G>A ENST00000206595.6 + 10 1034 c.880G>A c.(880-882)Gag>Aag p.E294K G2E3_ENST00000438909.2_Missense_Mutation_p.E248K|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.E324K NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 294 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 ATCTGTAGGAGAGTTCCAAAA 0.284000 5 46 0 0 1 0 0 ZNF623 9831 broad.mit.edu 37 8 144732950 144732950 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:144732950G>A ENST00000501748.2 + 1 997 c.908G>A c.(907-909)cGc>cAc p.R303H ZNF623_ENST00000458270.2_Missense_Mutation_p.R263H|ZNF623_ENST00000526926.1_Missense_Mutation_p.R263H NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTCCGTCATCGCTCAGACCTT 0.448000 11 94 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39806526 39806526 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:39806526G>A ENST00000564288.1 + 40 11259 c.10482G>A c.(10480-10482)ctG>ctA p.L3494L MACF1_ENST00000567887.1_Silent_p.L3531L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Silent_p.L3499L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.L1934L|MACF1_ENST00000545844.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3499 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTCAAGATCTGAGAGCCTGGG 0.418000 7 65 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20460094 20460094 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr22:20460094C>G ENST00000426804.1 - 1 1692 c.1208G>C c.(1207-1209)cGt>cCt p.R403P NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) GCAGCCTGCACGCCGCAGCTG 0.667000 5 47 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47456604 47456604 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:47456604G>A ENST00000265565.5 - 19 3535 c.3123C>T c.(3121-3123)agC>agT p.S1041S SCAP_ENST00000441517.2_Silent_p.S785S|SCAP_ENST00000545718.1_Silent_p.S648S NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 1041 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) ACTGCAGGGGGCTGAGGGCAG 0.597000 3 34 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6985295 6985295 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr18:6985295C>T ENST00000389658.3 - 39 5694 c.5601G>A c.(5599-5601)ctG>ctA p.L1867L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1867 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTGTAGACCAGGTCGACTG 0.502000 25 199 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3187479 3187479 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:3187479C>T ENST00000396878.3 + 2 673 c.198C>T c.(196-198)ctC>ctT p.L66L ZNF213_ENST00000416391.2_5'UTR|ZNF213_ENST00000574902.1_Silent_p.L66L|ZNF213_ENST00000576416.1_Silent_p.L66L NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 66 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 TCAGCCAGCTCTGGGAGCTCT 0.652000 9 100 0 0 1 0 0 RASSF5 83593 broad.mit.edu 37 1 206760287 206760287 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:206760287G>C ENST00000304534.8 + 5 1184 c.775G>C c.(775-777)Gaa>Caa p.E259Q RASSF5_ENST00000355294.4_Missense_Mutation_p.E412Q|RASSF5_ENST00000338603.2_Intron|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_3'UTR NM_182665.2 NP_872606.1 Q8WWW0 RASF5_HUMAN Ras association (RalGDS/AF-6) domain family member 5 412 apoptosis|intracellular signal transduction cytoplasm|microtubule metal ion binding|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GGCCTTAAGAGAATCCCAGGG 0.413000 7 54 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128582205 128582205 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:128582205C>A ENST00000402030.2 + 2 142 c.70C>A c.(70-72)Cag>Aag p.Q24K IRF5_ENST00000477535.1_Missense_Mutation_p.Q24K|IRF5_ENST00000473745.1_Missense_Mutation_p.Q24K|IRF5_ENST00000249375.4_Missense_Mutation_p.Q24K|IRF5_ENST00000357234.5_Missense_Mutation_p.Q24K NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 24 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 GCTGGTGGCCCAGGTGAACAG 0.622000 14 57 2.32078e-09 2.63768e-09 1 1 0 CERS4 79603 broad.mit.edu 37 19 8321959 8321959 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:8321959G>A ENST00000558331.1 + 9 1045 c.586G>A c.(586-588)Gag>Aag p.E196K CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Missense_Mutation_p.E247K|CERS4_ENST00000559450.1_Missense_Mutation_p.E247K|CERS4_ENST00000251363.5_Missense_Mutation_p.E247K Q9HA82 CERS4_HUMAN ceramide synthase 4 247 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTACCTGCTGGAGGTGGGCCC 0.612000 20 188 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72022728 72022728 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:72022728C>T ENST00000378743.3 - 20 4274 c.3916G>A c.(3916-3918)Gag>Aag p.E1306K NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1306 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 GACTGTTCCTCATCACTACTG 0.328000 11 88 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71792516 71792516 + Silent SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:71792516G>T ENST00000439122.2 - 1 382 c.96C>A c.(94-96)gcC>gcA p.A32A HDAC8_ENST00000373573.3_Silent_p.A32A|HDAC8_ENST00000373583.1_Silent_p.A32A|HDAC8_ENST00000373589.4_Silent_p.A32A|HDAC8_ENST00000373554.1_Silent_p.A32A|HDAC8_ENST00000373561.4_Silent_p.A32A|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373560.2_Silent_p.A32A|HDAC8_ENST00000373556.3_Silent_p.A32A|HDAC8_ENST00000373571.1_Silent_p.A32A|HDAC8_ENST00000373559.4_Silent_p.A32A|HDAC8_ENST00000429103.2_5'UTR NM_001166419.1 NP_001159891.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 32 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) TGGGGATCTTGGCCAGGGAGT 0.592000 10 82 5.50884e-06 5.99616e-06 1 1 0 CCNI 10983 broad.mit.edu 37 4 77979787 77979787 + Splice_Site SNP T T A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:77979787T>A ENST00000237654.4 - 3 692 c.114_splice c.e3-1 p.N39_splice CCNI_ENST00000504697.1_5'UTR|CCNI_ENST00000537948.1_Splice_Site_p.N25_splice NM_006835.2 NP_006826.1 Q14094 CCNI_HUMAN cyclin I 39 spermatogenesis NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 TGGAGAAACATTCTATAAGGG 0.363000 16 107 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155051 12155051 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:12155051G>C ENST00000602107.1 - 5 1305 c.1306C>G c.(1306-1308)Cac>Gac p.H436D CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.H389D|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TCTCCAGTGTGAGTCCTTTCA 0.428000 7 81 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4924259 4924259 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:4924259G>A ENST00000396658.4 + 14 2551 c.1848G>A c.(1846-1848)caG>caA p.Q616Q UBN1_ENST00000262376.6_Silent_p.Q616Q|UBN1_ENST00000590769.1_Silent_p.Q616Q|UBN1_ENST00000545171.1_Silent_p.Q616Q NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 616 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 CATCAGGACAGATTGGTGGCC 0.507000 22 250 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47765413 47765413 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:47765413G>C ENST00000273857.4 - 4 599 c.600C>G c.(598-600)atC>atG p.I200M CORIN_ENST00000502252.1_Missense_Mutation_p.I133M|CORIN_ENST00000504584.1_Missense_Mutation_p.I200M|CORIN_ENST00000505909.1_Missense_Mutation_p.I200M|CORIN_ENST00000508498.1_Missense_Mutation_p.I61M NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 200 FZ 1. 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 CGCCATCAATGATGCACTCAG 0.408000 3 32 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47889778 47889778 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:47889778C>T ENST00000446256.2 + 16 2850 c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W DHX30_ENST00000457607.1_Missense_Mutation_p.R827W|DHX30_ENST00000445061.1_Missense_Mutation_p.R799W|DHX30_ENST00000348968.4_Missense_Mutation_p.R771W NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 799 Helicase C-terminal. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CCCTCGAAGCCGGCTGGAGAA 0.597000 4 51 0 0 1 0 0 USO1 8615 broad.mit.edu 37 4 76726448 76726448 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:76726448G>C ENST00000538159.1 + 20 2308 c.2308G>C c.(2308-2310)Gaa>Caa p.E770Q USO1_ENST00000514213.2_Missense_Mutation_p.E746Q O60763 USO1_HUMAN USO1 vesicle transport factor 761 intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTCTATGATTGAAAATATGGT 0.338000 3 31 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57367739 57367739 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:57367739G>A ENST00000403558.1 + 2 907 c.541G>A c.(541-543)Gta>Ata p.V181I SERPING1_ENST00000378324.2_Missense_Mutation_p.V95I|SERPING1_ENST00000340687.6_Missense_Mutation_p.V147I|SERPING1_ENST00000278407.4_Missense_Mutation_p.V147I|SERPING1_ENST00000378323.4_Missense_Mutation_p.V152I NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 147 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 GGATGCTTTGGTAGATTTCTC 0.542000 31 155 0 0 1 0 0 LZTFL1 54585 broad.mit.edu 37 3 45872573 45872573 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:45872573C>T ENST00000296135.6 - 6 688 c.514G>A c.(514-516)Gaa>Aaa p.E172K LZTFL1_ENST00000539217.1_Missense_Mutation_p.E168K|LZTFL1_ENST00000536047.1_Missense_Mutation_p.E155K|LZTFL1_ENST00000490463.1_5'UTR NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 172 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) ACCTGTATTTCAATGGTCTTC 0.279000 6 32 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135080595 135080595 + Nonsense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:135080595G>C ENST00000428680.2 - 9 1190 c.911C>G c.(910-912)tCa>tGa p.S304* CNOT4_ENST00000541284.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.S307*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.S307*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.S304*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.S304*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.S307*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.S307* NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 307 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ATTGGATTTTGACAAACCAGG 0.388000 21 41 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103137151 103137151 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:103137151G>A ENST00000424685.2 - 56 9174 c.9015C>T c.(9013-9015)taC>taT p.Y3005Y RELN_ENST00000343529.5_Silent_p.Y3005Y|RELN_ENST00000428762.1_Silent_p.Y3005Y|CTB-107G13.1_ENST00000422488.1_RNA P78509 RELN_HUMAN reelin 3005 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) GAAGAAGTATGTAGTCGTGTC 0.428000 5 96 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113259262 113259262 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:113259262C>T ENST00000297405.5 - 64 10453 c.10209G>A c.(10207-10209)caG>caA p.Q3403Q CSMD3_ENST00000343508.3_Silent_p.Q3363Q|CSMD3_ENST00000455883.2_Silent_p.Q3234Q|CSMD3_ENST00000352409.3_Silent_p.Q3333Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3403 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGCATTCAGGCTGAATCCCAC 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 42 0 0 1 0 0 AVPR1A 552 broad.mit.edu 37 12 63541270 63541270 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:63541270C>G ENST00000299178.2 - 2 1231 c.1126G>C c.(1126-1128)Gaa>Caa p.E376Q NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 376 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TCAGTATCTTCTTTGTTGAAT 0.403000 21 130 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49064276 49064276 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:49064276G>C ENST00000326739.4 - 7 702 c.663C>G c.(661-663)atC>atG p.I221M NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 221 CBS 2. GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) TCCGGGCAATGATGGCCACAA 0.527000 15 163 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069412 57069412 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:57069412G>A ENST00000532437.1 - 8 5151 c.4840C>T c.(4840-4842)Cgg>Tgg p.R1614W TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R1614W Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1614 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CGAGATGCCCGTGGCTCTGCA 0.587000 4 69 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30361940 30361940 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr17:30361940G>A ENST00000327564.7 + 6 2130 c.2069G>A c.(2068-2070)cGc>cAc p.R690H LRRC37B_ENST00000394713.3_Missense_Mutation_p.R612H|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R663H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R581H|LRRC37B_ENST00000584368.1_Missense_Mutation_p.R624H Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 663 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATTCTCAATCGCAATCCTCTG 0.323000 4 84 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26294277 26294277 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr22:26294277G>T ENST00000335473.7 + 29 4922 c.4672G>T c.(4672-4674)Ggg>Tgg p.G1558W CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.G1559W|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.G1558W|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1558 Tail. 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 CTTACAGCTTGGGGAGTTGCA 0.468000 5 63 0.217242 0.218013 1 1 0 CSTF2T 23283 broad.mit.edu 37 10 53459276 53459276 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr10:53459276C>A ENST00000331173.4 - 1 79 c.34G>T c.(34-36)Gat>Tat p.D12Y PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 12 mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) AGTGATCGATCCATTGCCGGG 0.522000 14 168 3.32936e-07 3.70948e-07 1 1 0 YKT6 10652 broad.mit.edu 37 7 44251862 44251862 + Nonsense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:44251862C>G ENST00000223369.2 + 7 665 c.578C>G c.(577-579)tCa>tGa p.S193* YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Nonsense_Mutation_p.S159* NM_006555.3 NP_006546.1 O15498 YKT6_HUMAN YKT6 v-SNARE homolog (S. cerevisiae) 193 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 AAACAAAACTCATGCTGTGCC 0.542000 15 249 0 0 1 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831387 2831387 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:2831387G>A ENST00000356331.5 + 8 1015 c.754G>A c.(754-756)Gag>Aag p.E252K SH3BP2_ENST00000511747.1_Missense_Mutation_p.E252K|SH3BP2_ENST00000452765.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000435136.2_Missense_Mutation_p.E252K|SH3BP2_ENST00000442312.2_Missense_Mutation_p.E280K|SH3BP2_ENST00000503393.2_Missense_Mutation_p.E309K|SH3BP2_ENST00000515183.1_3'UTR NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 252 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CCTGGCTGCTGAGGACTCCAA 0.677000 Cherubism 6 49 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186971086 186971086 + Missense_Mutation SNP T T G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:186971086T>G ENST00000337774.5 - 6 1151 c.762A>C c.(760-762)aaA>aaC p.K254N MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 254 CUB 2.|Interaction with FCN2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.K254N(2)|p.K254K(2) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GCCCCAAAACTTTTGGACCAA 0.498000 21 230 0 0 1 0 0 PRPF4 9128 broad.mit.edu 37 9 116048543 116048543 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr9:116048543G>A ENST00000374199.4 + 8 1182 c.781G>A c.(781-783)Gat>Aat p.D261N PRPF4_ENST00000374198.4_Missense_Mutation_p.D262N O43172 PRP4_HUMAN pre-mRNA processing factor 4 262 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GTCTGTTCCTGATTGCAACCT 0.443000 12 143 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122625503 122625503 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:122625503C>T ENST00000319080.6 + 16 2643 c.2511C>T c.(2509-2511)ttC>ttT p.F837F MLXIP_ENST00000538698.1_Silent_p.F444F Q9HAP2 MLXIP_HUMAN MLX interacting protein 837 Mediates heterotypic interactions between MLXIP and MLX and is 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) CACTGCAGTTCAGCATCATCA 0.607000 18 79 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138820219 138820219 + Silent SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:138820219G>C ENST00000370557.1 - 28 4162 c.3135C>G c.(3133-3135)ctC>ctG p.L1045L ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.L1051L|ATP11C_ENST00000327569.3_Silent_p.L1051L|ATP11C_ENST00000361648.2_Silent_p.L1051L|ATP11C_ENST00000359686.2_Silent_p.L1051L Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 1051 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TCTGTTGCTTGAGAAAAGGCC 0.333000 4 77 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835662 247835662 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:247835662C>T ENST00000359688.2 - 1 703 c.682G>A c.(682-684)Gta>Ata p.V228I RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTGCCTTCTACTGTGCGGATA 0.453000 9 91 0 0 1 0 0 ADIG 149685 broad.mit.edu 37 20 37214687 37214687 + Missense_Mutation SNP A A T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr20:37214687A>T ENST00000537425.1 + 2 196 c.125A>T c.(124-126)gAc>gTc p.D42V NM_001018082.1 NP_001018092.1 Q0VDE8 ADIG_HUMAN adipogenin 47 brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation cytoplasm|integral to membrane|nucleus endometrium(1)|kidney(1) 2 Myeloproliferative disorder(115;0.00878) GAGGAAAATGACTCCAGTGTG 0.587000 6 15 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36370086 36370086 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:36370086G>C ENST00000221891.4 + 16 2016 c.1824G>C c.(1822-1824)aaG>aaC p.K608N APLP1_ENST00000586861.1_Missense_Mutation_p.K601N|APLP1_ENST00000537454.2_Missense_Mutation_p.K568N NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 607 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 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) GCAGGAAGAAGCCCTACGGGG 0.652000 5 79 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986156 61986156 + Silent SNP A A G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr13:61986156A>G ENST00000409186.1 - 5 4181 c.2076T>C c.(2074-2076)ggT>ggC p.G692G PCDH20_ENST00000409204.4_Silent_p.G692G Q8N6Y1 PCD20_HUMAN protocadherin 20 665 Cadherin 5. 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) CCCTCAGCATACCCTTTCCTG 0.488000 24 79 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56504321 56504321 + Missense_Mutation SNP T T C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:56504321T>C ENST00000370754.5 - 20 2686 c.2687A>G c.(2686-2688)aAa>aGa p.K896R DST_ENST00000370765.6_Missense_Mutation_p.K392R|DST_ENST00000312431.6_Missense_Mutation_p.K718R|DST_ENST00000370769.4_Missense_Mutation_p.K718R|DST_ENST00000361203.3_Missense_Mutation_p.K718R|DST_ENST00000370788.2_Missense_Mutation_p.K718R|DST_ENST00000518935.1_Missense_Mutation_p.K392R|DST_ENST00000421834.2_Missense_Mutation_p.K718R|DST_ENST00000446842.2_Missense_Mutation_p.K392R|DST_ENST00000244364.6_Missense_Mutation_p.K392R Q03001 DYST_HUMAN dystonin 718 SH3. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTCCTCTTCTTTTTCATTCAA 0.378000 39 116 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76872081 76872081 + Splice_Site SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:76872081C>A ENST00000373344.5 - 22 5780 c.5566_splice c.e22+1 p.G1856_splice ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1818_splice NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1856 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TATTGTTTACCTGTTAAGTGA 0.323000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 19 231 5.26018e-13 6.05134e-13 1 1 0 C7orf63 79846 broad.mit.edu 37 7 89891339 89891339 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:89891339G>A ENST00000389297.4 + 4 576 c.325G>A c.(325-327)Gaa>Aaa p.E109K C7orf63_ENST00000316089.8_Missense_Mutation_p.E109K|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.E109K NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 109 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TCGTTTTATAGAATCTGCATA 0.264000 8 143 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88307720 88307720 + Missense_Mutation SNP T T C rs145337179 byFrequency TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr9:88307720T>C ENST00000357081.3 - 3 185 c.41A>G c.(40-42)aAt>aGt p.N14S AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N14S|AGTPBP1_ENST00000376081.4_Missense_Mutation_p.N14S|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N66S Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 14 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 CCTAGAATTATTGGTAAGGCT 0.363000 10 45 0 0 1 0 0 TM6SF2 53345 broad.mit.edu 37 19 19377413 19377413 + Silent SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:19377413C>G ENST00000389363.4 - 9 882 c.810G>C c.(808-810)ctG>ctC p.L270L AC138430.4_ENST00000586064.2_RNA NM_001001524.2 NP_001001524.2 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 270 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) ACATGTACATCAGCATCTGCA 0.607000 5 23 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33015613 33015613 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr14:33015613C>G ENST00000280979.4 + 4 1924 c.1754C>G c.(1753-1755)tCt>tGt p.S585C AKAP6_ENST00000557272.1_Missense_Mutation_p.S585C|AKAP6_ENST00000557354.1_Missense_Mutation_p.S585C NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 585 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGTGAATCCTCTGTTGGCTCA 0.448000 21 99 0 0 1 0 0 UNC13B 10497 broad.mit.edu 37 9 35243359 35243359 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr9:35243359G>C ENST00000378495.3 + 6 688 c.466G>C c.(466-468)Gag>Cag p.E156Q UNC13B_ENST00000396787.1_Missense_Mutation_p.E156Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.E156Q NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 156 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGCTGACAATGAGGTAGGAGC 0.448000 10 81 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66467891 66467891 + Silent SNP G G A rs55882537 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:66467891G>A ENST00000273854.3 - 3 978 c.378C>T c.(376-378)atC>atT p.I126I EPHA5_ENST00000432638.2_Silent_p.I126I|EPHA5_ENST00000511294.1_Silent_p.I126I|EPHA5_ENST00000354839.4_Silent_p.I126I NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 126 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTTCTATGAAGATTCTGGAAG 0.438000 TSP Lung(17;0.13) 8 127 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21422676 21422676 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr18:21422676G>A ENST00000313654.9 + 29 3806 c.3565G>A c.(3565-3567)Gca>Aca p.A1189T LAMA3_ENST00000399516.3_Missense_Mutation_p.A1189T NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1189 Domain IV 1 (domain IV B). 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) TGAAGTGGCCGCAACTGTGAA 0.547000 15 94 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118363941 118363941 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:118363941C>G ENST00000534358.1 + 16 5197 c.5174C>G c.(5173-5175)tCt>tGt p.S1725C KMT2A_ENST00000354520.4_Missense_Mutation_p.S1684C|KMT2A_ENST00000389506.5_Missense_Mutation_p.S1722C NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AATTACACATCTGTGGTATGT 0.413000 10 84 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210012466 210012466 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:210012466C>G ENST00000491415.2 + 7 1332 c.1275C>G c.(1273-1275)ttC>ttG p.F425L NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 425 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 ATGACCACTTCAGGATTGGTA 0.438000 14 42 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102785104 102785104 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:102785104G>C ENST00000410023.1 + 7 1020 c.702G>C c.(700-702)gaG>gaC p.E234D IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.E234D|IL1R1_ENST00000409329.1_Missense_Mutation_p.E234D|IL1R1_ENST00000424272.1_Missense_Mutation_p.E234D|IL1R1_ENST00000233946.3_Missense_Mutation_p.E234D|IL1R1_ENST00000409929.1_Missense_Mutation_p.E234D P14778 IL1R1_HUMAN interleukin 1 receptor, type I 234 Ig-like C2-type 3. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CAGCTAATGAGACAATGGAAG 0.373000 15 125 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29414440 29414440 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:29414440G>A ENST00000378993.1 + 4 1101 c.428G>A c.(427-429)tGc>tAc p.C143Y IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.C143Y NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 143 Ig-like C2-type 2. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 ACTGGACTCTGCTATAATTCC 0.388000 7 101 0 0 1 0 0 EPN3 55040 broad.mit.edu 37 17 48613940 48613940 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr17:48613940G>T ENST00000268933.3 + 2 602 c.23G>T c.(22-24)cGc>cTc p.R8L EPN3_ENST00000537145.1_Silent_p.A90A|EPN3_ENST00000541226.1_5'UTR NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 8 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) GCACTCCGGCGCCAGGTGAAG 0.657000 4 69 0.000602214 0.000633556 1 1 0 RELN 5649 broad.mit.edu 37 7 103251214 103251214 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:103251214G>A ENST00000428762.1 - 22 3095 c.2936C>T c.(2935-2937)tCa>tTa p.S979L RELN_ENST00000424685.2_Missense_Mutation_p.S979L|RELN_ENST00000343529.5_Missense_Mutation_p.S979L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 979 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) AATACTTGCTGATGTAAATTC 0.418000 15 254 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36162722 36162722 + Missense_Mutation SNP T T A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:36162722T>A ENST00000378660.1 + 11 1493 c.1305T>A c.(1303-1305)agT>agA p.S435R CHDC2_ENST00000313548.4_Missense_Mutation_p.S435R calponin homology domain containing 2 caggagtcagtggcctgagaa 0.488000 6 49 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94049930 94049930 + Silent SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:94049930C>A ENST00000297268.6 + 37 2736 c.2265C>A c.(2263-2265)ccC>ccA p.P755P NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 755 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) TTGTTGGTCCCACAGGCCCCG 0.498000 HNSCC(75;0.22) 5 25 0.014758 0.0150777 1 1 0 PSG6 5675 broad.mit.edu 37 19 43420318 43420318 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:43420318C>A ENST00000601833.1 - 2 1456 c.173G>T c.(172-174)gGg>gTg p.G58V PSG6_ENST00000187910.2_Missense_Mutation_p.G129V|PSG6_ENST00000292125.2_Missense_Mutation_p.G129V|PSG6_ENST00000402603.4_Missense_Mutation_p.G129V pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TCCTCCAGTCCCATCGCCTCG 0.493000 26 129 9.86323e-18 1.14397e-17 1 1 0 CDK15 65061 broad.mit.edu 37 2 202677239 202677239 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:202677239C>T ENST00000450471.2 + 4 488 c.402C>T c.(400-402)atC>atT p.I134I CDK15_ENST00000434439.1_Silent_p.I134I|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Silent_p.I83I|CDK15_ENST00000374598.4_Silent_p.I134I|CDK15_ENST00000410091.3_Silent_p.I83I NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 134 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) TAAAAGTCATCAGCATGAATG 0.413000 11 146 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196722214 196722214 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:196722214G>A ENST00000312428.6 - 44 8401 c.8301C>T c.(8299-8301)atC>atT p.I2767I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2767 Stalk (By similarity). 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 TTTTTCTTATGATATTCATAT 0.393000 4 80 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292770 102292770 + RNA SNP C C T rs149751844 by1000genomes TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr15:102292770C>T ENST00000561463.1 + 0 816 AGCGGCGCGACGAGATGCTGC 0.597000 6 35 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481238 140481238 + Silent SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr5:140481238C>A ENST00000231130.2 + 1 1005 c.1005C>A c.(1003-1005)gtC>gtA p.V335V AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 335 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTCATAGTCCAGGTGGTTG 0.463000 5 73 2.0095e-06 2.20422e-06 1 1 0 CPSF7 79869 broad.mit.edu 37 11 61183152 61183152 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:61183152G>C ENST00000340437.4 - 7 1279 c.1199C>G c.(1198-1200)tCt>tGt p.S400C CPSF7_ENST00000448745.1_Missense_Mutation_p.S348C|CPSF7_ENST00000439958.3_Missense_Mutation_p.S348C|CPSF7_ENST00000394888.4_Missense_Mutation_p.S357C NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 357 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 ACTGGCTCCAGATACTGCTTT 0.443000 6 74 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52758751 52758751 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:52758751C>A ENST00000257901.3 - 2 699 c.624G>T c.(622-624)aaG>aaT p.K208N NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 208 Coil 1B.|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) CTCACTTCTTCTTGTAGCCCT 0.607000 7 132 0.00198382 0.00206405 1 1 0 LMF2 91289 broad.mit.edu 37 22 50943396 50943396 + Silent SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr22:50943396C>A ENST00000216080.5 - 10 1365 c.1197G>T c.(1195-1197)gtG>gtT p.V399V LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Silent_p.V424V Q9BU23 LMF2_HUMAN lipase maturation factor 2 424 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) TCCCGGGCTCCACGTAGGAGT 0.692000 4 11 0.00024832 0.00026419 1 1 0 ABT1 29777 broad.mit.edu 37 6 26597380 26597380 + Missense_Mutation SNP T T A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:26597380T>A ENST00000274849.1 + 1 201 c.170T>A c.(169-171)tTc>tAc p.F57Y NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 57 RRM. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 CCGCCGCGCTTCCGGCCCCTG 0.622000 4 31 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72134001 72134001 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr13:72134001G>A ENST00000305425.4 - 5 1814 c.1392C>T c.(1390-1392)agC>agT p.S464S DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Silent_p.S516S|DACH1_ENST00000313174.7_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 514 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGGACACGCTGCTGCTGCGAT 0.547000 8 26 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20101610 20101610 + Splice_Site SNP G G T rs143296630 byFrequency TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:20101610G>T ENST00000396085.1 + 25 5541 c.5179_splice c.e25-1 p.G1727_splice NAV2_ENST00000349880.4_Splice_Site_p.G1727_splice|NAV2_ENST00000360655.4_Splice_Site_p.G1663_splice|NAV2_ENST00000396087.3_Splice_Site_p.G1783_splice|NAV2_ENST00000533917.1_Splice_Site_p.G791_splice|NAV2_ENST00000527559.2_Splice_Site_p.G1712_splice|NAV2_ENST00000311043.8_Splice_Site_p.G791_splice|NAV2_ENST00000540292.1_Splice_Site_p.G1714_splice NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1783 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TGGTCTCCAGGAAACGGCACT 0.577000 7 46 8.12818e-05 8.7463e-05 1 1 0 UCP3 7352 broad.mit.edu 37 11 73716916 73716916 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:73716916C>A ENST00000314032.4 - 4 952 c.400G>T c.(400-402)Gcc>Tcc p.A134S UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Missense_Mutation_p.A134S NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 134 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) GTGGGCTGGGCACAGGTCACC 0.612000 7 59 0.0293803 0.0298016 1 1 0 COG7 91949 broad.mit.edu 37 16 23436185 23436185 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:23436185G>A ENST00000307149.5 - 7 1079 c.894C>T c.(892-894)ctC>ctT p.L298L NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 298 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) CGCCGTTGCTGAGGCAGGAGG 0.647000 9 71 0 0 1 0 0 RP11-383M4.6 0 broad.mit.edu 37 9 84547870 84547870 + RNA SNP T T C rs138226188 by1000genomes TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr9:84547870T>C ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA CGTGAACCCATAGAAATCTTC 0.428000 3 10 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135286949 135286949 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr5:135286949C>G ENST00000274507.1 - 3 452 c.252G>C c.(250-252)aaG>aaC p.K84N LECT2_ENST00000512872.1_Missense_Mutation_p.K12N|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000514447.2_Missense_Mutation_p.K84N|LECT2_ENST00000522943.1_Missense_Mutation_p.K84N|LECT2_ENST00000471827.1_5'UTR NM_002302.2 NP_002293.2 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 84 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGATAGCATTCTTGTTTTGAT 0.463000 8 55 0 0 1 0 0 RTKN 6242 broad.mit.edu 37 2 74654356 74654356 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:74654356G>C ENST00000305557.5 - 12 1846 c.1261C>G c.(1261-1263)Cct>Gct p.P421A RTKN_ENST00000272430.5_Missense_Mutation_p.P434A|RTKN_ENST00000233330.6_Missense_Mutation_p.P384A NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 434 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 CGGGGAGCAGGAGTTTCAATT 0.502000 7 86 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49067981 49067981 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:49067981G>C ENST00000395443.2 - 10 2707 c.2235C>G c.(2233-2235)atC>atG p.I745M QRICH1_ENST00000357496.2_Missense_Mutation_p.I745M|QRICH1_ENST00000424300.1_Missense_Mutation_p.I745M NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 745 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCTCTCTGCTGATAGGCTGGA 0.547000 3 64 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57425789 57425789 + Silent SNP T T C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:57425789T>C ENST00000371237.4 - 2 219 c.153A>G c.(151-153)agA>agG p.R51R C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR NM_000066.2 NP_000057.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 51 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TCCGCATCTGTCTGCTCTTAG 0.463000 4 73 0 0 1 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159618 242159618 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:242159618C>T ENST00000357246.3 - 4 355 c.291G>A c.(289-291)atG>atA p.M97I NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 97 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGGTTGCGCTCATGCTGACCA 0.562000 16 151 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36766906 36766906 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:36766906G>A ENST00000399881.3 + 21 2221 c.2184G>A c.(2182-2184)ccG>ccA p.P728P NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 728 Segment S9. voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.P728P(5) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACTCAGCCCCGATGGGGCTTC 0.468000 12 538 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56310057 56310057 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:56310057C>T ENST00000528616.2 - 1 700 c.677G>A c.(676-678)cGg>cAg p.R226Q NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TGATTTGATCCGGAGGATGGC 0.493000 9 62 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31318539 31318539 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr18:31318539G>T ENST00000269197.5 + 11 1171 c.1171G>T c.(1171-1173)Ggc>Tgc p.G391C NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGGGACTTCTGGCCTTCCAGT 0.498000 4 34 0.00024832 0.00026419 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76486617 76486617 + Silent SNP T T A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:76486617T>A ENST00000307431.8 + 9 1666 c.1281T>A c.(1279-1281)ctT>ctA p.L427L CNTNAP4_ENST00000478060.1_Silent_p.L355L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.L379L|CNTNAP4_ENST00000476707.1_Silent_p.L431L NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 428 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ATGGAAAACTTAAGTCGAATC 0.418000 5 53 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144643207 144643207 + Silent SNP G G A rs145648319 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:144643207G>A ENST00000526406.1 + 8 1498 c.615G>A c.(613-615)acG>acA p.T205T GSDMD_ENST00000533063.1_Silent_p.T253T|GSDMD_ENST00000262580.4_Silent_p.T205T NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 205 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 AGAAGAAGACGGTCACCATCC 0.687000 9 41 0 0 1 0 0 CAPN12 147968 broad.mit.edu 37 19 39221800 39221800 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:39221800C>T ENST00000328867.4 - 19 2329 c.2021G>A c.(2020-2022)cGt>cAt p.R674H CAPN12_ENST00000601953.1_Missense_Mutation_p.R525H|ACTN4_ENST00000252699.2_3'UTR NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 674 Domain IV. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GAAGTCCACACGCAGACGGCT 0.647000 3 38 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135038267 135038267 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr10:135038267G>A ENST00000304613.3 + 30 5144 c.5123G>A c.(5122-5124)cGc>cAc p.R1708H KNDC1_ENST00000368572.2_Missense_Mutation_p.R1710H Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1708 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.R1708H(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGGATTGCCCGCTTCAGCGGT 0.587000 8 38 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92436038 92436038 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr14:92436038C>T ENST00000267622.4 - 21 6292 c.5919G>A c.(5917-5919)ctG>ctA p.L1973L NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1973 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) AAAGGTCTTTCAGCACAACCC 0.438000 T PDGFRB AML 11 95 0 0 1 0 0 CALM3 808 broad.mit.edu 37 19 47111501 47111501 + Missense_Mutation SNP A A G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:47111501A>G ENST00000291295.9 + 3 281 c.82A>G c.(82-84)Atc>Gtc p.I28V CALM3_ENST00000596362.1_Missense_Mutation_p.I28V|CALM3_ENST00000598871.1_5'UTR|CALM3_ENST00000599839.1_5'UTR|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000597743.1_Missense_Mutation_p.I28V|CALM3_ENST00000391918.2_5'UTR|CALM3_ENST00000594523.1_5'UTR NM_005184.2 NP_005175.2 P62158 CALM_HUMAN calmodulin 3 (phosphorylase kinase, delta) 28 EF-hand 1. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1) 6 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) AGATGGCACTATCACCACCAA 0.537000 22 73 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518519 129518519 + Silent SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:129518519G>C ENST00000276218.2 - 1 992 c.903C>G c.(901-903)ctC>ctG p.L301L NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 301 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 GGAATGAGGTGAGCACCTTCT 0.552000 7 85 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121837952 121837952 + Translation_Start_Site SNP T T A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:121837952T>A ENST00000361234.5 + 0 109 RNF34_ENST00000392464.2_De_novo_Start_InFrame|RNF34_ENST00000392465.3_De_novo_Start_InFrame|RNF34_ENST00000555076.1_De_novo_Start_InFrame NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) AGGTCGGCAGTGTGAGGAGCT 0.701000 3 7 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52645124 52645124 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr20:52645124G>T ENST00000395961.3 - 4 696 c.530C>A c.(529-531)aCa>aAa p.T177K BCAS1_ENST00000411563.1_Missense_Mutation_p.T80K|BCAS1_ENST00000371435.2_Missense_Mutation_p.T177K|BCAS1_ENST00000371440.3_Missense_Mutation_p.T177K NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 177 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGCTCCCCCTGTCTCAGGTGG 0.602000 8 148 5.18039e-06 5.66043e-06 1 1 0 RLTPR 146206 broad.mit.edu 37 16 67684046 67684046 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:67684046C>T ENST00000334583.6 + 22 2505 c.2177C>T c.(2176-2178)tCa>tTa p.S726L RLTPR_ENST00000545661.1_Missense_Mutation_p.S690L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 726 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TCAGACCCCTCAGAGCAGGTC 0.602000 5 11 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102826059 102826059 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:102826059C>G ENST00000260302.3 - 2 312 c.284G>C c.(283-285)aGa>aCa p.R95T MMP13_ENST00000340273.4_Missense_Mutation_p.R95T NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 95 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AACCCCGCATCTTGGCTTTTT 0.428000 21 132 0 0 1 0 0 C11orf72 100505621 broad.mit.edu 37 11 67372240 67372240 + Nonsense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:67372240G>A ENST00000333139.3 - 3 541 c.301C>T c.(301-303)Caa>Taa p.Q101* C11orf72_ENST00000446232.1_Nonsense_Mutation_p.Q101* Q8NBR9 CK072_HUMAN chromosome 11 open reading frame 72 101 central_nervous_system(1)|lung(2)|stomach(1) 4 aggtaaagttgaccagataga 0.542000 6 31 0 0 1 0 0 WDHD1 11169 broad.mit.edu 37 14 55429793 55429793 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr14:55429793G>C ENST00000360586.3 - 19 2473 c.2408C>G c.(2407-2409)tCt>tGt p.S803C WDHD1_ENST00000420358.2_Missense_Mutation_p.S680C|WDHD1_ENST00000359167.4_Missense_Mutation_p.S321C|WDHD1_ENST00000421192.1_Missense_Mutation_p.S680C NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 803 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 TAATTTCCGAGAGCGAGAAGC 0.418000 12 59 0 0 1 0 0 ICT1 3396 broad.mit.edu 37 17 73016661 73016661 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr17:73016661G>A ENST00000301585.5 + 5 458 c.445G>A c.(445-447)Gat>Aat p.D149N NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 149 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) GAATCTGGCAGATTGCCTGCA 0.453000 6 64 0 0 1 0 0 ERLIN2 11160 broad.mit.edu 37 8 37607144 37607144 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:37607144C>T ENST00000276461.5 + 7 559 c.492C>T c.(490-492)gtC>gtT p.V164V ERLIN2_ENST00000519638.1_Silent_p.V164V NM_007175.6 NP_009106.1 O94905 ERLN2_HUMAN ER lipid raft associated 2 164 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding NS(1)|large_intestine(1)|lung(5) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CTGGGCTGGTCATTCAAGTAA 0.488000 65 198 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2921635 2921635 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr18:2921635C>T ENST00000261596.4 - 18 2576 c.2338G>A c.(2338-2340)Gaa>Aaa p.E780K NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 780 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGTTTCTTTTCTATCACTTCT 0.398000 12 48 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66384409 66384409 + Silent SNP A A C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:66384409A>C ENST00000329654.4 + 3 359 c.172A>C c.(172-174)Aga>Cga p.R58R PDE4B_ENST00000371049.3_Silent_p.R58R NM_001037341.1 NP_001032418.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 58 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ACTGTCTCAAAGACAGAGTGA 0.483000 7 60 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179989910 179989910 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:179989910G>A ENST00000367607.3 + 12 3419 c.3001G>A c.(3001-3003)Gat>Aat p.D1001N NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1001 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 GGGAGACCAGGATGGACAGCC 0.408000 9 104 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20682903 20682903 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:20682903G>A ENST00000404938.2 + 6 1063 c.411G>A c.(409-411)aaG>aaA p.K137K NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 321 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GACAGACCAAGAGGATTCGAA 0.423000 4 47 0 0 1 0 0 ESD 2098 broad.mit.edu 37 13 47354167 47354167 + Splice_Site SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr13:47354167G>A ENST00000378720.3 - 8 685 c.501_splice c.e8-1 p.S168_splice ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Splice_Site_p.S139_splice NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 168 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) TGCTGACACAGACTTCAGAAA 0.318000 25 94 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172046834 172046834 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:172046834C>A ENST00000336824.4 + 12 1446 c.1347C>A c.(1345-1347)ttC>ttA p.F449L FNDC3B_ENST00000416957.1_Missense_Mutation_p.F449L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.F449L NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 449 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GGTACACATTCAGGCTGGCCG 0.483000 5 174 0.000602214 0.000633556 1 1 0 SLC30A6 55676 broad.mit.edu 37 2 32434586 32434586 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:32434586G>A ENST00000282587.5 + 13 878 c.841G>A c.(841-843)Gaa>Aaa p.E281K SLC30A6_ENST00000435660.1_Intron|SLC30A6_ENST00000406369.1_Missense_Mutation_p.E207K|SLC30A6_ENST00000379343.2_Missense_Mutation_p.E321K|SLC30A6_ENST00000357055.3_Missense_Mutation_p.E84K|SLC30A6_ENST00000538303.1_Missense_Mutation_p.E252K NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 281 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGGAGTTTTAGAAGTCCGAAA 0.328000 14 129 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 24844702 24844702 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:24844702C>T ENST00000379068.3 + 32 3763 c.3720C>T c.(3718-3720)ctC>ctT p.L1240L POLA1_ENST00000379059.3_Silent_p.L1234L P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 1234 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) ATGCTGTCCTCATTGCAACGT 0.493000 3 30 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75839860 75839860 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:75839860G>C ENST00000322507.8 - 37 6466 c.6157C>G c.(6157-6159)Cag>Gag p.Q2053E COL12A1_ENST00000345356.6_Missense_Mutation_p.Q889E|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2053E|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2053E NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2053 Fibronectin type-III 16. 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 CTGTACTGCTGAACTGGCCCA 0.423000 6 68 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208458 58208458 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr13:58208458C>T ENST00000377918.3 + 1 1804 c.1778C>T c.(1777-1779)gCg>gTg p.A593V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 593 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AACGACACCGCGGAGCTGCAG 0.657000 7 48 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 647878 647878 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:647878G>C ENST00000255622.6 + 5 905 c.862G>C c.(862-864)Gac>Cac p.D288H RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.D288H|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.D9H NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 288 GAF 2. 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 GGAATTTTTTGACGTGTGGTC 0.667000 6 75 0 0 1 0 0 MPP6 51678 broad.mit.edu 37 7 24720071 24720071 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:24720071G>A ENST00000396475.2 + 12 1677 c.1378G>A c.(1378-1380)Gag>Aag p.E460K MPP6_ENST00000222644.4_Missense_Mutation_p.E460K|MPP6_ENST00000409761.1_Missense_Mutation_p.E348K NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 460 Guanylate kinase-like. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TGCGGCTCCGGAGCTAGAGAC 0.413000 21 110 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15325940 15325940 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr10:15325940C>A ENST00000378116.4 - 2 268 c.262G>T c.(262-264)Gtc>Ttc p.V88F NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 88 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GAGGCGGTGACAATCAACTGA 0.542000 12 75 1.49906e-05 1.62542e-05 1 1 0 FLNC 2318 broad.mit.edu 37 7 128489448 128489448 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:128489448C>A ENST00000325888.8 + 30 5276 c.5015C>A c.(5014-5016)gCa>gAa p.A1672E FLNC_ENST00000346177.6_Missense_Mutation_p.A1672E NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1672 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GATGCCAAGGCAGCCGGTGAG 0.617000 5 47 0.0215528 0.0219404 1 1 0 ZNF10 7556 broad.mit.edu 37 12 133727683 133727683 + Nonsense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:133727683C>T ENST00000248211.6 + 3 325 c.103C>T c.(103-105)Cag>Tag p.Q35* ZNF268_ENST00000416488.1_Nonsense_Mutation_p.Q35*|CTD-2140B24.4_ENST00000540096.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000402932.2_Nonsense_Mutation_p.Q35*|ZNF10_ENST00000540927.1_3'UTR NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GGACACTGCTCAGCAGATCGT 0.443000 16 90 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66276608 66276608 + Missense_Mutation SNP C C G rs139936930 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:66276608C>G ENST00000532677.1 + 18 2558 c.2157C>G c.(2155-2157)ttC>ttG p.F719L DPP3_ENST00000530165.1_Missense_Mutation_p.F670L|DPP3_ENST00000531863.1_Missense_Mutation_p.F720L|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.F700L|DPP3_ENST00000541961.1_Missense_Mutation_p.F700L|DPP3_ENST00000453114.1_Missense_Mutation_p.F700L NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 700 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity p.F700F(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCCGATCCTTCTCTGAGCGTT 0.592000 9 53 0 0 1 0 0 NAE1 8883 broad.mit.edu 37 16 66847750 66847750 + Splice_Site SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:66847750C>A ENST00000379463.2 - 13 1015 c.e13-1 NAE1_ENST00000394074.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TGCTTGGGATCTAACAAAGGA 0.303000 4 70 1 1 1 1 0 UBE2D4 51619 broad.mit.edu 37 7 43992254 43992254 + Missense_Mutation SNP A A T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:43992254A>T ENST00000222402.2 + 7 493 c.404A>T c.(403-405)aAc>aTc p.N135I UBE2D4_ENST00000394798.4_Missense_Mutation_p.N97I|POLR2J4_ENST00000427076.1_RNA NM_015983.3 NP_057067.1 Q9Y2X8 UB2D4_HUMAN ubiquitin-conjugating enzyme E2D 4 (putative) 135 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 TCCAGGTACAACAGACTAGCA 0.463000 5 156 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35393642 35393642 + Missense_Mutation SNP A A T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:35393642A>T ENST00000311565.4 + 9 1461 c.1112A>T c.(1111-1113)gAg>gTg p.E371V PPARD_ENST00000448077.2_Missense_Mutation_p.E332V|PPARD_ENST00000418635.2_Missense_Mutation_p.E273V|PPARD_ENST00000360694.3_Missense_Mutation_p.E371V|PPARD_ENST00000540939.1_Missense_Mutation_p.E268V NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 371 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) CCACGGGTGGAGGCTATCCAG 0.622000 8 64 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86794265 86794265 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:86794265C>G ENST00000394703.5 + 5 571 c.8C>G c.(7-9)aCa>aGa p.T3R DMTF1_ENST00000413276.2_Missense_Mutation_p.T3R|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.T3R|DMTF1_ENST00000411766.2_Missense_Mutation_p.T3R|DMTF1_ENST00000394702.3_Missense_Mutation_p.T3R NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 3 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) AGTATGAGCACAGTGGAAGAG 0.393000 8 118 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49088077 49088077 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:49088077G>T ENST00000261900.3 - 9 1142 c.920C>A c.(919-921)aCa>aAa p.T307K NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 307 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 CACTGCACTTGTGGTAGAAGT 0.488000 7 79 0.000157383 0.00016871 1 1 0 LHFPL5 222662 broad.mit.edu 37 6 35773541 35773541 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:35773541C>G ENST00000360215.1 + 1 471 c.94C>G c.(94-96)Ctc>Gtc p.L32V LHFPL5_ENST00000373853.1_Missense_Mutation_p.L32V NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 32 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 GTGGGGTACCCTCACCATCTG 0.592000 31 111 0 0 1 0 0 GPR15 2838 broad.mit.edu 37 3 98251898 98251898 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:98251898C>G ENST00000284311.3 + 1 1156 c.1021C>G c.(1021-1023)Ctc>Gtc p.L341V NM_005290.1 NP_005281.1 P49685 GPR15_HUMAN G protein-coupled receptor 15 341 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CACTAAGGCTCTCTCCACCTT 0.488000 16 67 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063268 9063268 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:9063268C>T ENST00000397910.4 - 3 24381 c.24178G>A c.(24178-24180)Gat>Aat p.D8060N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8062 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 GTCCCCACATCGGTCACTGTT 0.463000 25 91 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71444826 71444826 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr14:71444826C>A ENST00000304743.2 + 6 2218 c.1772C>A c.(1771-1773)cCa>cAa p.P591Q PCNX_ENST00000238570.5_Missense_Mutation_p.P591Q|PCNX_ENST00000439984.3_Missense_Mutation_p.P591Q NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 591 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GGTACCAAGCCACACAGTGCT 0.468000 14 114 7.93312e-07 8.80421e-07 1 1 0 FBXO30 84085 broad.mit.edu 37 6 146126695 146126695 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:146126695G>C ENST00000237281.4 - 2 1013 c.847C>G c.(847-849)Ctt>Gtt p.L283V NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 283 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) CCATTACAAAGAGCAGAAGTG 0.338000 4 178 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201400850 201400850 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:201400850G>A ENST00000357799.4 + 4 470 c.372G>A c.(370-372)atG>atA p.M124I SGOL2_ENST00000469840.1_3'UTR|SGOL2_ENST00000409203.3_Missense_Mutation_p.M124I NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 124 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 CAATTGAAATGAGCAGTCTTT 0.308000 25 150 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100087130 100087130 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:100087130G>C ENST00000423930.1 + 4 1945 c.1786G>C c.(1786-1788)Gat>Cat p.D596H NYAP1_ENST00000454988.1_Missense_Mutation_p.D539H|NYAP1_ENST00000300179.2_Missense_Mutation_p.D596H Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 596 GCAAGGGACCGATGGGGGTGC 0.637000 5 137 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63576113 63576113 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:63576113C>T ENST00000374852.3 - 3 320 c.253G>A c.(253-255)Gat>Aat p.D85N MTMR8_ENST00000453546.1_Missense_Mutation_p.D85N NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 85 nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AGGTCAGAATCTAAAACAAAG 0.428000 4 39 0 0 1 0 0 SCGB1D4 404552 broad.mit.edu 37 11 62065028 62065028 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:62065028G>T ENST00000358585.1 - 2 211 c.158C>A c.(157-159)cCa>cAa p.P53Q NM_206998.1 NP_996881.1 Q6XE38 SG1D4_HUMAN secretoglobin, family 1D, member 4 53 extracellular region binding lung(1)|prostate(1) 2 AAGAGCTTCTGGAGGTGGATT 0.443000 24 234 1.10923e-09 1.26578e-09 1 1 0 DAZAP1 26528 broad.mit.edu 37 19 1422393 1422393 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:1422393G>A ENST00000336761.6 + 6 666 c.461G>A c.(460-462)cGa>cAa p.R154Q DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.R154Q NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 154 RRM 2. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 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) CAGAGGCCCCGAGGTAAGGGC 0.612000 11 107 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9801975 9801975 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:9801975G>C ENST00000256190.8 - 40 5677 c.5540C>G c.(5539-5541)tCt>tGt p.S1847C SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1847 PH. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TCAGGCATCAGAGATACAACT 0.478000 6 42 0 0 1 0 0 CDK6 1021 broad.mit.edu 37 7 92355095 92355095 + Nonsense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:92355095G>A ENST00000265734.4 - 4 793 c.382C>T c.(382-384)Cag>Tag p.Q128* CDK6_ENST00000424848.2_Nonsense_Mutation_p.Q128* NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 128 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CGGAGAAGCTGAAACATCATA 0.403000 T MLLT10 ALL 7 188 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133846 57133846 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:57133846C>T ENST00000328070.6 + 3 1425 c.1191C>T c.(1189-1191)ctC>ctT p.L397L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 397 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCTCGTCCCTCATCGTGCACC 0.637000 6 82 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 31012227 31012227 + Missense_Mutation SNP A A G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:31012227A>G ENST00000298139.5 + 32 4024 c.3775A>G c.(3775-3777)Atg>Gtg p.M1259V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1259 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTCACAGTCTATGGCCATCAC 0.338000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 74 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103205798 103205798 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:103205798C>T ENST00000428762.1 - 34 5296 c.5137G>A c.(5137-5139)Gaa>Aaa p.E1713K RELN_ENST00000424685.2_Missense_Mutation_p.E1713K|RELN_ENST00000343529.5_Missense_Mutation_p.E1713K NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1713 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) ATTGAACTTTCCGTGTAATGC 0.468000 25 80 0 0 1 0 0 WBP1 23559 broad.mit.edu 37 2 74687518 74687518 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:74687518G>A ENST00000393972.3 + 5 825 c.622G>A c.(622-624)Gaa>Aaa p.E208K WBP1_ENST00000233615.2_Missense_Mutation_p.E174K|WBP1_ENST00000409737.1_Missense_Mutation_p.E171K|WBP1_ENST00000494741.1_3'UTR Q96G27 WBP1_HUMAN WW domain binding protein 1 174 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 AACAAATGTGGAAGGTGTTTC 0.627000 14 155 0 0 1 0 0 RNF2 6045 broad.mit.edu 37 1 185062311 185062311 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:185062311C>A ENST00000367510.3 + 4 655 c.367C>A c.(367-369)Cat>Aat p.H123N RNF2_ENST00000367509.4_Intron NM_007212.3 NP_009143.1 Q99496 RING2_HUMAN ring finger protein 2 123 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2) 14 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) GTATGAAGCTCATCAAGAGAG 0.423000 5 70 0.014758 0.0150777 1 1 0 VWA1 64856 broad.mit.edu 37 1 1372561 1372561 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:1372561G>A ENST00000476993.1 + 2 406 c.328G>A c.(328-330)Gac>Aac p.D110N VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 110 VWFA. basement membrane NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCGCATGGGTGACACCCACAC 0.652000 3 17 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32136680 32136680 + Nonsense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:32136680C>T ENST00000312561.4 + 4 3205 c.2791C>T c.(2791-2793)Cag>Tag p.Q931* KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TCTACCCAATCAGCAAGGGAT 0.388000 16 79 0 0 1 0 0 FAM50A 9130 broad.mit.edu 37 X 153674848 153674848 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:153674848G>C ENST00000393600.3 + 4 492 c.382G>C c.(382-384)Gaa>Caa p.E128Q NM_004699.3 NP_004690.1 Q14320 FA50A_HUMAN family with sequence similarity 50, member A 128 spermatogenesis nucleus breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(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) ggaggaggaagaagagggagg 0.607000 3 30 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43195405 43195405 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr17:43195405G>C ENST00000322765.5 - 7 1329 c.1216C>G c.(1216-1218)Ctc>Gtc p.L406V PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 406 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) TCCCGGAAGAGAATCTTGGAG 0.662000 5 17 0 0 1 0 0 PGA5 5222 broad.mit.edu 37 11 61015925 61015925 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:61015925G>A ENST00000312403.5 + 6 876 c.691G>A c.(691-693)Ggc>Agc p.G231S PGA5_ENST00000451616.2_Missense_Mutation_p.G77S|CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Missense_Mutation_p.G231S NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 231 digestion|proteolysis extracellular region aspartic-type endopeptidase activity large_intestine(1)|skin(1) 2 GATCTTTGGTGGCATTGACTC 0.498000 57 314 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208204977 208204977 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:208204977C>A ENST00000367033.3 - 29 5940 c.5183G>T c.(5182-5184)aGc>aTc p.S1728I NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1728 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GTCATGGATGCTGTGCCTGTC 0.567000 22 110 6.21321e-17 7.17689e-17 1 1 0 TPO 7173 broad.mit.edu 37 2 1507769 1507769 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:1507769G>A ENST00000345913.4 + 14 2527 c.2436G>A c.(2434-2436)gcG>gcA p.A812A TPO_ENST00000382198.1_Silent_p.A639A|TPO_ENST00000382201.3_Silent_p.A755A|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Intron|TPO_ENST00000337415.3_Silent_p.A812A|TPO_ENST00000329066.4_Silent_p.A812A|TPO_ENST00000349624.3_Silent_p.A639A NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 812 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACGCCTCTGCGAGGTGCAGAA 0.622000 7 63 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108324266 108324266 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:108324266C>G ENST00000361582.3 + 2 243 c.13C>G c.(13-15)Cca>Gca p.P5A DZIP3_ENST00000463306.1_Missense_Mutation_p.P5A NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 5 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GGATTCTCTACCAGATGAATT 0.423000 11 65 0 0 1 0 0 CDH15 1013 broad.mit.edu 37 16 89261450 89261450 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr16:89261450G>A ENST00000289746.2 + 14 2397 c.2332G>A c.(2332-2334)Gac>Aac p.D778N NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 778 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCGGCTGGCAGACATGTATGG 0.667000 7 36 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7639514 7639514 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:7639514C>T ENST00000359156.4 - 9 2321 c.2119G>A c.(2119-2121)Gaa>Aaa p.E707K CD163_ENST00000541972.1_Missense_Mutation_p.E695K|CD163_ENST00000396620.3_Missense_Mutation_p.E740K|CD163_ENST00000432237.2_Missense_Mutation_p.E707K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 707 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 GCACTTTCTTCTGGAATGGTA 0.408000 24 98 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112099011 112099011 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:112099011C>G ENST00000403825.3 + 5 766 c.505C>G c.(505-507)Ctt>Gtt p.L169V IFRD1_ENST00000486688.1_3'UTR|IFRD1_ENST00000535603.1_Missense_Mutation_p.L119V|IFRD1_ENST00000005558.4_Missense_Mutation_p.L169V NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 169 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 TTTGAAAACTCTTGGACCAAT 0.388000 8 209 0 0 1 0 0 IFFO1 25900 broad.mit.edu 37 12 6659915 6659915 + Silent SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:6659915C>T ENST00000336604.4 - 3 917 c.876G>A c.(874-876)ctG>ctA p.L292L IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L292L|IFFO1_ENST00000465801.1_5'UTR|IFFO1_ENST00000396840.2_Silent_p.L292L NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 292 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 GTTCCACCTTCAGTGCCAGCT 0.582000 9 40 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103354814 103354814 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:103354814C>G ENST00000520539.1 - 9 1591 c.985G>C c.(985-987)Gat>Cat p.D329H UBR5_ENST00000220959.4_Missense_Mutation_p.D329H|UBR5_ENST00000521922.1_Missense_Mutation_p.D323H NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 329 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) CTTTCATTATCAAATGAGGCT 0.448000 11 157 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79782574 79782574 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:79782574C>T ENST00000335016.5 + 9 1185 c.1019C>T c.(1018-1020)cCg>cTg p.P340L BMP2K_ENST00000502871.1_Missense_Mutation_p.P340L NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 340 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 CTTCCTGAACCGATGACTGCT 0.333000 6 56 0 0 1 0 0 EIF5A 1984 broad.mit.edu 37 17 7214792 7214792 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr17:7214792G>C ENST00000336458.8 + 4 795 c.394G>C c.(394-396)Gag>Cag p.E132Q EIF5A_ENST00000336452.7_Missense_Mutation_p.E162Q|GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000576930.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000419711.2_Missense_Mutation_p.E132Q|EIF5A_ENST00000572815.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000573542.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000571955.1_Missense_Mutation_p.E132Q|EIF5A_ENST00000416016.2_Missense_Mutation_p.E132Q NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 132 induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 CTGTGGAGAAGAGATCCTGGT 0.542000 4 105 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7828326 7828326 + Nonsense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:7828326C>T ENST00000327325.5 + 2 212 c.94C>T c.(94-96)Caa>Taa p.Q32* CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q24*|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000596363.1_Intron NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 32 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 AAGAGACTTTCAATTCCAGCA 0.522000 6 76 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226273608 226273608 + Silent SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:226273608C>G ENST00000272907.6 + 2 425 c.12C>G c.(10-12)tcC>tcG p.S4S NYAP2_ENST00000409269.2_Silent_p.S4S NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 4 TGATATCCTCCAAGATGATGA 0.428000 9 74 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7786082 7786082 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr10:7786082G>A ENST00000358415.4 + 18 2413 c.2247G>A c.(2245-2247)aaG>aaA p.K749K ITIH2_ENST00000379587.4_Silent_p.K738K NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 749 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GTGCCAAGAAGCCCAACAATG 0.383000 19 70 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172586982 172586982 + Nonsense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr5:172586982G>T ENST00000231668.9 + 6 651 c.547G>T c.(547-549)Gag>Tag p.E183* BNIP1_ENST00000393770.4_Nonsense_Mutation_p.E106*|BNIP1_ENST00000351486.5_Nonsense_Mutation_p.E140*|BNIP1_ENST00000352523.6_Nonsense_Mutation_p.E149* NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 140 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TACCATCACTGAGAGCCTCAT 0.542000 5 193 0.014758 0.0150777 1 1 0 TUBA3C 7278 broad.mit.edu 37 13 19753597 19753597 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr13:19753597G>A ENST00000400113.3 - 2 214 c.110C>T c.(109-111)cCa>cTa p.P37L NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 37 '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) TTTATCACTTGGCATCTGACC 0.547000 16 130 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993826 45993826 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr21:45993826C>T ENST00000400374.3 + 1 221 c.191C>T c.(190-192)tCc>tTc p.S64F TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 64 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 AGCCGTGTGTCCAGCCCCTGC 0.716000 13 43 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206166297 206166297 + Silent SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:206166297C>G ENST00000406610.2 + 18 2709 c.2502C>G c.(2500-2502)gtC>gtG p.V834V PARD3B_ENST00000349953.3_Silent_p.V834V|PARD3B_ENST00000462231.1_Silent_p.V834V|PARD3B_ENST00000358768.2_Silent_p.V772V|PARD3B_ENST00000351153.1_Silent_p.V765V NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 834 Lys-rich. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCAGGAAAGTCAAAAAAACga 0.428000 12 48 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38162107 38162107 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr8:38162107C>G ENST00000317025.8 - 14 3126 c.2609G>C c.(2608-2610)aGa>aCa p.R870T WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R870T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R870T NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 870 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) ACACTCACCTCTGGCACAAAC 0.393000 T NUP98 AML 18 294 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99767356 99767356 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:99767356G>C ENST00000370185.3 + 6 1366 c.869G>C c.(868-870)gGa>gCa p.G290A LPPR4_ENST00000370184.1_Missense_Mutation_p.G132A|LPPR4_ENST00000457765.1_Intron NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 290 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATCATCTGTGGAATAATCTGC 0.388000 16 120 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4558249 4558249 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr3:4558249G>A ENST00000302640.8 + 3 424 c.74G>A c.(73-75)gGa>gAa p.G25E ITPR1_ENST00000456211.2_Missense_Mutation_p.G25E|ITPR1_ENST00000354582.6_Missense_Mutation_p.G25E|ITPR1_ENST00000423119.2_Missense_Mutation_p.G25E|ITPR1_ENST00000443694.2_Missense_Mutation_p.G25E|ITPR1_ENST00000357086.4_Missense_Mutation_p.G25E|ITPR1_ENST00000544951.1_Missense_Mutation_p.G25E NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 25 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) TCGACAAATGGATTTATTAGC 0.378000 10 123 0 0 1 0 0 ZNF467 168544 broad.mit.edu 37 7 149461881 149461881 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:149461881G>C ENST00000302017.3 - 5 2123 c.1710C>G c.(1708-1710)caC>caG p.H570Q ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGGGCCGCGTGGGCGGCTT 0.711000 11 25 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49190661 49190661 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:49190661G>A ENST00000406846.2 - 10 1418 c.1299C>T c.(1297-1299)gcC>gcT p.A433A FSHR_ENST00000304421.4_Silent_p.A407A|FSHR_ENST00000541117.1_Silent_p.A169A|FSHR_ENST00000346173.3_Silent_p.A371A NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 433 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GCCAGTCAATGGCATAGTTGT 0.473000 Gonadal Dysgenesis, 46 XX 18 79 0 0 1 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70819809 70819809 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:70819809G>C ENST00000370944.4 - 1 596 c.283C>G c.(283-285)Ctg>Gtg p.L95V ANKRD13C_ENST00000262346.6_Missense_Mutation_p.L95V NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 95 protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 GTGCCGGCCAGAAGGGCCGGG 0.672000 9 64 0 0 1 0 0 PRICKLE4 29964 broad.mit.edu 37 6 41753234 41753234 + Missense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:41753234C>T ENST00000359201.5 + 5 1127 c.538C>T c.(538-540)Cat>Tat p.H180Y PRICKLE4_ENST00000458694.1_Missense_Mutation_p.H180Y|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.H140Y|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.H140Y|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.H180Y Q2TBC4 PRIC4_HUMAN prickle homolog 4 (Drosophila) 140 LIM zinc-binding 2. nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 13 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGCGGCCGTCATCATGCAGA 0.617000 8 57 0 0 1 0 0 IGLV10-54 28772 broad.mit.edu 37 22 22569391 22569391 + RNA SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr22:22569391C>G ENST00000390287.2 + 0 96 CAGCCACCCTCGGTGTCCAAG 0.592000 4 18 0 0 1 0 0 GLIPR1L1 256710 broad.mit.edu 37 12 75763946 75763946 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:75763946G>C ENST00000312442.2 + 5 738 c.692G>C c.(691-693)aGa>aCa p.R231T CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.R240T|GLIPR1L1_ENST00000548623.1_3'UTR NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 240 extracellular region endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 CTTCTTCTGAGAATCTTTTAA 0.313000 7 55 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433570 69433570 + Missense_Mutation SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:69433570C>G ENST00000317746.2 - 1 675 c.633G>C c.(631-633)agG>agC p.R211S NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 211 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 TATTTTTTATCCTCTCCATGA 0.353000 18 276 0 0 1 0 0 RHOH 399 broad.mit.edu 37 4 40245496 40245496 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr4:40245496G>C ENST00000381799.4 + 3 1214 c.490G>C c.(490-492)Gag>Cag p.E164Q RHOH_ENST00000505618.1_Missense_Mutation_p.E164Q NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 164 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GCAGGTGTTTGAGTGCGCCGT 0.547000 11 47 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67376948 67376948 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:67376948G>C ENST00000322776.6 + 4 505 c.352G>C c.(352-354)Gac>Cac p.D118H NDUFV1_ENST00000415352.2_Missense_Mutation_p.D111H|NDUFV1_ENST00000532303.1_Missense_Mutation_p.D17H|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.D109H NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 118 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) GGTGAACGCAGACGAGGGGGA 0.652000 23 100 0 0 1 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670262 32670262 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:32670262G>C ENST00000421922.2 + 5 689 c.589G>C c.(589-591)Gag>Cag p.E197Q CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GTGTGTTCCTGAGAGGTCAGT 0.493000 15 174 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32754310 32754310 + Silent SNP C C G TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr22:32754310C>G ENST00000249007.4 + 1 457 c.252C>G c.(250-252)gtC>gtG p.V84V RFPL3_ENST00000397468.1_Silent_p.V55V|RFPL3_ENST00000382088.3_Silent_p.V55V NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 84 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GTTCCATGGTCTCTCAGAGGA 0.532000 12 100 0 0 1 0 0 TFEB 7942 broad.mit.edu 37 6 41658473 41658473 + Silent SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr6:41658473G>C ENST00000394283.1 - 3 1622 c.396C>G c.(394-396)tcC>tcG p.S132S TFEB_ENST00000373033.1_Silent_p.S132S|TFEB_ENST00000358871.2_Silent_p.S146S|TFEB_ENST00000403298.4_Silent_p.S132S|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Silent_p.S132S P19484 TFEB_HUMAN transcription factor EB 132 GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CAGCGGAGGAGGACAGCACGT 0.642000 T ALPHA renal (childhood epithelioid) 8 27 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55860975 55860975 + Missense_Mutation SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:55860975C>A ENST00000302124.2 + 1 223 c.192C>A c.(190-192)agC>agA p.S64R OR8I2_ENST00000560768.1_Missense_Mutation_p.S64R Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TTTTCCTGAGCAATTTAGCAT 0.393000 17 209 4.7546e-09 5.38221e-09 1 1 0 LRP2 4036 broad.mit.edu 37 2 170113747 170113747 + Silent SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:170113747G>A ENST00000263816.3 - 18 2811 c.2526C>T c.(2524-2526)ttC>ttT p.F842F LRP2_ENST00000443831.1_Silent_p.F705F NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 842 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCAATCAGTGAAGAATAGAT 0.418000 4 56 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000657 56000657 + Missense_Mutation SNP G G C rs113109292 by1000genomes TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr11:56000657G>C ENST00000313264.4 - 1 80 c.5C>G c.(4-6)tCg>tGg p.S2W NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TATACTGTACGACATATATTC 0.378000 5 123 0 0 1 0 0 C9orf84 158401 broad.mit.edu 37 9 114454526 114454526 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr9:114454526G>A ENST00000394779.3 - 23 3666 c.3422C>T c.(3421-3423)cCa>cTa p.P1141L C9orf84_ENST00000318737.4_Missense_Mutation_p.P1180L|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1106L|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1180L NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 1180 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGTCACAGGTGGTAAAAAACT 0.363000 12 85 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47287910 47287910 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:47287910G>A ENST00000319190.5 + 19 2523 c.2155G>A c.(2155-2157)Gag>Aag p.E719K TTC7A_ENST00000394850.2_Missense_Mutation_p.E743K|TTC7A_ENST00000263737.6_Missense_Mutation_p.E365K|TTC7A_ENST00000409245.1_Missense_Mutation_p.E685K NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 719 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TTTTGCAGCTGAGCTGTTCAT 0.587000 6 89 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52703972 52703972 + Missense_Mutation SNP G G T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:52703972G>T ENST00000287727.3 + 4 1055 c.883G>T c.(883-885)Ggc>Tgc p.G295C ZFYVE9_ENST00000361625.1_Missense_Mutation_p.G295C|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.G295C|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G295C NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 295 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 GGACCTCACTGGCAAAATCAG 0.443000 17 118 9.16793e-09 1.03367e-08 1 1 0 CNNM3 26505 broad.mit.edu 37 2 97490833 97490833 + Missense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:97490833G>A ENST00000305510.3 + 2 1292 c.1264G>A c.(1264-1266)Gag>Aag p.E422K ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron NM_017623.4 NP_060093.3 Q8NE01 CNNM3_HUMAN cyclin M3 422 CBS 2. ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 GGTGAACAACGAGGGTGAAGG 0.602000 3 32 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578500 7578500 + Nonsense_Mutation SNP G G A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr17:7578500G>A ENST00000420246.2 - 5 562 c.430C>T c.(430-432)Cag>Tag p.Q144* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 144 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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) ACCCACAGCTGCACAGGGCAG 0.597000 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) 14 47 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137391 32137391 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:32137391G>C ENST00000312561.4 + 4 3916 c.3502G>C c.(3502-3504)Gat>Cat p.D1168H KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CTCTGAGAAAGATGATATCCA 0.483000 9 101 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37660572 37660572 + Nonsense_Mutation SNP C C T TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chrX:37660572C>T ENST00000378588.4 + 8 935 c.868C>T c.(868-870)Cga>Tga p.R290* CYBB_ENST00000536160.1_Nonsense_Mutation_p.R23*|CYBB_ENST00000492288.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R258* NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 290 FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GCGGTTTTGGCGATCTCAACA 0.413000 6 259 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66603261 66603261 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr12:66603261G>C ENST00000261233.4 + 3 763 c.342G>C c.(340-342)aaG>aaC p.K114N IRAK3_ENST00000457197.2_Missense_Mutation_p.K53N NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 114 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) CTTCAGAGAAGAGTTATCAGG 0.348000 5 89 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 2 4 --- --- --- --- KLF11 8462 broad.mit.edu 37 2 10188608 10188609 + Frame_Shift_Del DEL TG TG - TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:10188608_10188609delTG ENST00000535335.1 + 3 1309_1310 c.1093_1094delTG c.(1093-1095)tfs p.C365fs KLF11_ENST00000540845.1_Frame_Shift_Del_p.C365fs|KLF11_ENST00000305883.1_Frame_Shift_Del_p.C382fs NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 382 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TAGCCAAAACTGTGTCCCTCAG 0.550 OREG0014425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 118 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89102192 89102194 + RNA DEL AAG AAG - TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr2:89102192_89102194delAAG ENST00000393525.3 + 0 2666_2668 GTTTAATAATAAGGTGATTTGTA 0.330 3 6 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149526674 149526675 + RNA DEL CT CT - TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr7:149526674_149526675delCT ENST00000378016.2 + 0 15142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ccacagtcccctcagtcccctc 0.653 5 3 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42221545 42221560 + Frame_Shift_Del DEL CCCTCACTCTACTCAG CCCTCACTCTACTCAG - rs145041033 TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01413c18-357f-4712-8f1a-27703425b1c9 a98f75ad-eb15-4f88-b3e3-e7427c58bec3 g.chr19:42221545_42221560delCCCTCACTCTACTCAG ENST00000221992.6 + 5 1244_1259 c.1130_1145delCCCTCACTCTACTCAG c.(1129-1146)atfs p.TLTLLS377fs CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.TLTLLS376fs|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.TLTLLS377fs|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 377 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GACAACAGGACCCTCACTCTACTCAGTGTCACAAGG 0.491 9 265 --- --- --- ---