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 TNFRSF4 7293 broad.mit.edu 37 1 1148396 1148396 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:1148396G>T ENST00000379236.3 - 3 350 c.346C>A c.(346-348)Ctg>Atg p.L116M TNFRSF4_ENST00000453580.1_5'UTR NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 116 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 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;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TAGCTGTCCAGGGGCTGGGTG 0.701 3 16 --- --- --- --- NADK 65220 broad.mit.edu 37 1 1685503 1685503 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:1685503C>A ENST00000344463.4 - 12 1744 c.1523G>T c.(1522-1524)gGg>gTg p.G508V NADK_ENST00000341991.3_Missense_Mutation_p.G363V|NADK_ENST00000341426.5_Missense_Mutation_p.G363V|NADK_ENST00000378625.1_Missense_Mutation_p.G508V|NADK_ENST00000342348.5_Missense_Mutation_p.G331V O95544 NADK_HUMAN NAD kinase 363 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) CAGCTCGACCCCTGCGGGGAC 0.642 6 135 --- --- --- --- ERRFI1 54206 broad.mit.edu 37 1 8074380 8074380 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:8074380G>T ENST00000469499.1 - 3 413 c.202C>A c.(202-204)Ccc>Acc p.P68T ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000377482.5_Silent_p.P93P|ERRFI1_ENST00000474874.1_Intron Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 0 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) TAAGAAGAGGGGGCAAGCTGG 0.448 8 454 --- --- --- --- TMEM201 199953 broad.mit.edu 37 1 9661280 9661280 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:9661280C>A ENST00000340305.5 + 5 733 c.724C>A c.(724-726)Cca>Aca p.P242T TMEM201_ENST00000340381.6_Missense_Mutation_p.P242T|TMEM201_ENST00000377376.4_Missense_Mutation_p.P242T NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 242 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) ACACTTCGCCCCAGGCACCAC 0.687 5 73 --- --- --- --- UBE4B 10277 broad.mit.edu 37 1 10207136 10207136 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:10207136C>A ENST00000377157.3 + 18 2905 c.1844C>A c.(1843-1845)cCc>cAc p.P615H UBE4B_ENST00000343090.6_Missense_Mutation_p.P860H|UBE4B_ENST00000253251.8_Missense_Mutation_p.P731H NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 860 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) ATCCTGGACCCCGCATATCCC 0.493 6 292 --- --- --- --- PLOD1 5351 broad.mit.edu 37 1 12024347 12024347 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:12024347G>T ENST00000196061.4 + 12 1345 c.1318G>T c.(1318-1320)Ggg>Tgg p.G440W PLOD1_ENST00000376369.3_Missense_Mutation_p.G487W NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 440 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity p.G440W(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CATTGTGCAGGGGCGGCGTGT 0.617 7 213 --- --- --- --- VPS13D 55187 broad.mit.edu 37 1 12313858 12313858 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:12313858G>T ENST00000358136.3 + 7 774 c.644G>T c.(643-645)gGg>gTg p.G215V VPS13D_ENST00000356315.4_Missense_Mutation_p.G215V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 215 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACTTTACTGGGGGATTTGCCT 0.473 7 205 --- --- --- --- PRAMEF12 390999 broad.mit.edu 37 1 12837551 12837551 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:12837551C>A ENST00000357726.4 + 3 1288 c.1261C>A c.(1261-1263)Cag>Aag p.Q421K NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 421 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTATGATGCCCAGGGTGCTCT 0.562 5 170 --- --- --- --- FBXO42 54455 broad.mit.edu 37 1 16577701 16577701 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:16577701G>T ENST00000375592.3 - 10 1834 c.1618C>A c.(1618-1620)Cca>Aca p.P540T NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 540 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ACGTGAGGTGGGGTATGCACA 0.587 5 171 --- --- --- --- NBPF1 55672 broad.mit.edu 37 1 16907919 16907919 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:16907919G>T ENST00000430580.2 - 15 2262 c.1375C>A c.(1375-1377)Ccc>Acc p.P459T NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 459 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGTTACCTGGGGGCAGATGAT 0.433 13 1160 --- --- --- --- KLHDC7A 127707 broad.mit.edu 37 1 18808274 18808274 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:18808274C>A ENST00000400664.1 + 1 851 c.799C>A c.(799-801)Cgc>Agc p.R267S NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 267 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATCCATAGCCCGCGTCCGAAT 0.592 4 167 --- --- --- --- PQLC2 54896 broad.mit.edu 37 1 19644262 19644262 + Missense_Mutation SNP C C A rs141141870 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:19644262C>A ENST00000375153.3 + 2 731 c.91C>A c.(91-93)Cag>Aag p.Q31K PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.Q31K NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 31 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGAATGTGCCCAGGACGGCTG 0.592 8 553 --- --- --- --- KDM1A 23028 broad.mit.edu 37 1 23408760 23408760 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:23408760G>T ENST00000400181.4 + 20 2450 c.2346G>T c.(2344-2346)cgG>cgT p.R782R KDM1A_ENST00000356634.3_Silent_p.R758R|KDM1A_ENST00000542151.1_Silent_p.R782R|RP1-184J9.2_ENST00000427154.1_RNA NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 758 Demethylase activity. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CCTGGGCTCGGGGCTCTTATT 0.498 5 100 --- --- --- --- HNRNPR 10236 broad.mit.edu 37 1 23650124 23650124 + Silent SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:23650124T>C ENST00000478691.1 - 5 568 c.297A>G c.(295-297)ccA>ccG p.P99P HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 200 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.P200P(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GACCGGACAGTGGATCCATCA 0.443 10 197 --- --- --- --- HMGCL 3155 broad.mit.edu 37 1 24129055 24129055 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:24129055C>A ENST00000374483.4 - 10 1473 c.e10-1 HMGCL_ENST00000374490.3_Splice_Site|HMGCL_ENST00000436439.2_Splice_Site P35914 HMGCL_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) GATTCACACCCTTTGAGAAAC 0.448 4 96 --- --- --- --- UBXN11 91544 broad.mit.edu 37 1 26609170 26609170 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:26609170C>A ENST00000314675.7 - 10 981 c.902G>T c.(901-903)gGg>gTg p.G301V UBXN11_ENST00000374223.1_Missense_Mutation_p.G178V|UBXN11_ENST00000374222.1_Missense_Mutation_p.G421V|UBXN11_ENST00000374217.2_Missense_Mutation_p.G388V|UBXN11_ENST00000357089.4_Missense_Mutation_p.G388V|UBXN11_ENST00000374221.3_Missense_Mutation_p.G421V NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 421 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 TCGCACGTCCCCAATGGTGTT 0.642 5 129 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27058085 27058085 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:27058085C>A ENST00000324856.7 + 3 2164 c.1793C>A c.(1792-1794)cCt>cAt p.P598H ARID1A_ENST00000374152.2_Missense_Mutation_p.P215H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P598H NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 598 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGCGCTTCCCTCCACCGCAG 0.587 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 6 154 --- --- --- --- SLC9A1 6548 broad.mit.edu 37 1 27427032 27427032 + Missense_Mutation SNP C C A rs138292060 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:27427032C>A ENST00000263980.3 - 12 2789 c.2214G>T c.(2212-2214)aaG>aaT p.K738N SLC9A1_ENST00000545949.1_Missense_Mutation_p.K399N NM_003047.4 NP_003038.2 P19634 SL9A1_HUMAN solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1 738 regulation of pH integral to membrane sodium:hydrogen antiporter activity central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) AGACTTTGCCCTTCAGCTCTT 0.602 7 462 --- --- --- --- PTAFR 5724 broad.mit.edu 37 1 28476664 28476664 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:28476664G>T ENST00000373857.3 - 2 1503 c.869C>A c.(868-870)cCt>cAt p.P290H PTAFR_ENST00000539896.1_Missense_Mutation_p.P290H|PTAFR_ENST00000305392.3_Missense_Mutation_p.P290H NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 290 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GTAGATAACAGGGTCTAAGAC 0.532 4 101 --- --- --- --- CSMD2 114784 broad.mit.edu 37 1 34286096 34286096 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:34286096C>A ENST00000373381.4 - 8 1349 c.1173G>T c.(1171-1173)agG>agT p.R391S NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 351 Sushi 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCTTTTGCCCCTTTCGGGTA 0.463 7 421 --- --- --- --- TEKT2 27285 broad.mit.edu 37 1 36552430 36552430 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:36552430C>A ENST00000207457.3 + 5 741 c.614C>A c.(613-615)cCc>cAc p.P205H NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 205 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAGGTTGACCCCACACGTGTA 0.552 5 113 --- --- --- --- MANEAL 149175 broad.mit.edu 37 1 38265330 38265330 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:38265330C>A ENST00000373045.6 + 4 1210 c.829C>A c.(829-831)Cct>Act p.P277T MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Missense_Mutation_p.P55T|MANEAL_ENST00000525897.1_Missense_Mutation_p.P83T NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 277 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCTGACGTCCCCTGAGGCCTG 0.572 7 241 --- --- --- --- INPP5B 3633 broad.mit.edu 37 1 38357094 38357094 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:38357094C>A ENST00000373023.2 - 8 898 c.805G>T c.(805-807)Ggg>Tgg p.G269W INPP5B_ENST00000373027.1_Missense_Mutation_p.G25W|INPP5B_ENST00000373026.1_Missense_Mutation_p.G269W|INPP5B_ENST00000373024.3_Missense_Mutation_p.G189W NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 269 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACTCCCTTCCCATTTGGTCTC 0.448 7 293 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39768669 39768669 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:39768669C>A ENST00000564288.1 + 23 3485 c.2708C>A c.(2707-2709)cCc>cAc p.P903H MACF1_ENST00000539005.1_Missense_Mutation_p.P908H|MACF1_ENST00000317713.7_Missense_Mutation_p.P908H|MACF1_ENST00000545844.1_Missense_Mutation_p.P908H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.P908H|MACF1_ENST00000567887.1_Missense_Mutation_p.P940H|MACF1_ENST00000372915.3_Missense_Mutation_p.P908H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 908 SH3. 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) GTGATCAGCCCCACAGGGAAC 0.473 5 86 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39910390 39910390 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:39910390G>T ENST00000564288.1 + 80 20265 c.19488G>T c.(19486-19488)aaG>aaT p.K6496N MACF1_ENST00000539005.1_Missense_Mutation_p.K4307N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4437N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4437N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4437N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6533N|MACF1_ENST00000372915.3_Missense_Mutation_p.K6395N|MACF1_ENST00000289893.4_Missense_Mutation_p.K4939N Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6505 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) TACTTGACAAGGGCAGACTCA 0.458 5 112 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39927561 39927561 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:39927561C>A ENST00000564288.1 + 93 22307 c.21530C>A c.(21529-21531)cCc>cAc p.P7177H MACF1_ENST00000539005.1_Missense_Mutation_p.P4988H|MACF1_ENST00000317713.7_Missense_Mutation_p.P5118H|MACF1_ENST00000545844.1_Missense_Mutation_p.P5118H|MACF1_ENST00000361689.2_Missense_Mutation_p.P5118H|MACF1_ENST00000567887.1_Missense_Mutation_p.P7214H|MACF1_ENST00000372915.3_Missense_Mutation_p.P7076H|MACF1_ENST00000289893.4_Missense_Mutation_p.P5620H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7076 C-terminal tail (By similarity).|GAR. 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) CCAGAGTTCCCCACCACCAAG 0.378 6 387 --- --- --- --- RLF 6018 broad.mit.edu 37 1 40688302 40688302 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:40688302G>T ENST00000372771.4 + 6 894 c.867G>T c.(865-867)gaG>gaT p.E289D NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 289 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TGGAATCTGAGGGGCAGGATA 0.373 6 251 --- --- --- --- ZFP69B 65243 broad.mit.edu 37 1 40928275 40928275 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:40928275G>T ENST00000411995.2 + 6 994 c.619G>T c.(619-621)Ggg>Tgg p.G207W ZFP69B_ENST00000361584.3_Missense_Mutation_p.G105W|ZFP69B_ENST00000484445.1_3'UTR NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B AATGGGTAAGGGGCAAATCCC 0.403 6 310 --- --- --- --- HIVEP3 59269 broad.mit.edu 37 1 42050098 42050098 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:42050098G>T ENST00000372584.1 - 3 1385 c.371C>A c.(370-372)cCc>cAc p.P124H HIVEP3_ENST00000429157.2_Missense_Mutation_p.P124H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P124H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P124H NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 124 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGTCTCATGGGGTCAACCAG 0.607 6 241 --- --- --- --- ST3GAL3 6487 broad.mit.edu 37 1 44386558 44386558 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:44386558C>A ENST00000262915.3 + 12 1380 c.1203C>A c.(1201-1203)ccC>ccA p.P401P ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361400.4_Silent_p.P316P|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.P401P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P302P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P301P|ST3GAL3_ENST00000372374.2_Silent_p.P301P|ST3GAL3_ENST00000372372.2_Silent_p.P370P|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Silent_p.P332P|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.P370P|ST3GAL3_ENST00000347631.2_Silent_p.P347P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.P386P|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.P386P NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 332 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) CCAACGCACCCCTGCACTACT 0.587 4 43 --- --- --- --- CYP4X1 260293 broad.mit.edu 37 1 47515758 47515758 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:47515758C>A ENST00000371901.3 + 12 1692 c.1442C>A c.(1441-1443)cCc>cAc p.P481H CYP4X1_ENST00000538609.1_Missense_Mutation_p.P480H NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 481 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 ACTCCAGACCCCACCAGGCCT 0.468 7 284 --- --- --- --- STIL 6491 broad.mit.edu 37 1 47746590 47746590 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:47746590C>A ENST00000360380.3 - 13 1903 c.1540G>T c.(1540-1542)Ggg>Tgg p.G514W STIL_ENST00000243182.6_Missense_Mutation_p.G514W|STIL_ENST00000396221.2_Missense_Mutation_p.G514W|STIL_ENST00000337817.5_Missense_Mutation_p.G514W|STIL_ENST00000371877.3_Missense_Mutation_p.G514W NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 514 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TGGGGGTTCCCTTTCTTATAG 0.418 9 222 --- --- --- --- USP1 7398 broad.mit.edu 37 1 62910475 62910475 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:62910475G>T ENST00000339950.4 + 6 1439 c.624G>T c.(622-624)ttG>ttT p.L208F USP1_ENST00000371146.1_Missense_Mutation_p.L208F NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 208 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AATGTATTTTGGGAAACATTC 0.338 5 235 --- --- --- --- IL12RB2 3595 broad.mit.edu 37 1 67861329 67861329 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:67861329C>A ENST00000262345.1 + 16 2786 c.2146C>A c.(2146-2148)Cca>Aca p.P716T IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P630T NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 716 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TCAAGTGACCCCAGTTTTCAG 0.537 5 106 --- --- --- --- RPE65 6121 broad.mit.edu 37 1 68906685 68906685 + Splice_Site SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:68906685T>C ENST00000262340.5 - 6 549 c.e6-2 NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity p.?(1) central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 AAGATCAACCTACGGAAGTAA 0.428 4 79 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77510218 77510218 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:77510218C>A ENST00000477717.1 + 3 826 c.591C>A c.(589-591)ccC>ccA p.P197P NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 197 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGGTGCTGCCCCGGCTGAAGG 0.577 6 235 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91405265 91405265 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:91405265C>A ENST00000370440.1 - 3 1863 c.1646G>T c.(1645-1647)gGg>gTg p.G549V ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TACCACTGCCCCATGTGCAAT 0.393 7 258 --- --- --- --- ABCA4 24 broad.mit.edu 37 1 94517240 94517240 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:94517240G>T ENST00000370225.3 - 17 2688 c.2602C>A c.(2602-2604)Cca>Aca p.P868T ABCA4_ENST00000535735.1_Missense_Mutation_p.P794T NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 868 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAAGGAAGTGGGGTTCCATAG 0.398 5 100 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103462681 103462681 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:103462681C>A ENST00000358392.2 - 26 2550 c.e26-1 COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGGATGACCCTATATTTAGC 0.318 8 529 --- --- --- --- AMY2B 280 broad.mit.edu 37 1 104117851 104117851 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:104117851G>T ENST00000361355.4 + 8 1501 c.885G>T c.(883-885)tgG>tgT p.W295C AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 295 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) ATAGGAACTGGGGAGAAGGTT 0.418 15 1340 --- --- --- --- VAV3 10451 broad.mit.edu 37 1 108185310 108185310 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:108185310G>T ENST00000370056.4 - 20 2119 c.1845C>A c.(1843-1845)ccC>ccA p.P615P VAV3_ENST00000527011.1_Silent_p.P615P|VAV3_ENST00000415432.2_Silent_p.P55P|VAV3_ENST00000544443.1_Silent_p.P19P|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 615 SH3 1. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) GCTGTAAAGGGGGTCCTTCAT 0.478 6 203 --- --- --- --- CSF1 1435 broad.mit.edu 37 1 110466551 110466551 + Silent SNP C C A rs151241389 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:110466551C>A ENST00000329608.6 + 6 1699 c.1308C>A c.(1306-1308)ccC>ccA p.P436P CSF1_ENST00000369802.3_Silent_p.P436P|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 436 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) GCGTGCTGCCCCTTGGGGAGC 0.682 5 132 --- --- --- --- AHCYL1 10768 broad.mit.edu 37 1 110562206 110562206 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:110562206G>T ENST00000369799.5 + 15 1790 c.1423G>T c.(1423-1425)Ggg>Tgg p.G475W AHCYL1_ENST00000359172.3_Missense_Mutation_p.G428W|AHCYL1_ENST00000393614.4_Missense_Mutation_p.G428W NM_001242673.1|NM_001242674.1|NM_006621.5 NP_001229602.1|NP_001229603.1|NP_006612.2 O43865 SAHH2_HUMAN adenosylhomocysteinase-like 1 475 one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2) 18 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) TGCACCCGAGGGGCGATACAA 0.408 7 267 --- --- --- --- SLC16A4 9122 broad.mit.edu 37 1 110925493 110925493 + Missense_Mutation SNP C C G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:110925493C>G ENST00000369779.4 - 3 432 c.183G>C c.(181-183)tgG>tgC p.W61C SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 61 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.W61C(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) TGGATCCAATCCAACCAATTT 0.408 62 156 --- --- --- --- CEPT1 10390 broad.mit.edu 37 1 111703854 111703854 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:111703854G>T ENST00000545121.1 + 4 773 c.565G>T c.(565-567)Ggg>Tgg p.G189W CEPT1_ENST00000357172.4_Missense_Mutation_p.G189W NM_001007794.1 NP_001007795.1 Q9Y6K0 CEPT1_HUMAN choline/ethanolamine phosphotransferase 1 189 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) TTGTTTTGCGGGGACATTTAT 0.383 9 575 --- --- --- --- DCLRE1B 64858 broad.mit.edu 37 1 114454708 114454708 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:114454708G>T ENST00000369563.3 + 4 1940 c.1494G>T c.(1492-1494)agG>agT p.R498S DCLRE1B_ENST00000466480.1_Intron NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 498 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGAATTCAGGGGTCTAGCAC 0.507 Other identified genes with known or suspected DNA repair function 6 245 --- --- --- --- AMPD1 270 broad.mit.edu 37 1 115222228 115222228 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:115222228G>T ENST00000369538.3 - 6 1003 c.956C>A c.(955-957)cCc>cAc p.P319H AMPD1_ENST00000520113.2_Missense_Mutation_p.P323H|AMPD1_ENST00000353928.6_Missense_Mutation_p.P290H NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 290 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) ATCTCGGTGGGGGTTGTTTTT 0.433 7 303 --- --- --- --- VANGL1 81839 broad.mit.edu 37 1 116202355 116202355 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:116202355C>A ENST00000355485.2 + 3 436 c.165C>A c.(163-165)ccC>ccA p.P55P VANGL1_ENST00000369510.4_Silent_p.P55P|VANGL1_ENST00000310260.3_Silent_p.P55P|VANGL1_ENST00000369509.1_Silent_p.P55P NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 55 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CTGGAGAGCCCCTGTTGGGAA 0.488 6 190 --- --- --- --- ATP1A1 476 broad.mit.edu 37 1 116931321 116931321 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:116931321G>T ENST00000537345.1 + 6 926 c.563G>T c.(562-564)gGg>gTg p.G188V ATP1A1_ENST00000369496.4_Missense_Mutation_p.G157V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.G188V NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 188 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GTTGTGGTTGGGGATCTGGTG 0.418 7 271 --- --- --- --- ATP1A1 476 broad.mit.edu 37 1 116932153 116932153 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:116932153C>A ENST00000537345.1 + 8 1210 c.847C>A c.(847-849)Ccc>Acc p.P283T ATP1A1_ENST00000369496.4_Missense_Mutation_p.P252T|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Missense_Mutation_p.P283T NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 283 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) AGGCCAGACCCCCATTGCTGC 0.493 7 227 --- --- --- --- PTGFRN 5738 broad.mit.edu 37 1 117516926 117516926 + Missense_Mutation SNP G G T rs142086076 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:117516926G>T ENST00000393203.2 + 7 2295 c.2148G>T c.(2146-2148)gaG>gaT p.E716D PTGFRN_ENST00000496699.1_3'UTR NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 716 Ig-like C2-type 6. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TCACTGTCGAGGGAGCAGCAC 0.438 6 240 --- --- --- --- PTGFRN 5738 broad.mit.edu 37 1 117529548 117529548 + Missense_Mutation SNP C C T rs140355100 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:117529548C>T ENST00000393203.2 + 9 2746 c.2599C>T c.(2599-2601)Cgg>Tgg p.R867W NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 867 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding p.R867W(1) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TCAGGAGACACGGCGCGAGCG 0.617 56 108 --- --- --- --- MAN1A2 10905 broad.mit.edu 37 1 117944807 117944807 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:117944807G>T ENST00000356554.3 + 2 1037 c.e2-1 MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TTTTCTCACAGGGAAGAGGAA 0.353 4 159 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144882782 144882782 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:144882782C>A ENST00000369359.4 - 27 3686 c.3648G>T c.(3646-3648)aaG>aaT p.K1216N PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1079N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1145N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1079N Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1079 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCACCTCGCCCTTCTCCTTGT 0.517 T PDGFRB MPD 10 792 --- --- --- --- POLR3C 10623 broad.mit.edu 37 1 145601557 145601557 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:145601557G>T ENST00000334163.3 - 7 1009 c.849C>A c.(847-849)ccC>ccA p.P283P POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.P283P NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 283 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GCTGGGTGAAGGGAGCACTAG 0.418 5 118 --- --- --- --- TCHHL1 126637 broad.mit.edu 37 1 152057837 152057837 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152057837G>T ENST00000368806.1 - 3 2385 c.2321C>A c.(2320-2322)cCc>cAc p.P774H NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 774 calcium ion binding p.P774H(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACTTGACCAGGGGACTGAAGA 0.502 8 316 --- --- --- --- TCHHL1 126637 broad.mit.edu 37 1 152057905 152057905 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152057905G>T ENST00000368806.1 - 3 2317 c.2253C>A c.(2251-2253)ccC>ccA p.P751P NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 751 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CCAGCTCTTGGGGACTTTCAT 0.453 10 399 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127798 152127798 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152127798C>A ENST00000316073.3 - 3 1841 c.1777G>T c.(1777-1779)Ggg>Tgg p.G593W NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 593 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTATTTTGCCCTTGTATTTCC 0.458 9 560 --- --- --- --- HRNR 388697 broad.mit.edu 37 1 152188056 152188056 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152188056C>A ENST00000368801.2 - 3 6124 c.6049G>T c.(6049-6051)Ggg>Tgg p.G2017W FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2017 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGCCCATGGGTAGAG 0.562 17 1601 --- --- --- --- HRNR 388697 broad.mit.edu 37 1 152195662 152195662 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152195662C>A ENST00000368801.2 - 2 143 c.68G>T c.(67-69)gGg>gTg p.G23V FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 23 EF-hand 1.|S-100-like. keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCATACTCCCCATGCTGGGT 0.418 7 241 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152276103 152276103 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152276103C>A ENST00000368799.1 - 3 11294 c.11259G>T c.(11257-11259)gaG>gaT p.E3753D FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3753 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.E3753D(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGACCCTCTTGGGACG 0.617 Ichthyosis 9 710 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152277601 152277601 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152277601G>T ENST00000368799.1 - 3 9796 c.9761C>A c.(9760-9762)cCc>cAc p.P3254H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3254 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.P3254H(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGACCTGGGGTGTCTGGA 0.582 Ichthyosis 9 589 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152280128 152280128 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152280128C>A ENST00000368799.1 - 3 7269 c.7234G>T c.(7234-7236)Ggg>Tgg p.G2412W FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2412 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGGAAAGACCCTGAACGTCCA 0.602 Ichthyosis 6 332 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152284559 152284559 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152284559C>A ENST00000368799.1 - 3 2838 c.2803G>T c.(2803-2805)Ggg>Tgg p.G935W FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 935 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G935W(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCTGGACCCCTCTGATTGT 0.572 Ichthyosis 9 580 --- --- --- --- LCE2A 353139 broad.mit.edu 37 1 152671631 152671631 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152671631C>A ENST00000368779.1 + 2 305 c.254C>A c.(253-255)cCc>cAc p.P85H NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 85 Cys-rich. keratinization breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CACCAGAGCCCCGATTGTTGT 0.652 5 91 --- --- --- --- LCE1C 353133 broad.mit.edu 37 1 152777624 152777624 + Missense_Mutation SNP C C T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152777624C>T ENST00000368768.1 - 2 381 c.331G>A c.(331-333)Ggc>Agc p.G111S LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 111 Gly-rich. keratinization p.G111S(1) NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GAGTGCTGGCCACTCCCCCCG 0.657 14 39 --- --- --- --- LCE1A 353131 broad.mit.edu 37 1 152800255 152800255 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:152800255G>A ENST00000335123.2 + 1 307 c.307G>A c.(307-309)Ggc>Agc p.G103S NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 103 Cys-rich. keratinization p.G103S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGGGACAGCGGCCAGCACTC 0.622 4 14 --- --- --- --- NUP210L 91181 broad.mit.edu 37 1 153998193 153998193 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:153998193C>A ENST00000368559.3 - 30 4019 c.e30-1 NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGCTCCTTCCCTAGGGAACAA 0.473 7 333 --- --- --- --- C1orf189 388701 broad.mit.edu 37 1 154173005 154173005 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:154173005G>T ENST00000368525.3 - 3 159 c.134C>A c.(133-135)cCg>cAg p.P45Q NM_001010979.1 NP_001010979.1 Q5VU69 CA189_HUMAN chromosome 1 open reading frame 189 45 kidney(1)|large_intestine(3)|lung(1)|skin(2) 7 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) GGTGGCATACGGGTTTCTTCT 0.517 9 468 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155385613 155385613 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:155385613C>A ENST00000368346.3 - 6 6569 c.5930G>T c.(5929-5931)aGg>aTg p.R1977M ASH1L_ENST00000392403.3_Missense_Mutation_p.R1977M Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1977 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTTCTTTTCCCTTGGGATGAG 0.453 7 342 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155883915 155883915 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:155883915G>T ENST00000368321.3 - 14 1865 c.1842C>A c.(1840-1842)ccC>ccA p.P614P KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 614 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CTGTTTCCTAGGGAGCCATCC 0.443 6 173 --- --- --- --- PMF1 11243 broad.mit.edu 37 1 156203446 156203446 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:156203446G>T ENST00000368277.3 + 3 304 c.295G>T c.(295-297)Ggg>Tgg p.G99W PMF1_ENST00000567140.1_Missense_Mutation_p.G99W|PMF1_ENST00000565805.1_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99W|PMF1_ENST00000368273.4_Missense_Mutation_p.G101W|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99W|PMF1_ENST00000368279.3_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99W NM_007221.3 NP_009152.2 polyamine-modulated factor 1 p.G99R(1) kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) CAAAGAGGAGGGGAACCTAGA 0.478 6 310 --- --- --- --- TMEM79 84283 broad.mit.edu 37 1 156255745 156255745 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:156255745G>T ENST00000405535.2 + 2 899 c.728G>T c.(727-729)gGg>gTg p.G243V TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.G243V|TMEM79_ENST00000495881.1_3'UTR NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 243 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) CTGCGCTGCGGGGTCTTTGCC 0.607 6 227 --- --- --- --- HAPLN2 60484 broad.mit.edu 37 1 156593630 156593630 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:156593630C>A ENST00000255039.1 + 4 524 c.117C>A c.(115-117)ccC>ccA p.P39P NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 39 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACCTCCTGCCCCCCATCCACG 0.682 3 14 --- --- --- --- RRNAD1 51093 broad.mit.edu 37 1 156702827 156702827 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:156702827G>T ENST00000368216.4 + 4 1110 c.480G>T c.(478-480)gtG>gtT p.V160V RRNAD1_ENST00000368218.4_Silent_p.V160V|RRNAD1_ENST00000476229.1_Intron NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 160 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 TTGTAGACGTGGGCTCAGGCC 0.517 5 165 --- --- --- --- FCRL5 83416 broad.mit.edu 37 1 157494290 157494290 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:157494290C>A ENST00000361835.3 - 10 2175 c.2018G>T c.(2017-2019)gGg>gTg p.G673V FCRL5_ENST00000368191.3_Missense_Mutation_p.G588V|FCRL5_ENST00000356953.4_Missense_Mutation_p.G673V|FCRL5_ENST00000368190.3_Missense_Mutation_p.G673V NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 673 Ig-like C2-type 7. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAGCAGGTCCCCCACCACAGC 0.552 4 78 --- --- --- --- AIM2 9447 broad.mit.edu 37 1 159043120 159043120 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:159043120C>A ENST00000368130.4 - 2 458 c.170G>T c.(169-171)gGg>gTg p.G57V AIM2_ENST00000411768.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 57 DAPIN. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) AGACACCGCCCCAGCATTTTG 0.393 6 154 --- --- --- --- DARC 2532 broad.mit.edu 37 1 159176132 159176132 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:159176132C>A ENST00000537147.1 + 3 1746 c.903C>A c.(901-903)ccC>ccA p.P301P DARC_ENST00000368122.2_Silent_p.P301P|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.P303P Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 301 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TGGCTACGCCCCTGCTCCTCG 0.602 8 465 --- --- --- --- FCRL6 343413 broad.mit.edu 37 1 159785241 159785241 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:159785241G>T ENST00000321935.6 + 10 1278 c.1192G>T c.(1192-1194)Ggg>Tgg p.G398W FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000392235.3_Missense_Mutation_p.G296W|FCRL6_ENST00000368106.3_Missense_Mutation_p.G391W NM_001284217.1 NP_001271146.1 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 391 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GTTCACCGTGGGGAGAAAGGT 0.542 4 87 --- --- --- --- TAGLN2 8407 broad.mit.edu 37 1 159889590 159889590 + Missense_Mutation SNP C C A rs150286561 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:159889590C>A ENST00000368097.4 - 3 526 c.216G>T c.(214-216)gaG>gaT p.E72D TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E93D|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E72D NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 72 CH. muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGCCTGCCCCTCGGGGTACA 0.552 7 355 --- --- --- --- COPA 1314 broad.mit.edu 37 1 160260403 160260403 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:160260403G>T ENST00000241704.7 - 32 3723 c.3494C>A c.(3493-3495)cCc>cAc p.P1165H COPA_ENST00000368069.3_Missense_Mutation_p.P1174H NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1165 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AATGTCAAAGGGGTTGTGCAT 0.493 8 285 --- --- --- --- COPA 1314 broad.mit.edu 37 1 160267460 160267460 + Missense_Mutation SNP C C A rs112109460 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:160267460C>A ENST00000241704.7 - 20 2282 c.2053G>T c.(2053-2055)Ggg>Tgg p.G685W COPA_ENST00000368069.3_Missense_Mutation_p.G694W NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 685 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGTGGTTCCCCTGCAGCAGG 0.468 6 210 --- --- --- --- CD48 962 broad.mit.edu 37 1 160651144 160651144 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:160651144C>A ENST00000368046.3 - 3 587 c.500G>T c.(499-501)gGg>gTg p.G167V RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA NM_001778.3 NP_001769.2 P09326 CD48_HUMAN CD48 molecule 167 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCTTTTGTCCCCATACCAGGT 0.443 7 360 --- --- --- --- APOA2 336 broad.mit.edu 37 1 161192276 161192276 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:161192276G>T ENST00000594609.1 + 2 211 c.211G>T c.(211-213)Ggg>Tgg p.G71W APOA2_ENST00000470459.2_Intron|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000463812.1_Silent_p.P26P TCTTGATCAGGGGTGTCAGCT 0.507 9 421 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165175156 165175156 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:165175156G>T ENST00000342310.3 - 8 1315 c.933C>A c.(931-933)ccC>ccA p.P311P LMX1A_ENST00000367893.4_Silent_p.P311P|LMX1A_ENST00000294816.2_Silent_p.P311P|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 311 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CCTGTCGGAAGGGATCTGAGC 0.592 5 154 --- --- --- --- FAM78B 149297 broad.mit.edu 37 1 166039992 166039992 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:166039992C>A ENST00000338353.3 - 3 861 c.272G>T c.(271-273)tGg>tTg p.W91L FAM78B_ENST00000354422.3_Missense_Mutation_p.W91L Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 91 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) AGGCAGTTCCCAGCTTGACCT 0.483 4 82 --- --- --- --- ILDR2 387597 broad.mit.edu 37 1 166927175 166927175 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:166927175C>A ENST00000271417.3 - 2 265 c.210G>T c.(208-210)ttG>ttT p.L70F ILDR2_ENST00000528703.1_Missense_Mutation_p.L70F|ILDR2_ENST00000526687.1_Missense_Mutation_p.L70F|ILDR2_ENST00000525740.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529387.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529071.1_Missense_Mutation_p.L70F|ILDR2_ENST00000469934.2_Missense_Mutation_p.L70F NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 70 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 AGGACATGCCCAAGGATTCTC 0.542 6 232 --- --- --- --- SELE 6401 broad.mit.edu 37 1 169696959 169696959 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:169696959C>A ENST00000333360.7 - 9 1528 c.1389G>T c.(1387-1389)gaG>gaT p.E463D SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E338D|SELE_ENST00000367776.1_Missense_Mutation_p.E400D|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.E338D|SELE_ENST00000367781.4_Missense_Mutation_p.E400D|SELE_ENST00000367777.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 463 Sushi 5. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) ATTCAAATCCCTCCTCACAGC 0.498 6 251 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 176984012 176984012 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:176984012C>A ENST00000367654.3 - 8 1674 c.e8-1 ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGGCATTCCCCTTAGAAGCAG 0.423 7 516 --- --- --- --- XPR1 9213 broad.mit.edu 37 1 180794397 180794397 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:180794397C>A ENST00000367590.4 + 9 1249 c.1051C>A c.(1051-1053)Ctt>Att p.L351I XPR1_ENST00000367589.3_Missense_Mutation_p.L351I NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 351 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TCCACTTGCCCTTTATGGATT 0.438 8 476 --- --- --- --- LAMC2 3918 broad.mit.edu 37 1 183177169 183177169 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:183177169G>T ENST00000264144.4 + 2 298 c.233G>T c.(232-234)aGg>aTg p.R78M LAMC2_ENST00000493293.1_Missense_Mutation_p.R78M NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 78 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CACAGAGAAAGGGACCGCTGT 0.507 10 509 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183514075 183514075 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:183514075C>A ENST00000367537.3 + 17 2142 c.1947C>A c.(1945-1947)ccC>ccA p.P649P SMG7_ENST00000347615.2_Silent_p.P666P|SMG7_ENST00000515829.2_Silent_p.P620P|SMG7_ENST00000508461.1_Silent_p.P624P|SMG7_ENST00000456731.2_Silent_p.P578P|SMG7_ENST00000507469.1_Silent_p.P620P Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 666 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GGTTTCCGCCCCCAACATATG 0.438 6 262 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183617132 183617132 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:183617132G>T ENST00000308641.4 - 2 1056 c.785C>A c.(784-786)cCc>cAc p.P262H RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 262 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 ATTGTTTAAGGGGTAGCTCTC 0.448 6 279 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186280621 186280621 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:186280621C>A ENST00000445192.2 + 10 3731 c.3686C>A c.(3685-3687)cCc>cAc p.P1229H PRG4_ENST00000367485.4_Missense_Mutation_p.P1136H|PRG4_ENST00000367486.3_Missense_Mutation_p.P1186H|PRG4_ENST00000367484.3_Missense_Mutation_p.P758H|PRG4_ENST00000367483.4_Missense_Mutation_p.P1188H NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1229 Hemopexin-like 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCAGGGTACCCCAAACCAATT 0.353 6 333 --- --- --- --- TPR 7175 broad.mit.edu 37 1 186289546 186289546 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:186289546G>A ENST00000367478.4 - 46 6762 c.6466C>T c.(6466-6468)Ccg>Tcg p.P2156S NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.P2156S(2)|p.P2143S(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCAACCTGCGGCGAACTAAAT 0.398 T NTRK1 papillary thyroid 14 63 --- --- --- --- CRB1 23418 broad.mit.edu 37 1 197404276 197404276 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:197404276G>T ENST00000367397.1 + 5 2284 c.1426G>T c.(1426-1428)Ggg>Tgg p.G476W CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G576W|CRB1_ENST00000367400.3_Missense_Mutation_p.G1095W|CRB1_ENST00000367399.2_Missense_Mutation_p.G983W|CRB1_ENST00000535699.1_Missense_Mutation_p.G1071W P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1095 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GGGCCTGCAAGGGTGTCTAAG 0.368 6 213 --- --- --- --- KIF14 9928 broad.mit.edu 37 1 200587192 200587192 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:200587192G>T ENST00000367350.4 - 2 1098 c.660C>A c.(658-660)ccC>ccA p.P220P NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 220 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 GGGAAGCAATGGGTGGTCTAT 0.398 9 505 --- --- --- --- C1orf106 55765 broad.mit.edu 37 1 200880632 200880632 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:200880632C>A ENST00000367342.4 + 9 1466 c.1266C>A c.(1264-1266)ccC>ccA p.P422P C1orf106_ENST00000413687.2_Silent_p.P337P NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 422 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GCGCCTTTCCCCGCCGCCGCC 0.662 6 239 --- --- --- --- GPR37L1 9283 broad.mit.edu 37 1 202096908 202096908 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:202096908C>A ENST00000367282.5 + 2 776 c.670C>A c.(670-672)Ctg>Atg p.L224M NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CCTCTGTGCCCTGGGCATTGA 0.587 4 102 --- --- --- --- PPP1R15B 84919 broad.mit.edu 37 1 204380335 204380335 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:204380335G>T ENST00000367188.4 - 1 584 c.205C>A c.(205-207)Cag>Aag p.Q69K RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 69 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) GCAAGGAGCTGGGAGAGCAGT 0.572 5 192 --- --- --- --- CD46 4179 broad.mit.edu 37 1 207959026 207959026 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:207959026G>T ENST00000358170.2 + 12 1282 c.1126G>T c.(1126-1128)Ggc>Tgc p.G376C CD46_ENST00000367042.1_Splice_Site_p.G361C|CD46_ENST00000360212.2_Splice_Site_p.G332W|CD46_ENST00000480003.1_Splice_Site_p.G347W|CD46_ENST00000367047.1_Splice_Site_p.G313W|CD46_ENST00000367041.1_Splice_Site_p.G346C|CD46_ENST00000322918.5_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Splice_Site_p.G361W|CD46_ENST00000361067.1_Splice_Site_p.G362W|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Splice_Site_p.G376W|CD46_ENST00000357714.1_Splice_Site_p.G346W NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 376 complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 GAAGAAGAAAGGGTAAATTAA 0.338 6 360 --- --- --- --- GPATCH2 55105 broad.mit.edu 37 1 217604600 217604600 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:217604600C>A ENST00000366935.3 - 10 1584 c.1474G>T c.(1474-1476)Ggg>Tgg p.G492W NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 492 G-patch. intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TCAGAGATCCCCTTGCCATCT 0.493 7 349 --- --- --- --- BPNT1 10380 broad.mit.edu 37 1 220247316 220247316 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:220247316C>A ENST00000469520.2 - 4 667 c.218G>T c.(217-219)gGg>gTg p.G73V BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Missense_Mutation_p.G73V|BPNT1_ENST00000354807.3_Missense_Mutation_p.G73V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G18V|BPNT1_ENST00000414869.2_Missense_Mutation_p.G73V O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 73 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) TACCTCTTCCCCTATAATTGT 0.388 9 384 --- --- --- --- LBR 3930 broad.mit.edu 37 1 225607004 225607004 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:225607004G>T ENST00000338179.2 - 5 726 c.601C>A c.(601-603)Ccc>Acc p.P201T LBR_ENST00000272163.4_Missense_Mutation_p.P201T|LBR_ENST00000487054.1_5'UTR NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 201 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GCCCGGATGGGGGTCACTTCA 0.498 6 169 --- --- --- --- TRIM11 81559 broad.mit.edu 37 1 228582614 228582614 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:228582614G>T ENST00000493030.2 - 5 4533 c.824C>A c.(823-825)cCa>cAa p.P275Q TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Missense_Mutation_p.P400Q Q96F44 TRI11_HUMAN tripartite motif containing 11 400 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GCGCCTGGGTGGGTCCCGGAG 0.597 4 83 --- --- --- --- CAPN9 10753 broad.mit.edu 37 1 230933908 230933908 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:230933908G>T ENST00000354537.1 + 18 1992 c.1910G>T c.(1909-1911)cGg>cTg p.R637L CAPN9_ENST00000271971.2_Splice_Site_p.R663L|CAPN9_ENST00000366666.2_Splice_Site_p.R600L|CAPN9_ENST00000480004.1_Intron NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 663 Domain IV. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.R663L(1)|p.R637L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CTCCTATCAGGGGTGTTCCAG 0.502 OREG0014318 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 411 --- --- --- --- KIAA1804 84451 broad.mit.edu 37 1 233489601 233489601 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:233489601G>T ENST00000366624.3 + 3 1296 c.1035G>T c.(1033-1035)cgG>cgT p.R345R MLK4_ENST00000366623.3_Silent_p.R345R NM_032435.2 NP_115811.2 TCCCCTATCGGGGCATTGATG 0.512 7 164 --- --- --- --- LYST 1130 broad.mit.edu 37 1 235950607 235950607 + Silent SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:235950607A>G ENST00000389794.3 - 14 4929 c.4755T>C c.(4753-4755)aaT>aaC p.N1585N LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.N1585N Q99698 LYST_HUMAN lysosomal trafficking regulator 1585 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GGAGGAAAATATTCTCCTGTG 0.418 7 457 --- --- --- --- HEATR1 55127 broad.mit.edu 37 1 236746435 236746435 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:236746435C>A ENST00000366582.3 - 18 2417 c.2303G>T c.(2302-2304)tGg>tTg p.W768L HEATR1_ENST00000366581.2_Missense_Mutation_p.W768L NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 768 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATAATGTGCCCACAGCTCCAC 0.413 7 441 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237060398 237060398 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:237060398G>T ENST00000366577.5 + 32 4085 c.3691G>T c.(3691-3693)Ggg>Tgg p.G1231W MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.G1180W NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1231 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TTTTGCTGTGGGGAAGATTTC 0.408 6 318 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237802315 237802315 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:237802315G>T ENST00000366574.2 + 46 7246 c.6929G>T c.(6928-6930)gGg>gTg p.G2310V RYR2_ENST00000542537.1_Splice_Site_p.G2294V|RYR2_ENST00000360064.6_Splice_Site_p.G2308V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2310 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTACTTTAGGGGAGAGTGTG 0.383 4 51 --- --- --- --- OR2G2 81470 broad.mit.edu 37 1 247751791 247751791 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:247751791G>T ENST00000320065.1 + 1 130 c.130G>T c.(130-132)Ggg>Tgg p.G44W RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 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) AACTATTTTGGGGAATACCAC 0.408 8 444 --- --- --- --- OR2M5 127059 broad.mit.edu 37 1 248308964 248308964 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:248308964G>T ENST00000366476.1 + 1 515 c.515G>T c.(514-516)cGg>cTg p.R172L NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TGTGGGTCTCGGGAAATAGCC 0.428 9 676 --- --- --- --- OR2T4 127074 broad.mit.edu 37 1 248525150 248525150 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr1:248525150C>A ENST00000366475.1 + 1 268 c.268C>A c.(268-270)Ccc>Acc p.P90T NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTCCACACCCCCATGTACTT 0.478 8 501 --- --- --- --- CPSF3 51692 broad.mit.edu 37 2 9595849 9595849 + Silent SNP C C G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:9595849C>G ENST00000460593.1 + 13 2593 c.1455C>G c.(1453-1455)ccC>ccG p.P485P CPSF3_ENST00000238112.3_Silent_p.P522P Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 522 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding p.P522P(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) ATACTGGTCCCTTTAATTTGC 0.383 14 121 --- --- --- --- WDR35 57539 broad.mit.edu 37 2 20113344 20113344 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:20113344G>T ENST00000345530.3 - 28 3636 c.3521C>A c.(3520-3522)cCc>cAc p.P1174H WDR35_ENST00000281405.4_Missense_Mutation_p.P1163H|WDR35_ENST00000416055.2_3'UTR NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1174 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGGCATAAGGGGCAGAAGCT 0.398 6 336 --- --- --- --- CGREF1 10669 broad.mit.edu 37 2 27324218 27324218 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:27324218C>A ENST00000402394.1 - 6 1149 c.881G>T c.(880-882)gGg>gTg p.G294V CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.G277V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G294V|CGREF1_ENST00000404694.3_Missense_Mutation_p.G416V|CGREF1_ENST00000312734.4_Missense_Mutation_p.G294V NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 277 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGTGTTTCCCCTGGAAGTTC 0.557 8 563 --- --- --- --- KRTCAP3 200634 broad.mit.edu 37 2 27666311 27666311 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:27666311G>T ENST00000543753.1 + 5 574 c.527G>T c.(526-528)gGg>gTg p.G176V KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176V|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158V NM_001168364.1 NP_001161836.1 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 176 integral to membrane large_intestine(1)|lung(2) 3 Acute lymphoblastic leukemia(172;0.155) ATGTCTGCAGGGGAGGCTGCT 0.552 5 162 --- --- --- --- IFT172 26160 broad.mit.edu 37 2 27688721 27688721 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:27688721C>A ENST00000260570.3 - 17 1824 c.1721G>T c.(1720-1722)gGg>gTg p.G574V NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 574 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GGTCTTTCCCCCGCCCCGCTC 0.488 9 623 --- --- --- --- IFT172 26160 broad.mit.edu 37 2 27688726 27688726 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:27688726C>A ENST00000260570.3 - 17 1819 c.1716G>T c.(1714-1716)cgG>cgT p.R572R NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 572 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TTCCCCCGCCCCGCTCCAGAC 0.488 11 602 --- --- --- --- SLC30A6 55676 broad.mit.edu 37 2 32418958 32418958 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:32418958G>T ENST00000282587.5 + 8 439 c.402G>T c.(400-402)acG>acT p.T134T SLC30A6_ENST00000379343.2_Splice_Site_p.T174T|SLC30A6_ENST00000406369.1_Splice_Site_p.T60T|SLC30A6_ENST00000435660.1_Splice_Site_p.T134T|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Splice_Site_p.T105T NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 134 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) TTCTTTTTAGGGGAAGATTAT 0.358 6 312 --- --- --- --- NLRC4 58484 broad.mit.edu 37 2 32474764 32474764 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:32474764G>T ENST00000404025.2 - 5 2657 c.2169C>A c.(2167-2169)ccC>ccA p.P723P NLRC4_ENST00000402280.1_Silent_p.P723P|NLRC4_ENST00000360906.5_Silent_p.P723P|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 723 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CTATGGTGAGGGGACTGGCTT 0.458 6 358 --- --- --- --- CDC42EP3 10602 broad.mit.edu 37 2 37873715 37873715 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:37873715G>T ENST00000295324.3 - 2 1016 c.16C>A c.(16-18)Cca>Aca p.P6T AC006369.2_ENST00000419425.1_RNA NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4 NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2 Q9UKI2 BORG2_HUMAN CDC42 effector protein (Rho GTPase binding) 3 6 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) AGGTAAATTGGGGTCTTGGCT 0.418 7 376 --- --- --- --- ATL2 64225 broad.mit.edu 37 2 38536592 38536592 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:38536592G>T ENST00000378954.4 - 9 1001 c.1000C>A c.(1000-1002)Cct>Act p.P334T ATL2_ENST00000332337.4_Missense_Mutation_p.P316T|ATL2_ENST00000406122.1_Missense_Mutation_p.P163T|ATL2_ENST00000402054.1_Missense_Mutation_p.P163T|ATL2_ENST00000546051.1_Missense_Mutation_p.P163T|ATL2_ENST00000419554.2_Missense_Mutation_p.P334T|ATL2_ENST00000539122.1_Missense_Mutation_p.P163T|ATL2_ENST00000452935.2_Missense_Mutation_p.P316T NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 334 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 AAATTTTCAGGGGCAAGCAGC 0.328 6 185 --- --- --- --- ABCG8 64241 broad.mit.edu 37 2 44100976 44100976 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:44100976G>T ENST00000272286.2 + 9 1352 c.1262G>T c.(1261-1263)gGg>gTg p.G421V NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 421 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTCATCCATGGGGCGGAGGCC 0.537 7 463 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48018072 48018072 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:48018072C>A ENST00000234420.5 + 2 419 c.267C>A c.(265-267)gaC>gaA p.D89E MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2)|p.D89E(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACAGTTGTGACTTCTCACCAG 0.433 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 5 201 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48026149 48026149 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:48026149C>A ENST00000234420.5 + 4 1179 c.1027C>A c.(1027-1029)Cct>Act p.P343T MSH6_ENST00000538136.1_Missense_Mutation_p.P41T|MSH6_ENST00000540021.1_Missense_Mutation_p.P213T|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTCTCTGCCCCTCAAAATTC 0.443 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 6 260 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48027463 48027463 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:48027463C>A ENST00000234420.5 + 4 2493 c.2341C>A c.(2341-2343)Cca>Aca p.P781T MSH6_ENST00000538136.1_Missense_Mutation_p.P479T|MSH6_ENST00000540021.1_Missense_Mutation_p.P651T|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2)|p.P781T(1) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCTTTGTGCCCCACTCTGTAA 0.433 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 7 428 --- --- --- --- REL 5966 broad.mit.edu 37 2 61118892 61118892 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:61118892G>T ENST00000295025.8 + 2 405 c.85G>T c.(85-87)Ggg>Tgg p.G29W REL_ENST00000394479.3_Missense_Mutation_p.G29W NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) CAAATGTGAAGGGCGATCAGC 0.453 A Hodgkin Lymphoma 5 211 --- --- --- --- REL 5966 broad.mit.edu 37 2 61148946 61148946 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:61148946G>T ENST00000295025.8 + 11 1456 c.1136G>T c.(1135-1137)gGg>gTg p.G379V REL_ENST00000394479.3_Missense_Mutation_p.G347V NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) ATGCCTACAGGGGTTTCAAGT 0.408 A Hodgkin Lymphoma 6 228 --- --- --- --- B3GNT2 10678 broad.mit.edu 37 2 62449806 62449806 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:62449806C>A ENST00000301998.4 + 2 703 c.451C>A c.(451-453)Ctc>Atc p.L151I B3GNT2_ENST00000405767.1_Missense_Mutation_p.L151I NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 151 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) GATTAAGTCCCTCACTCCACA 0.498 6 228 --- --- --- --- PROKR1 10887 broad.mit.edu 37 2 68882252 68882252 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:68882252G>T ENST00000303786.3 + 3 1146 c.726G>T c.(724-726)gtG>gtT p.V242V PROKR1_ENST00000394342.2_Silent_p.V242V Q8TCW9 PKR1_HUMAN prokineticin receptor 1 242 integral to membrane|plasma membrane neuropeptide Y receptor activity p.V242V(1) endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAGAATTCGTGGGCCCCGTGG 0.557 32 86 --- --- --- --- GFPT1 2673 broad.mit.edu 37 2 69554133 69554133 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:69554133G>T ENST00000357308.4 - 19 2146 c.1968C>A c.(1966-1968)ccC>ccA p.P656P GFPT1_ENST00000361060.5_Silent_p.P638P NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 656 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 CCACTGAGTGGGGCACCTTGA 0.473 5 171 --- --- --- --- SNRNP27 11017 broad.mit.edu 37 2 70122252 70122252 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:70122252C>A ENST00000244227.3 + 2 486 c.61C>A c.(61-63)Cgg>Agg p.R21R SNRNP27_ENST00000409116.1_Silent_p.R21R NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 21 Arg-rich. mRNA processing|RNA splicing nucleus nucleic acid binding p.R21W(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 GTCCACATCCCGGGAGAGAGA 0.562 6 273 --- --- --- --- SNRPG 6637 broad.mit.edu 37 2 70515272 70515272 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:70515272G>T ENST00000482975.2 - 3 839 c.72C>A c.(70-72)ccC>ccA p.P24P SNRPG_ENST00000413456.2_Silent_p.P28P|SNRPG_ENST00000449935.2_Silent_p.P24P|SNRPG_ENST00000454893.1_Silent_p.P36P|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000438261.1_Silent_p.P24P|SNRPG_ENST00000272348.2_Silent_p.P36P P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 36 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding endometrium(1) 1 GGTTCATAAAGGGATCAAATC 0.368 5 172 --- --- --- --- MOGS 7841 broad.mit.edu 37 2 74690103 74690103 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:74690103G>T ENST00000409065.1 - 4 760 c.623C>A c.(622-624)cCc>cAc p.P208H MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000233616.4_Silent_p.P271P|MOGS_ENST00000452063.2_Silent_p.P165P|MOGS_ENST00000535045.1_3'UTR Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 0 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 CTGTCAGCAGGGGCAGTCCTG 0.517 9 323 --- --- --- --- SEMA4C 54910 broad.mit.edu 37 2 97530119 97530119 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:97530119C>A ENST00000305476.5 - 10 1095 c.963G>T c.(961-963)tgG>tgT p.W321C NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 321 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 ACATGTCACCCCTGTCACAGC 0.582 5 172 --- --- --- --- SEMA4C 54910 broad.mit.edu 37 2 97531227 97531227 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:97531227C>A ENST00000305476.5 - 6 600 c.468G>T c.(466-468)aaG>aaT p.K156N NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 156 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GACACTTGCCCTTCCCATCTT 0.567 6 96 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103141515 103141515 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:103141515C>A ENST00000295269.4 + 10 2308 c.1851C>A c.(1849-1851)ccC>ccA p.P617P NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 617 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ACCTCAAACCCCAAACAAGTG 0.498 7 447 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103148815 103148815 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:103148815C>A ENST00000295269.4 + 12 2522 c.2065C>A c.(2065-2067)Cca>Aca p.P689T NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 689 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCCAGGATCCCCATCCATCAC 0.458 6 199 --- --- --- --- SULT1C4 27233 broad.mit.edu 37 2 108998896 108998896 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:108998896C>A ENST00000272452.2 + 3 677 c.351C>A c.(349-351)ccC>ccA p.P117P SULT1C4_ENST00000409309.3_Intron NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 117 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity p.P117P(1) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 CACATCTTCCCTTTCACTTGC 0.388 7 473 --- --- --- --- DDX18 8886 broad.mit.edu 37 2 118577355 118577355 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:118577355C>A ENST00000263239.2 + 3 629 c.501C>A c.(499-501)ccC>ccA p.P167P DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 167 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CCAGTCTGCCCCTGGGACTGA 0.423 4 80 --- --- --- --- GPR17 2840 broad.mit.edu 37 2 128408804 128408804 + Silent SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:128408804G>A ENST00000544369.1 + 4 1190 c.579G>A c.(577-579)ccG>ccA p.P193P LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.P193P|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 193 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled p.P193P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) CCATGGCCCCGCTGCTGGTGA 0.667 45 106 --- --- --- --- WDR33 55339 broad.mit.edu 37 2 128467377 128467377 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:128467377C>A ENST00000322313.4 - 19 3520 c.3362G>T c.(3361-3363)aGg>aTg p.R1121M NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1121 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AAAACCATCCCTTCCTCTGGG 0.557 6 380 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133541067 133541067 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:133541067C>A ENST00000409261.1 - 14 3690 c.3317G>T c.(3316-3318)gGg>gTg p.G1106V NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1106V|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1106 Ser-rich. protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTCATTTACCCCTAAGAAGGA 0.498 8 465 --- --- --- --- ZRANB3 84083 broad.mit.edu 37 2 136026567 136026567 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:136026567G>T ENST00000401392.1 - 11 1563 c.1351C>A c.(1351-1353)Cta>Ata p.L451I ZRANB3_ENST00000536680.1_Missense_Mutation_p.L451I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.L451I Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 451 Helicase C-terminal. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) AGGGTGTCTAGGGTTCCATTT 0.408 6 378 --- --- --- --- SPOPL 339745 broad.mit.edu 37 2 139322356 139322356 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:139322356C>A ENST00000280098.4 + 9 1295 c.916C>A c.(916-918)Ctt>Att p.L306I NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 306 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) TGCAGATACCCTTGTCCTTGC 0.413 7 377 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166929887 166929887 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:166929887G>T ENST00000423058.2 - 1 262 c.245C>A c.(244-246)cCc>cAc p.P82H AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P82H|SCN1A_ENST00000375405.3_Missense_Mutation_p.P82H|SCN1A_ENST00000303395.4_Missense_Mutation_p.P82H|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 82 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GATATAGTAGGGGTCCAGGTC 0.438 6 295 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167142854 167142854 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:167142854G>T ENST00000375387.4 - 11 1937 c.1597C>A c.(1597-1599)Ccc>Acc p.P533T AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.P532T|SCN9A_ENST00000303354.6_Missense_Mutation_p.P533T|SCN9A_ENST00000409672.1_Missense_Mutation_p.P532T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 532 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ACCTGATTGGGGGTAGACAAC 0.443 8 547 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099319 168099319 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:168099319C>A ENST00000409195.1 + 9 1506 c.1417C>A c.(1417-1419)Cct>Act p.P473T XIRP2_ENST00000295237.9_Missense_Mutation_p.P473T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P251T NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 298 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTCCCAGTCCCCTGAACTGCC 0.408 7 180 --- --- --- --- ABCB11 8647 broad.mit.edu 37 2 169847386 169847386 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:169847386C>A ENST00000263817.6 - 9 957 c.833G>T c.(832-834)gGg>gTg p.G278V NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 278 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AGCCACCACCCCTGCTTTGGC 0.398 7 349 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171260843 171260843 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:171260843C>A ENST00000334231.6 + 20 2391 c.2391C>A c.(2389-2391)ccC>ccA p.P797P MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.P788P|MYO3B_ENST00000408978.4_Silent_p.P788P Q8WXR4 MYO3B_HUMAN myosin IIIB 788 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TCCAGAAACCCCTGGGACTGC 0.493 5 172 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179395544 179395544 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:179395544G>T ENST00000589042.1 - 358 106022 c.105798C>A c.(105796-105798)ccC>ccA p.P35266P TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.P32698P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.P26326P|TTN_ENST00000460472.2_Silent_p.P26201P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.P26393P|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000591111.1_Silent_p.P33625P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33625 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) TTGTCTCTGTGGGTGATACGG 0.488 4 110 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179413235 179413235 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:179413235G>T ENST00000589042.1 - 339 93342 c.93118C>A c.(93118-93120)Cct>Act p.P31040T TTN_ENST00000342992.6_Missense_Mutation_p.P28472T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22100T|TTN_ENST00000460472.2_Missense_Mutation_p.P21975T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22167T|TTN_ENST00000591111.1_Missense_Mutation_p.P29399T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29399 Fibronectin type-III 126. 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) TCAAGAAGAGGGGCATCCCAC 0.507 7 386 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179545040 179545040 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:179545040C>A ENST00000589042.1 - 139 33583 c.33359G>T c.(33358-33360)aGg>aTg p.R11120M TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10803M|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10803 Glu-rich.|Pro-rich. 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) TGCGACAACCCTCTTGGGCTT 0.403 8 432 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179640649 179640649 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:179640649C>A ENST00000589042.1 - 28 6166 c.5942G>T c.(5941-5943)aGg>aTg p.R1981M TTN_ENST00000342992.6_Missense_Mutation_p.R1981M|TTN_ENST00000360870.5_Missense_Mutation_p.R1981M|TTN_ENST00000359218.5_Missense_Mutation_p.R1935M|TTN_ENST00000460472.2_Missense_Mutation_p.R1935M|TTN_ENST00000342175.6_Missense_Mutation_p.R1935M|TTN_ENST00000591111.1_Missense_Mutation_p.R1981M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1716 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) TCTTTCAGCCCTTTTCAACTT 0.428 8 492 --- --- --- --- SSFA2 6744 broad.mit.edu 37 2 182780991 182780991 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:182780991G>T ENST00000431877.2 + 11 2803 c.2624G>T c.(2623-2625)gGg>gTg p.G875V SSFA2_ENST00000409001.1_Missense_Mutation_p.G875V|SSFA2_ENST00000320370.7_Missense_Mutation_p.G875V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G722V|SSFA2_ENST00000409136.1_Missense_Mutation_p.G384V NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 875 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) AACATATCAGGGGCTACTTGT 0.522 5 181 --- --- --- --- DNAJC10 54431 broad.mit.edu 37 2 183593382 183593382 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:183593382C>A ENST00000264065.7 + 6 913 c.498C>A c.(496-498)ccC>ccA p.P166P DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Silent_p.P166P NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 Thioredoxin 1. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATTTAGCTCCCACAGTATGTA 0.299 6 238 --- --- --- --- COL3A1 1281 broad.mit.edu 37 2 189863408 189863408 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:189863408G>T ENST00000304636.3 + 29 2156 c.1986G>T c.(1984-1986)aaG>aaT p.K662N COL3A1_ENST00000317840.5_Missense_Mutation_p.K662N NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 662 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGGGTCCAAAGGGTGATGCCG 0.368 4 88 --- --- --- --- HECW2 57520 broad.mit.edu 37 2 197184291 197184291 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:197184291C>A ENST00000260983.3 - 9 1505 c.1323G>T c.(1321-1323)atG>atT p.M441I HECW2_ENST00000409111.1_Missense_Mutation_p.M85I NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GAGAGGCACCCATGGACCTCT 0.502 4 94 --- --- --- --- FAM126B 285172 broad.mit.edu 37 2 201846109 201846109 + Nonsense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:201846109G>A ENST00000418596.3 - 12 1664 c.1477C>T c.(1477-1479)Cag>Tag p.Q493* AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B intracellular p.Q493*(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CGGTCTTCCTGCAGACTGACA 0.512 33 60 --- --- --- --- NRP2 8828 broad.mit.edu 37 2 206562332 206562332 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:206562332C>A ENST00000360409.3 + 2 929 c.138C>A c.(136-138)ccC>ccA p.P46P NRP2_ENST00000272849.3_Silent_p.P46P|NRP2_ENST00000355117.4_Silent_p.P46P|NRP2_ENST00000357118.4_Silent_p.P46P|NRP2_ENST00000417189.1_Silent_p.P46P|NRP2_ENST00000357785.5_Silent_p.P46P|NRP2_ENST00000412873.2_Silent_p.P46P|NRP2_ENST00000540178.1_Silent_p.P46P|NRP2_ENST00000540841.1_Silent_p.P46P NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 46 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCGGTTACCCCCAGGACTACC 0.502 10 611 --- --- --- --- MDH1B 130752 broad.mit.edu 37 2 207615682 207615682 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:207615682G>T ENST00000374412.3 - 6 1303 c.1028C>A c.(1027-1029)cCt>cAt p.P343H MDH1B_ENST00000449792.1_Missense_Mutation_p.P245H|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.P343H NM_001039845.1|NM_001282940.1 NP_001034934.1|NP_001269869.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 343 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) GTTTAAAACAGGGCGTGAATA 0.328 5 169 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209192967 209192967 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:209192967C>A ENST00000264380.4 + 21 3840 c.3682C>A c.(3682-3684)Cag>Aag p.Q1228K NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1228 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CTCTTCTGCCCAGTCCAGCAA 0.438 5 285 --- --- --- --- MAP2 4133 broad.mit.edu 37 2 210518007 210518007 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:210518007G>T ENST00000360351.4 + 4 619 c.113G>T c.(112-114)gGg>gTg p.G38V MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 38 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.G38V(3)|p.G38E(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GGCGGAGCAGGGGAAGGACTT 0.532 4 81 --- --- --- --- RPE 6120 broad.mit.edu 37 2 210881324 210881324 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:210881324G>T ENST00000359429.6 + 4 533 c.436G>T c.(436-438)Ggg>Tgg p.G146W RPE_ENST00000429907.1_Missense_Mutation_p.G78W|RPE_ENST00000452025.1_Missense_Mutation_p.G146W|RPE_ENST00000454822.1_Missense_Mutation_p.G96W|RPE_ENST00000438204.2_Missense_Mutation_p.G78W|RPE_ENST00000411934.2_Missense_Mutation_p.G78W|RPE_ENST00000445268.1_Missense_Mutation_p.G78W|RPE_ENST00000429921.1_Missense_Mutation_p.G96W|RPE_ENST00000435437.2_Missense_Mutation_p.G146W|RPE_ENST00000540255.1_Missense_Mutation_p.G146W|RPE_ENST00000354506.6_Missense_Mutation_p.G138W|RPE_ENST00000436630.2_Missense_Mutation_p.G96W NM_199229.1 NP_954699.1 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase 146 Substrate binding. pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 9 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) AGTGGAACCGGGGTTTGGAGG 0.438 6 278 --- --- --- --- PECR 55825 broad.mit.edu 37 2 216914052 216914052 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:216914052C>A ENST00000265322.7 - 6 722 c.648G>T c.(646-648)tgG>tgT p.W216C PECR_ENST00000497889.1_5'UTR NM_018441.5 NP_060911.2 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase 216 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1) 14 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) AGCTTTGTCCCCAGGAACCAT 0.358 6 318 --- --- --- --- ZNF142 7701 broad.mit.edu 37 2 219508775 219508775 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:219508775C>A ENST00000411696.2 - 7 3243 c.2464G>T c.(2464-2466)Ggg>Tgg p.G822W ZNF142_ENST00000449707.1_Missense_Mutation_p.G822W P52746 ZN142_HUMAN zinc finger protein 142 822 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCACCCGCCCCTCTAGCACC 0.577 7 300 --- --- --- --- ZNF142 7701 broad.mit.edu 37 2 219508853 219508853 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:219508853G>T ENST00000411696.2 - 7 3165 c.2386C>A c.(2386-2388)Cca>Aca p.P796T ZNF142_ENST00000449707.1_Missense_Mutation_p.P796T P52746 ZN142_HUMAN zinc finger protein 142 796 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCAGGTAATGGGGGCAAGGGT 0.532 7 310 --- --- --- --- TTLL4 9654 broad.mit.edu 37 2 219617870 219617870 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:219617870G>T ENST00000392102.1 + 18 3560 c.3220G>T c.(3220-3222)Ggg>Tgg p.G1074W TTLL4_ENST00000258398.4_Missense_Mutation_p.G1074W|TTLL4_ENST00000457313.1_Missense_Mutation_p.G909W|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1010W NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1074 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) GTGCTACAAAGGGTTCCACAT 0.517 8 556 --- --- --- --- FAM134A 79137 broad.mit.edu 37 2 220047109 220047109 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:220047109C>A ENST00000430297.2 + 9 1526 c.1390C>A c.(1390-1392)Cct>Act p.P464T NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 464 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCCCCCTCCCCTTCCATTCT 0.617 6 138 --- --- --- --- EPHA4 2043 broad.mit.edu 37 2 222428928 222428928 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:222428928C>A ENST00000281821.2 - 3 387 c.346G>T c.(346-348)Ggg>Tgg p.G116W EPHA4_ENST00000409938.1_Missense_Mutation_p.G116W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G65W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G116W NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 116 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TTGCAAGTCCCCATGACGCCC 0.463 6 358 --- --- --- --- MFF 56947 broad.mit.edu 37 2 228197205 228197205 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:228197205C>A ENST00000524634.1 + 0 228 MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000353339.3_Silent_p.P110P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P Q9GZY8 MFF_HUMAN mitochondrial fission factor integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 CCTTTAAACCCCTGGCACTGA 0.398 12 844 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233671322 233671322 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:233671322G>T ENST00000373566.3 + 16 2024 c.1827G>T c.(1825-1827)tgG>tgT p.W609C GIGYF2_ENST00000409451.3_Missense_Mutation_p.W608C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.W418C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.W581C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.W609C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.W587C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.W587C Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 587 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TGAAAATGTGGGGAAGGGTTC 0.458 6 352 --- --- --- --- UGT1A1 54658 broad.mit.edu 37 2 234526904 234526904 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:234526904C>A ENST00000373450.4 + 1 614 c.551C>A c.(550-552)cCt>cAt p.P184H NM_019076.4 NP_061949.3 P22309 UD11_HUMAN bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GCACAGTGCCCTGCTCCTCTT 0.493 7 425 --- --- --- --- UGT1A3 54659 broad.mit.edu 37 2 234638401 234638401 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:234638401G>T ENST00000482026.1 + 1 648 c.629G>T c.(628-630)aGg>aTg p.R210M UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R210M|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTCATGCAAAGGGTCAAGAAC 0.453 8 439 --- --- --- --- COL6A3 1293 broad.mit.edu 37 2 238274414 238274414 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:238274414G>T ENST00000295550.4 - 12 6217 c.5765C>A c.(5764-5766)cCc>cAc p.P1922H COL6A3_ENST00000346358.4_Missense_Mutation_p.P1722H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1716H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1721H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1315H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1716H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1922 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAGGACGTAGGGGTGCTGGCT 0.612 6 126 --- --- --- --- COL6A3 1293 broad.mit.edu 37 2 238275770 238275770 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:238275770G>T ENST00000295550.4 - 11 5512 c.5060C>A c.(5059-5061)cCc>cAc p.P1687H COL6A3_ENST00000346358.4_Missense_Mutation_p.P1487H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1481H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1486H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1080H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1481H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1687 Nonhelical region.|VWFA 9. P -> S (in dbSNP:rs35273032). axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTCGTCAGTGGGGTCAGAGTT 0.473 4 65 --- --- --- --- RAB17 64284 broad.mit.edu 37 2 238494758 238494758 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:238494758G>T ENST00000264601.3 - 2 669 c.40C>A c.(40-42)Ccc>Acc p.P14T RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000416106.1_5'UTR NM_022449.3 NP_071894.1 Q9H0T7 RAB17_HUMAN RAB17, member RAS oncogene family 14 protein transport|small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1) 4 Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221) Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026) GGCTGGCTGGGGGCAGCCCTG 0.582 4 82 --- --- --- --- MTERFD2 130916 broad.mit.edu 37 2 242035730 242035730 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr2:242035730G>T ENST00000391980.2 - 4 887 c.829C>A c.(829-831)Cct>Act p.P277T MTERFD2_ENST00000406593.1_Missense_Mutation_p.P89T|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 277 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) TTCTTATCAGGGGTTTGGTAC 0.468 6 319 --- --- --- --- CHL1 10752 broad.mit.edu 37 3 367694 367694 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:367694C>A ENST00000256509.2 + 4 786 c.144C>A c.(142-144)ccC>ccA p.P48P CHL1_ENST00000397491.2_Silent_p.P48P NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 48 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTGCCTTTCCCTTCGATGAGT 0.348 5 140 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1424996 1424996 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:1424996G>T ENST00000446702.2 + 19 3048 c.2421G>T c.(2419-2421)agG>agT p.R807S CNTN6_ENST00000350110.2_Missense_Mutation_p.R807S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R735S Q9UQ52 CNTN6_HUMAN contactin 6 807 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGGCCCCAAGGGGAACTTCTC 0.438 8 448 --- --- --- --- SLC6A11 6538 broad.mit.edu 37 3 10976836 10976836 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:10976836C>A ENST00000254488.2 + 13 1763 c.1697C>A c.(1696-1698)cCg>cAg p.P566Q NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 566 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.P566Q(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) CTCTGCATCCCGCTCTGGATC 0.602 6 192 --- --- --- --- HDAC11 79885 broad.mit.edu 37 3 13538270 13538270 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:13538270C>A ENST00000295757.3 + 4 470 c.287C>A c.(286-288)cCc>cAc p.P96H HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P68H|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P68H|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 96 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|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(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 ACAGAAATCCCCCCCGTTATC 0.587 OREG0015411 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 88 --- --- --- --- ZFYVE20 64145 broad.mit.edu 37 3 15131941 15131941 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:15131941C>A ENST00000253699.3 - 5 867 c.254G>T c.(253-255)gGg>gTg p.G85V ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G85V|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G85V|ZFYVE20_ENST00000449964.2_5'UTR NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 85 blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 AGGATCAACCCCTCCATAGCT 0.443 6 201 --- --- --- --- RFTN1 23180 broad.mit.edu 37 3 16358387 16358387 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:16358387C>A ENST00000334133.4 - 10 1957 c.1685G>T c.(1684-1686)aGg>aTg p.R562M OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.R526M|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 562 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 ATCCCCGTCCCTGGCATCCTC 0.567 7 388 --- --- --- --- OXSM 54995 broad.mit.edu 37 3 25833460 25833460 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:25833460C>A ENST00000280701.3 + 2 1048 c.949C>A c.(949-951)Cct>Act p.P317T OXSM_ENST00000420173.2_Missense_Mutation_p.P234T NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 317 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 CATAACTGCCCCTGATCCTGA 0.428 6 205 --- --- --- --- SLC4A7 9497 broad.mit.edu 37 3 27436109 27436109 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:27436109C>A ENST00000295736.5 - 20 3060 c.2990G>T c.(2989-2991)gGg>gTg p.G997V SLC4A7_ENST00000437179.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G882V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G547V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G873V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G1006V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G989V NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 997 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GGGTTGTTCCCCTGGAGCAGA 0.433 5 166 --- --- --- --- OSBPL10 114884 broad.mit.edu 37 3 31710260 31710260 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:31710260C>A ENST00000396556.2 - 10 2092 c.1970G>T c.(1969-1971)gGg>gTg p.G657V OSBPL10_ENST00000438237.2_Missense_Mutation_p.G593V NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 657 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) ATTCCATTCCCCATGGGCTTT 0.418 8 345 --- --- --- --- GOLGA4 2803 broad.mit.edu 37 3 37388772 37388772 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:37388772G>T ENST00000361924.2 + 21 6935 c.6561G>T c.(6559-6561)atG>atT p.M2187I GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2202I|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 2187 GRIP. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGTATATGATGGGTCGTGAGA 0.363 5 168 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38138188 38138188 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:38138188G>T ENST00000308059.6 + 15 2321 c.2300G>T c.(2299-2301)gGg>gTg p.G767V DLEC1_ENST00000346219.3_Missense_Mutation_p.G767V|DLEC1_ENST00000452631.2_Missense_Mutation_p.G767V Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 767 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ATCATCCCAGGGGAGAACTAC 0.488 6 319 --- --- --- --- ACAA1 30 broad.mit.edu 37 3 38167373 38167373 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:38167373C>A ENST00000333167.8 - 10 1170 c.e10-1 ACAA1_ENST00000480865.1_Splice_Site|ACAA1_ENST00000301810.7_Splice_Site|ACAA1_ENST00000450296.1_Splice_Site NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) ACTGTCAGCCCTGCAGACAAG 0.582 4 142 --- --- --- --- XIRP1 165904 broad.mit.edu 37 3 39227674 39227674 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:39227674G>T ENST00000340369.3 - 2 3491 c.3263C>A c.(3262-3264)cCc>cAc p.P1088H XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P1088H NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1088 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTCCTGGATGGGGTTGGAAGT 0.597 5 133 --- --- --- --- ENTPD3 956 broad.mit.edu 37 3 40456250 40456250 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:40456250G>T ENST00000301825.3 + 6 634 c.516G>T c.(514-516)agG>agT p.R172S ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R172S|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R172S NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 172 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) TTGACTTTAGGGGTGCTCAAA 0.428 6 344 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41275023 41275023 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:41275023G>T ENST00000349496.5 + 9 1469 c.1189G>T c.(1189-1191)Ggg>Tgg p.G397W CTNNB1_ENST00000396183.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G397W|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G390W NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 397 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TCCATAGGAAGGGATGGAAGG 0.428 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 6 329 --- --- --- --- ZNF197 10168 broad.mit.edu 37 3 44673623 44673623 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:44673623C>A ENST00000396058.1 + 3 744 c.577C>A c.(577-579)Ctt>Att p.L193I ZNF197_ENST00000383745.2_Missense_Mutation_p.L193I|ZNF197_ENST00000383744.4_Missense_Mutation_p.L193I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.L193I O14709 ZN197_HUMAN zinc finger protein 197 193 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AGCTTCTGCCCTTTCCCAGGA 0.498 7 475 --- --- --- --- LTF 4057 broad.mit.edu 37 3 46492139 46492139 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:46492139C>A ENST00000231751.4 - 7 1023 c.728G>T c.(727-729)aGg>aTg p.R243M LTF_ENST00000426532.2_Missense_Mutation_p.R199M|LTF_ENST00000417439.1_Missense_Mutation_p.R243M NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 243 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) ATACTCGTCCCTTTCAGCCTC 0.557 6 168 --- --- --- --- RTP3 83597 broad.mit.edu 37 3 46542219 46542219 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:46542219C>A ENST00000296142.3 + 2 1101 c.529C>A c.(529-531)Cca>Aca p.P177T NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 177 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) ATCTCAGACCCCAAGAGTACA 0.522 5 152 --- --- --- --- MAP4 4134 broad.mit.edu 37 3 47951275 47951275 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:47951275C>A ENST00000426837.2 - 10 4774 c.4687G>T c.(4687-4689)Ggg>Tgg p.G1563W MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.G153W|MAP4_ENST00000360240.6_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 933 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) ATCACATGCCCTTCATCGATC 0.438 5 206 --- --- --- --- ATRIP 84126 broad.mit.edu 37 3 48506045 48506045 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:48506045G>T ENST00000412052.1 + 11 2222 c.1760G>T c.(1759-1761)tGc>tTc p.C587F ATRIP_ENST00000357105.6_Missense_Mutation_p.C553F|ATRIP_ENST00000320211.3_Missense_Mutation_p.C680F|ATRIP_ENST00000346691.4_Intron NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 680 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity p.C680F(1) central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCTCCAACTGCCAGTGTAAT 0.607 Other conserved DNA damage response genes 5 158 --- --- --- --- TREX1 11277 broad.mit.edu 37 3 48508890 48508890 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:48508890C>A ENST00000296443.9 + 3 1723 c.836C>A c.(835-837)cCt>cAt p.P279H TREX1_ENST00000456089.1_Missense_Mutation_p.P140H|TREX1_ENST00000422277.2_Missense_Mutation_p.P334H|TREX1_ENST00000436480.2_Missense_Mutation_p.P279H|TREX1_ENST00000444177.1_Missense_Mutation_p.P269H|TREX1_ENST00000433541.1_Missense_Mutation_p.P140H Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 334 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GTGAAGGACCCTGGAGCCCTA 0.602 5 112 --- --- --- --- CCDC71 64925 broad.mit.edu 37 3 49201177 49201177 + Silent SNP C C A rs142878485 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:49201177C>A ENST00000321895.6 - 2 571 c.465G>T c.(463-465)cgG>cgT p.R155R NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 155 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTGCTGCACCCCGGGCATGGC 0.592 4 72 --- --- --- --- BSN 8927 broad.mit.edu 37 3 49692404 49692404 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:49692404C>A ENST00000296452.4 + 5 5529 c.5415C>A c.(5413-5415)ccC>ccA p.P1805P NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1805 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ATAACCTACCCAACCAAGTAG 0.592 6 198 --- --- --- --- ALAS1 211 broad.mit.edu 37 3 52240720 52240720 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:52240720C>A ENST00000394965.2 + 8 1478 c.1118C>A c.(1117-1119)cCc>cAc p.P373H ALAS1_ENST00000484952.1_Missense_Mutation_p.P373H|ALAS1_ENST00000310271.2_Missense_Mutation_p.P373H|ALAS1_ENST00000469224.1_Missense_Mutation_p.P373H NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 373 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGATCTGACCCCTCAGTCCCC 0.473 6 200 --- --- --- --- WDR82 80335 broad.mit.edu 37 3 52293888 52293888 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:52293888C>A ENST00000296490.3 - 6 825 c.544G>T c.(544-546)Ggg>Tgg p.G182W NM_025222.3 NP_079498.2 Q6UXN9 WDR82_HUMAN WD repeat domain 82 182 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) GCAAATGGCCCCTGCAAAAGA 0.403 6 224 --- --- --- --- STAB1 23166 broad.mit.edu 37 3 52547910 52547910 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:52547910C>A ENST00000321725.6 + 32 3436 c.3360C>A c.(3358-3360)ccC>ccA p.P1120P NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1120 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTTACTGCCCCCCCGAGGGG 0.622 9 354 --- --- --- --- STAB1 23166 broad.mit.edu 37 3 52557149 52557149 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:52557149G>T ENST00000321725.6 + 63 7095 c.7019G>T c.(7018-7020)gGg>gTg p.G2340V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2340 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ACCTTCTATGGGGTGTGTGGG 0.622 5 91 --- --- --- --- ACTR8 93973 broad.mit.edu 37 3 53905310 53905310 + Nonsense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:53905310C>A ENST00000335754.3 - 11 1616 c.1516G>T c.(1516-1518)Gga>Tga p.G506* ACTR8_ENST00000231909.7_Nonsense_Mutation_p.G211*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.G395* NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 506 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding p.G506*(1)|p.G211*(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) AGGGCTTTTCCTTCAAACAGC 0.547 6 234 --- --- --- --- ACTR8 93973 broad.mit.edu 37 3 53912392 53912392 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:53912392G>T ENST00000335754.3 - 3 497 c.397C>A c.(397-399)Cct>Act p.P133T ACTR8_ENST00000482349.1_Missense_Mutation_p.P22T NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 133 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) ACCTGTTCAGGGGACACAGGA 0.363 7 425 --- --- --- --- SLMAP 7871 broad.mit.edu 37 3 57882650 57882650 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:57882650C>A ENST00000383718.3 + 15 1527 c.1429C>A c.(1429-1431)Ctt>Att p.L477I SLMAP_ENST00000442599.2_Missense_Mutation_p.L15I|SLMAP_ENST00000494088.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295951.3_Missense_Mutation_p.L464I|SLMAP_ENST00000449503.2_Missense_Mutation_p.L443I|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000416870.1_Missense_Mutation_p.L15I|SLMAP_ENST00000428312.1_Missense_Mutation_p.L481I|SLMAP_ENST00000495364.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295952.3_Missense_Mutation_p.L464I Q14BN4 SLMAP_HUMAN sarcolemma associated protein 481 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding p.L464F(1) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CAAAGTGTCCCTTTTAAAAGG 0.343 6 236 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66467662 66467662 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:66467662C>A ENST00000383703.3 - 4 997 c.394G>T c.(394-396)Ggg>Tgg p.G132W LRIG1_ENST00000273261.3_Missense_Mutation_p.G132W Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 132 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) AGCTGGCTCCCCTCCACGCTG 0.483 7 369 --- --- --- --- C3orf38 285237 broad.mit.edu 37 3 88202481 88202481 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:88202481G>T ENST00000318887.3 + 2 545 c.235G>T c.(235-237)Ggg>Tgg p.G79W C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Missense_Mutation_p.G79W NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 79 apoptosis breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) GGCAACACAGGGGATTGTTAT 0.398 5 191 --- --- --- --- PROS1 5627 broad.mit.edu 37 3 93615462 93615462 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:93615462C>A ENST00000394236.3 - 9 1239 c.923G>T c.(922-924)gGg>gTg p.G308V PROS1_ENST00000407433.1_Missense_Mutation_p.G177V NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 308 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TAAAACAACCCCTGCAAACTG 0.373 6 294 --- --- --- --- ARL13B 200894 broad.mit.edu 37 3 93769675 93769675 + Missense_Mutation SNP G G T rs139897675 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:93769675G>T ENST00000535334.1 + 8 1363 c.840G>T c.(838-840)tgG>tgT p.W280C ARL13B_ENST00000539730.1_Missense_Mutation_p.W104C|ARL13B_ENST00000471138.1_Missense_Mutation_p.W383C|ARL13B_ENST00000394222.3_Missense_Mutation_p.W383C|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.W276C NM_001174151.1 NP_001167622.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 383 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 TAGTTGGCTGGGGAACCCCTA 0.378 5 132 --- --- --- --- NSUN3 63899 broad.mit.edu 37 3 93803223 93803223 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:93803223G>T ENST00000314622.4 + 3 606 c.395G>T c.(394-396)gGg>gTg p.G132V NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 132 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 TTAAGGGATGGGGAGAAGGTT 0.453 6 133 --- --- --- --- EPHA6 285220 broad.mit.edu 37 3 96706580 96706580 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:96706580G>T ENST00000389672.5 + 3 895 c.857G>T c.(856-858)gGg>gTg p.G286V EPHA6_ENST00000470610.2_Missense_Mutation_p.G286V|EPHA6_ENST00000542517.1_Missense_Mutation_p.G192V NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 191 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CAAGACATTGGGGCGTGCATT 0.458 9 573 --- --- --- --- CRYBG3 131544 broad.mit.edu 37 3 97662113 97662113 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:97662113C>A ENST00000182096.4 + 19 3088 c.3024C>A c.(3022-3024)ccC>ccA p.P1008P CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.P215P NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TAAATCAGCCCCTGGAGGGAG 0.363 5 103 --- --- --- --- OR5AC2 81050 broad.mit.edu 37 3 97806257 97806257 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:97806257C>A ENST00000358642.2 + 1 241 c.241C>A c.(241-243)Cct>Act p.P81T NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CTCTATAACCCCTAGGATGCT 0.418 7 477 --- --- --- --- MYH15 22989 broad.mit.edu 37 3 108117984 108117984 + Missense_Mutation SNP A A T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:108117984A>T ENST00000273353.3 - 35 4983 c.4927T>A c.(4927-4929)Tgt>Agt p.C1643S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1643 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.C1643S(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CGGTTGGCACAGCTAAGCTGG 0.488 66 96 --- --- --- --- SIDT1 54847 broad.mit.edu 37 3 113286504 113286504 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:113286504C>A ENST00000264852.4 + 3 1188 c.462C>A c.(460-462)ccC>ccA p.P154P SIDT1_ENST00000393830.3_Silent_p.P154P NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 154 integral to membrane p.P154P(2) breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CCATGGCACCCCTGGGTGCTC 0.502 6 345 --- --- --- --- ZDHHC23 254887 broad.mit.edu 37 3 113672875 113672875 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:113672875G>T ENST00000330212.3 + 3 789 c.490G>T c.(490-492)Ggg>Tgg p.G164W ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G158W NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 164 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 GGTCCCCAAAGGGCGTGTGGG 0.517 6 269 --- --- --- --- PARP15 165631 broad.mit.edu 37 3 122340367 122340367 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:122340367G>T ENST00000483793.1 + 6 802 c.762G>T c.(760-762)ggG>ggT p.G254G PARP15_ENST00000310366.4_Silent_p.G146G|PARP15_ENST00000464300.2_Silent_p.G380G|PARP15_ENST00000493645.1_Silent_p.G146G|PARP15_ENST00000465304.1_3'UTR Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) ATGTTCCTGGGGGAAAAGATG 0.418 5 177 --- --- --- --- COPG1 22820 broad.mit.edu 37 3 128971467 128971467 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:128971467G>T ENST00000314797.6 + 4 277 c.173G>T c.(172-174)gGg>gTg p.G58V NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 58 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity TTAACACAGGGGGAGCACCTG 0.532 6 209 --- --- --- --- DNAJC13 23317 broad.mit.edu 37 3 132211347 132211347 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:132211347C>A ENST00000260818.6 + 33 3961 c.3713C>A c.(3712-3714)cCc>cAc p.P1238H NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1238 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CAGTATTGCCCCATTCCTATA 0.408 10 581 --- --- --- --- SRPRB 58477 broad.mit.edu 37 3 133525537 133525537 + Missense_Mutation SNP T T G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:133525537T>G ENST00000466490.2 + 3 524 c.239T>G c.(238-240)cTc>cGc p.L80R NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 80 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity p.L80R(1) breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AAAACGTTGCTCTTTGTCAGG 0.403 21 165 --- --- --- --- CLSTN2 64084 broad.mit.edu 37 3 140122471 140122471 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:140122471G>T ENST00000458420.3 + 3 423 c.233G>T c.(232-234)gGg>gTg p.G78V NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 78 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCTTCTGCAGGGGAAATCTGT 0.542 HNSCC(16;0.037) 9 328 --- --- --- --- RASA2 5922 broad.mit.edu 37 3 141272749 141272749 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:141272749C>A ENST00000286364.3 + 6 613 c.578C>A c.(577-579)cCt>cAt p.P193H RASA2_ENST00000452898.1_Missense_Mutation_p.P193H Q15283 RASA2_HUMAN RAS p21 protein activator 2 193 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 AGCTGTGACCCTTATGCAACA 0.318 6 288 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877858 150877858 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:150877858C>A ENST00000474524.1 + 7 1115 c.1077C>A c.(1075-1077)ccC>ccA p.P359P MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.P359P|MED12L_ENST00000309237.4_Silent_p.P359P NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 359 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCATGGTCCCCTGGTTTATG 0.522 6 336 --- --- --- --- IGSF10 285313 broad.mit.edu 37 3 151166339 151166339 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:151166339C>A ENST00000282466.3 - 4 1429 c.1430G>T c.(1429-1431)aGg>aTg p.R477M NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 477 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTGTTATCCCTTGAAATCAT 0.473 8 329 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160143934 160143934 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:160143934C>A ENST00000357388.3 + 17 3002 c.2551C>A c.(2551-2553)Cct>Act p.P851T SMC4_ENST00000344722.5_Missense_Mutation_p.P851T|SMC4_ENST00000462787.1_Missense_Mutation_p.P851T|SMC4_ENST00000469762.1_Missense_Mutation_p.P826T|SMC4_ENST00000360111.2_Missense_Mutation_p.P851T|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 851 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGCTACAGCCCCTGACAAAAA 0.338 8 430 --- --- --- --- PPM1L 151742 broad.mit.edu 37 3 160783260 160783260 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:160783260G>T ENST00000498165.1 + 3 745 c.644G>T c.(643-645)gGg>gTg p.G215V PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36V|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88V NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 215 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GACTCGCGCGGGGTCCTGTGT 0.483 6 161 --- --- --- --- SLITRK3 22865 broad.mit.edu 37 3 164905816 164905816 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:164905816G>T ENST00000475390.1 - 2 3246 c.2803C>A c.(2803-2805)Ctt>Att p.L935I SLITRK3_ENST00000241274.3_Missense_Mutation_p.L935I O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 935 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GAGAAGAGAAGGGTTTCTTTG 0.498 HNSCC(40;0.11) 8 426 --- --- --- --- FNDC3B 64778 broad.mit.edu 37 3 172070714 172070714 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:172070714C>A ENST00000336824.4 + 22 2735 c.2636C>A c.(2635-2637)cCt>cAt p.P879H FNDC3B_ENST00000416957.1_Missense_Mutation_p.P879H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P879H NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 879 Fibronectin type-III 7. 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) GATGCCTACCCTGATTCACCT 0.547 5 141 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039469 184039469 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:184039469C>A ENST00000342981.4 + 9 1511 c.1097C>A c.(1096-1098)cCa>cAa p.P366Q EIF4G1_ENST00000411531.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P202Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P366Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P279Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P366Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P373Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P170Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P279Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P202Q NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 366 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCATGGTCCCATCTGAAGAT 0.552 7 280 --- --- --- --- TPRG1 285386 broad.mit.edu 37 3 188925227 188925227 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:188925227G>T ENST00000345063.3 + 2 221 c.54G>T c.(52-54)gaG>gaT p.E18D TPRG1_ENST00000433971.1_Missense_Mutation_p.E18D NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 18 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) TGAAGCAAGAGGGAGATGACC 0.458 5 182 --- --- --- --- LSG1 55341 broad.mit.edu 37 3 194379704 194379704 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:194379704G>T ENST00000265245.5 - 7 1055 c.741C>A c.(739-741)ccC>ccA p.P247P NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 247 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CACCATTCAGGGGAATGGCTC 0.453 6 343 --- --- --- --- UBXN7 26043 broad.mit.edu 37 3 196094919 196094919 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr3:196094919G>T ENST00000296328.4 - 8 888 c.814C>A c.(814-816)Ccc>Acc p.P272T UBXN7_ENST00000428095.1_Missense_Mutation_p.P110T|UBXN7_ENST00000535858.1_Missense_Mutation_p.P124T NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 272 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CATTTTTTGGGGGGACTGCTA 0.403 6 278 --- --- --- --- ADD1 118 broad.mit.edu 37 4 2929972 2929972 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:2929972C>A ENST00000264758.7 + 15 2217 c.2029C>A c.(2029-2031)Cct>Act p.P677T ADD1_ENST00000398129.1_Missense_Mutation_p.P646T|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.P646T NM_014189.3 NP_054908.2 P35611 ADDA_HUMAN adducin 1 (alpha) 646 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CGATCTGTCCCCTGATGAACC 0.577 8 466 --- --- --- --- AFAP1 60312 broad.mit.edu 37 4 7787997 7787997 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:7787997C>A ENST00000420658.1 - 12 1726 c.1454G>T c.(1453-1455)gGg>gTg p.G485V AFAP1_ENST00000382543.3_Missense_Mutation_p.G485V|AFAP1_ENST00000358461.2_Missense_Mutation_p.G485V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Missense_Mutation_p.G485V NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 485 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GGAGGTGCCCCCTAGATATGG 0.488 6 232 --- --- --- --- LAP3 51056 broad.mit.edu 37 4 17590565 17590565 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:17590565C>A ENST00000226299.4 + 7 1102 c.828C>A c.(826-828)ccC>ccA p.P276P AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.P245P|LAP3_ENST00000503467.1_3'UTR NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 276 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 ACGAACCACCCCTGGTGTTTG 0.443 8 254 --- --- --- --- NCAPG 64151 broad.mit.edu 37 4 17839311 17839311 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:17839311C>A ENST00000251496.2 + 16 2529 c.2353C>A c.(2353-2355)Cct>Act p.P785T NM_022346.4 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 785 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) GGCCAATGCCCCTGCATCTTC 0.398 10 464 --- --- --- --- GPR125 166647 broad.mit.edu 37 4 22390780 22390780 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:22390780G>T ENST00000334304.5 - 18 2923 c.2654C>A c.(2653-2655)cCc>cAc p.P885H GPR125_ENST00000282943.5_5'UTR NM_145290.3 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 885 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) AACAATGATGGGGATACCACC 0.413 6 355 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26432054 26432054 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:26432054G>T ENST00000342320.4 + 10 1231 c.1055G>T c.(1054-1056)gGg>gTg p.G352V RBPJ_ENST00000345843.3_Missense_Mutation_p.G351V|RBPJ_ENST00000342295.1_Missense_Mutation_p.G366V|RBPJ_ENST00000348160.4_Missense_Mutation_p.G353V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000361572.6_Missense_Mutation_p.G366V|RBPJ_ENST00000355476.3_Missense_Mutation_p.G352V|RBPJ_ENST00000507561.1_Missense_Mutation_p.G331V Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 366 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) AATGGCGGTGGGGACGTAGCA 0.363 5 162 --- --- --- --- PGM2 55276 broad.mit.edu 37 4 37839188 37839188 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:37839188G>T ENST00000381967.4 + 4 494 c.394G>T c.(394-396)Ggg>Tgg p.G132W PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 132 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TATCAGTCAGGGGATTCCTGT 0.463 6 351 --- --- --- --- KLHL5 51088 broad.mit.edu 37 4 39109314 39109314 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:39109314C>A ENST00000261425.3 + 9 1803 c.1651C>A c.(1651-1653)Cct>Act p.P551T KLHL5_ENST00000261426.5_Missense_Mutation_p.P536T|KLHL5_ENST00000359687.2_Missense_Mutation_p.P597T|KLHL5_ENST00000508137.2_Missense_Mutation_p.P410T|KLHL5_ENST00000504108.1_Missense_Mutation_p.P597T|KLHL5_ENST00000381930.3_Missense_Mutation_p.P597T NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 597 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TATGTCTACCCCTAGGAGTAC 0.418 5 131 --- --- --- --- KCTD8 386617 broad.mit.edu 37 4 44177054 44177054 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:44177054G>T ENST00000360029.3 - 2 1458 c.1175C>A c.(1174-1176)cCc>cAc p.P392H NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 392 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TTTTTTAGAGGGGCGATCCAA 0.507 HNSCC(17;0.042) 7 424 --- --- --- --- TECRL 253017 broad.mit.edu 37 4 65147241 65147241 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:65147241G>T ENST00000381210.3 - 10 979 c.869C>A c.(868-870)cCc>cAc p.P290H TECRL_ENST00000507440.1_Missense_Mutation_p.P290H NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 290 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CCATGTGAAGGGGTTATAATT 0.328 5 161 --- --- --- --- UGT2A3 79799 broad.mit.edu 37 4 69798449 69798449 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:69798449C>A ENST00000251566.4 - 3 923 c.893G>T c.(892-894)gGg>gTg p.G298V UGT2A3_ENST00000420231.2_Missense_Mutation_p.G9V NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 298 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACCATCTTCCCCTGAACTCTG 0.358 8 373 --- --- --- --- ADAMTS3 9508 broad.mit.edu 37 4 73186567 73186567 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:73186567C>A ENST00000286657.4 - 7 1002 c.966G>T c.(964-966)agG>agT p.R322S NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 322 Peptidase M12B. 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) ATGGGTTTCCCCTTTCTATGA 0.428 5 152 --- --- --- --- CCDC158 339965 broad.mit.edu 37 4 77276527 77276527 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:77276527G>T ENST00000388914.3 - 14 2388 c.2236C>A c.(2236-2238)Ctt>Att p.L746I NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 746 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTGCTCTGAAGGGCATCTATC 0.438 7 468 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123291 81123291 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:81123291C>A ENST00000339711.4 + 10 1906 c.675C>A c.(673-675)ccC>ccA p.P225P PRDM8_ENST00000504452.1_Silent_p.P225P|PRDM8_ENST00000415738.2_Silent_p.P225P NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 225 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 GCCCGGGTCCCAAGTTTTGCA 0.697 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 28 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85664946 85664946 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:85664946G>T ENST00000322366.6 - 37 6387 c.5980C>A c.(5980-5982)Cct>Act p.P1994T WDFY3_ENST00000295888.4_Missense_Mutation_p.P1994T Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1994 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GACCTTTCAGGGGAAGCCTAA 0.318 6 118 --- --- --- --- HSD17B11 51170 broad.mit.edu 37 4 88303482 88303482 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:88303482C>A ENST00000358290.4 - 2 558 c.243G>T c.(241-243)aaG>aaT p.K81N HSD17B11_ENST00000507286.1_Missense_Mutation_p.K81N NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 81 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) CACCCAGTCCCTTGCATTTGG 0.398 6 385 --- --- --- --- TACR3 6870 broad.mit.edu 37 4 104510993 104510993 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:104510993G>T ENST00000304883.2 - 5 1384 c.1244C>A c.(1243-1245)cCc>cAc p.P415H RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 415 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGCATCGTTGGGGTCAAACAC 0.512 8 517 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114176921 114176921 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:114176921C>A ENST00000357077.4 + 11 1074 c.1021C>A c.(1021-1023)Cag>Aag p.Q341K ANK2_ENST00000264366.6_Missense_Mutation_p.Q341K|ANK2_ENST00000506722.1_Missense_Mutation_p.Q320K|ANK2_ENST00000394537.3_Missense_Mutation_p.Q341K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 341 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CATGGCTGCCCAGGGAGACCA 0.458 7 251 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126242169 126242169 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:126242169C>A ENST00000394329.3 + 1 4616 c.4603C>A c.(4603-4605)Ctt>Att p.L1535I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1535 Cadherin 15. 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 ACAAAACGCCCTTGCTGCAGA 0.433 7 372 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126411433 126411433 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:126411433G>T ENST00000394329.3 + 17 13469 c.13456G>T c.(13456-13458)Ggg>Tgg p.G4486W FAT4_ENST00000335110.5_Missense_Mutation_p.G2727W NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4486 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 AAGTCCTGCGGGGCATGTCTG 0.617 5 162 --- --- --- --- PCDH18 54510 broad.mit.edu 37 4 138449941 138449941 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:138449941C>A ENST00000344876.4 - 2 2907 c.2521G>T c.(2521-2523)Ggg>Tgg p.G841W PCDH18_ENST00000412923.2_Missense_Mutation_p.G840W|PCDH18_ENST00000507846.1_Missense_Mutation_p.G620W|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52W|PCDH18_ENST00000511115.1_Missense_Mutation_p.G21W NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 841 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGATATTGCCCCTGGTGAAGC 0.403 7 300 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140641171 140641171 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:140641171C>A ENST00000509479.2 - 5 3579 c.2723G>T c.(2722-2724)gGg>gTg p.G908V MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 904 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) CATTCCAACCCCCTGCCCAGA 0.557 7 390 --- --- --- --- FGG 2266 broad.mit.edu 37 4 155526061 155526061 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:155526061C>A ENST00000404648.3 - 9 1526 c.1287G>T c.(1285-1287)ggG>ggT p.G429G FGG_ENST00000405164.1_Silent_p.G437G|FGG_ENST00000336098.3_Silent_p.G429G|FGG_ENST00000407946.1_Silent_p.G437G NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 429 Platelet aggregation and Staphylococcus clumping. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTTTGGCTCCCCCCAGGTGGT 0.448 8 358 --- --- --- --- GLRB 2743 broad.mit.edu 37 4 158073995 158073995 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:158073995C>A ENST00000264428.4 + 9 1300 c.1030C>A c.(1030-1032)Ctg>Atg p.L344M GLRB_ENST00000509282.1_Missense_Mutation_p.L344M|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 344 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GTTTGCTTCCCTGGTGGAGTA 0.488 5 168 --- --- --- --- NAF1 92345 broad.mit.edu 37 4 164050386 164050386 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:164050386G>T ENST00000274054.2 - 8 1341 c.1148C>A c.(1147-1149)cCt>cAt p.P383H NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 383 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) GCAAGATCGAGGGTATCTGGC 0.438 5 165 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187541626 187541626 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr4:187541626G>T ENST00000441802.2 - 10 6323 c.6114C>A c.(6112-6114)ccC>ccA p.P2038P NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2038 Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CACGATCGAAGGGCGTGCCAG 0.488 HNSCC(5;0.00058) 7 407 --- --- --- --- SDHA 6389 broad.mit.edu 37 5 233690 233690 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:233690C>A ENST00000264932.6 + 8 1109 c.994C>A c.(994-996)Cct>Act p.P332T SDHA_ENST00000510361.1_Missense_Mutation_p.P284T|SDHA_ENST00000504309.1_Missense_Mutation_p.P332T NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 332 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GCGATACGCCCCTGTCGCGAA 0.527 Familial Paragangliomas 6 242 --- --- --- --- CEP72 55722 broad.mit.edu 37 5 635690 635690 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:635690C>A ENST00000264935.5 + 6 985 c.895C>A c.(895-897)Cca>Aca p.P299T CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 299 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GTACTTCACCCCACACCCAGG 0.532 5 115 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26881607 26881607 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:26881607G>T ENST00000231021.4 - 12 2180 c.2008C>A c.(2008-2010)Caa>Aaa p.Q670K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 670 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TCAAAAGCTTGGGTATCTTCT 0.433 6 390 --- --- --- --- RAI14 26064 broad.mit.edu 37 5 34821917 34821917 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:34821917C>A ENST00000265109.3 + 14 1362 c.1075C>A c.(1075-1077)Ctt>Att p.L359I RAI14_ENST00000512629.1_Missense_Mutation_p.L330I|RAI14_ENST00000503673.1_Missense_Mutation_p.L359I|RAI14_ENST00000397449.1_Missense_Mutation_p.L352I|RAI14_ENST00000428746.2_Missense_Mutation_p.L359I|RAI14_ENST00000515799.1_Missense_Mutation_p.L362I|RAI14_ENST00000506376.1_Missense_Mutation_p.L351I NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 359 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) AGTTGCTTCCCTTACCTTACA 0.368 6 238 --- --- --- --- PRLR 5618 broad.mit.edu 37 5 35065849 35065849 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:35065849G>T ENST00000382002.5 - 10 1637 c.1211C>A c.(1210-1212)cCc>cAc p.P404H PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P303H|PRLR_ENST00000511486.1_Missense_Mutation_p.P303H|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 404 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATGAAAATAGGGGATTTTGCC 0.493 6 251 --- --- --- --- NADK2 133686 broad.mit.edu 37 5 36217949 36217949 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:36217949C>A ENST00000397338.1 - 6 414 c.193G>T c.(193-195)Ggg>Tgg p.G65W NADK2_ENST00000282512.3_Missense_Mutation_p.G65W|NADK2_ENST00000514504.1_Missense_Mutation_p.G228W|NADK2_ENST00000506945.1_Missense_Mutation_p.G65W|NADK2_ENST00000381937.4_Missense_Mutation_p.G228W NAD kinase 2, mitochondrial ATGCCAGTCCCTTCAAGGTAT 0.388 5 178 --- --- --- --- EGFLAM 133584 broad.mit.edu 37 5 38427338 38427338 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:38427338G>T ENST00000322350.5 + 14 2384 c.2038G>T c.(2038-2040)Ggg>Tgg p.G680W EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446W|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680W|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46W NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 680 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CTGTGGCTCTGGGACCGGTGT 0.502 6 313 --- --- --- --- LIFR 3977 broad.mit.edu 37 5 38481998 38481998 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:38481998C>A ENST00000263409.4 - 20 3155 c.2993G>T c.(2992-2994)gGg>gTg p.G998V LIFR_ENST00000453190.2_Missense_Mutation_p.G998V NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 998 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATAGCCTGCCCCTCCTACAGG 0.458 T PLAG1 salivary adenoma 6 214 --- --- --- --- MROH2B 133558 broad.mit.edu 37 5 41061824 41061824 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:41061824G>T ENST00000399564.4 - 6 913 c.463C>A c.(463-465)Ctt>Att p.L155I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AATTTCTCAAGGGCTGCATTT 0.398 4 75 --- --- --- --- C6 729 broad.mit.edu 37 5 41195902 41195902 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:41195902C>A ENST00000263413.3 - 5 843 c.579G>T c.(577-579)atG>atT p.M193I C6_ENST00000337836.5_Missense_Mutation_p.M193I NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 193 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACCCATTGCCCATCAACTGTA 0.433 6 256 --- --- --- --- NNT 23530 broad.mit.edu 37 5 43649338 43649338 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:43649338G>T ENST00000264663.5 + 11 1755 c.1534G>T c.(1534-1536)Ggg>Tgg p.G512W NNT_ENST00000344920.4_Missense_Mutation_p.G512W|NNT_ENST00000512996.2_Missense_Mutation_p.G381W NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 512 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGGCATTGTGGGGTATCATAC 0.502 7 442 --- --- --- --- ITGA1 3672 broad.mit.edu 37 5 52183671 52183671 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:52183671G>T ENST00000282588.6 + 8 1256 c.798G>T c.(796-798)cgG>cgT p.R266R NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 266 VWFA. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CGGAAGCCCGGGGTGCCCGAA 0.398 5 131 --- --- --- --- TMEM171 134285 broad.mit.edu 37 5 72419699 72419699 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:72419699G>T ENST00000454765.2 + 2 972 c.499G>T c.(499-501)Ggg>Tgg p.G167W TMEM171_ENST00000287773.5_Missense_Mutation_p.G167W Q8WVE6 TM171_HUMAN transmembrane protein 171 167 integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) GCAGATCATGGGGCCCTTGAT 0.547 5 179 --- --- --- --- TMEM171 134285 broad.mit.edu 37 5 72427549 72427549 + Missense_Mutation SNP C C A rs17853415 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:72427549C>A ENST00000454765.2 + 4 1440 c.967C>A c.(967-969)Cca>Aca p.P323T TMEM171_ENST00000287773.5_Missense_Mutation_p.P322T Q8WVE6 TM171_HUMAN transmembrane protein 171 323 P -> S (in Ref. 2; AAH35310). integral to membrane endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1) 15 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) TGAGCCTTCCCCACCGTAAAC 0.353 6 329 --- --- --- --- CRHBP 1393 broad.mit.edu 37 5 76259235 76259235 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:76259235C>A ENST00000274368.4 + 6 1183 c.761C>A c.(760-762)cCt>cAt p.P254H CRHBP_ENST00000514258.1_3'UTR NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 254 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) GGATTGGACCCTTCCAAGATG 0.453 7 408 --- --- --- --- AGGF1 55109 broad.mit.edu 37 5 76349809 76349809 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:76349809C>A ENST00000312916.7 + 10 1869 c.1487C>A c.(1486-1488)cCt>cAt p.P496H NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 496 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AAATGTGACCCTTACGTACTT 0.393 6 232 --- --- --- --- WDR41 55255 broad.mit.edu 37 5 76734163 76734163 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:76734163C>A ENST00000296679.4 - 10 1281 c.906G>T c.(904-906)agG>agT p.R302S WDR41_ENST00000414719.2_Missense_Mutation_p.R48S|WDR41_ENST00000507029.1_Missense_Mutation_p.R247S NM_018268.2 NP_060738.2 Q9HAD4 WDR41_HUMAN WD repeat domain 41 302 NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5) 14 all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059) OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40) CGTATAAACCCCTTCCAACTG 0.458 8 207 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82833038 82833038 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:82833038C>A ENST00000265077.3 + 8 4781 c.4216C>A c.(4216-4218)Cca>Aca p.P1406T VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P419T|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1406 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GACAACCACCCCATCTGTGCA 0.458 4 74 --- --- --- --- FER 2241 broad.mit.edu 37 5 108521967 108521967 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:108521967G>T ENST00000281092.4 + 19 2654 c.2270G>T c.(2269-2271)gGg>gTg p.G757V FER_ENST00000438717.2_Missense_Mutation_p.G582V NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 757 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TTCAGCTTAGGGGTTTGTCCG 0.488 6 222 --- --- --- --- FER 2241 broad.mit.edu 37 5 108523221 108523221 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:108523221C>A ENST00000281092.4 + 20 2798 c.2414C>A c.(2413-2415)cCt>cAt p.P805H FER_ENST00000438717.2_Missense_Mutation_p.P630H NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 805 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GAAAATCGCCCTAAGTTCAGT 0.463 4 134 --- --- --- --- MAN2A1 4124 broad.mit.edu 37 5 109106195 109106195 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:109106195C>A ENST00000261483.4 + 7 2201 c.1149C>A c.(1147-1149)ccC>ccA p.P383P NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 383 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TTGGTTGTCCCTGGGGAGTCC 0.433 6 215 --- --- --- --- DCP2 167227 broad.mit.edu 37 5 112349073 112349073 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:112349073G>T ENST00000389063.2 + 11 1353 c.1155G>T c.(1153-1155)gaG>gaT p.E385D DCP2_ENST00000515408.1_Missense_Mutation_p.E350D|DCP2_ENST00000543319.1_Missense_Mutation_p.E174D NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 385 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) AACATGCTGAGGGACAGCCCG 0.393 6 280 --- --- --- --- FEM1C 56929 broad.mit.edu 37 5 114860425 114860425 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:114860425C>A ENST00000274457.3 - 3 1995 c.1434G>T c.(1432-1434)agG>agT p.R478S NM_020177.2 NP_064562.1 Q96JP0 FEM1C_HUMAN fem-1 homolog c (C. elegans) 478 cytoplasm breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 18 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) TATTCTTTCCCCTTGGATGCA 0.393 7 469 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126734475 126734475 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:126734475C>A ENST00000274473.6 + 8 1034 c.767C>A c.(766-768)cCt>cAt p.P256H MEGF10_ENST00000503335.2_Missense_Mutation_p.P256H|MEGF10_ENST00000508365.1_Missense_Mutation_p.P256H|MEGF10_ENST00000418761.2_Missense_Mutation_p.P256H NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 256 EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TGCTCTTGCCCTTCTGGCTGG 0.522 5 123 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127670475 127670475 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:127670475C>A ENST00000508053.1 - 37 5009 c.4035G>T c.(4033-4035)aaG>aaT p.K1345N FBN2_ENST00000508989.1_Missense_Mutation_p.K1312N|FBN2_ENST00000507835.1_Missense_Mutation_p.K195N|FBN2_ENST00000262464.4_Missense_Mutation_p.K1345N P35556 FBN2_HUMAN fibrillin 2 1345 EGF-like 21; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGAAGGATCCCTTTGTGTTCT 0.388 7 186 --- --- --- --- ADAMTS19 171019 broad.mit.edu 37 5 128994403 128994403 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:128994403G>T ENST00000274487.4 + 15 2525 c.2380G>T c.(2380-2382)Ggg>Tgg p.G794W CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 794 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GATCATTAAAGGGGATTTTAA 0.343 6 337 --- --- --- --- GDF9 2661 broad.mit.edu 37 5 132200139 132200139 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:132200139C>A ENST00000378673.2 - 2 953 c.87G>T c.(85-87)ggG>ggT p.G29G GDF9_ENST00000296875.2_Silent_p.G29G|GDF9_ENST00000464378.1_Intron O60383 GDF9_HUMAN growth differentiation factor 9 29 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGCTTCTCCCCCAGAAGCCT 0.517 5 149 --- --- --- --- PKD2L2 27039 broad.mit.edu 37 5 137235236 137235236 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:137235236C>A ENST00000508638.1 + 5 611 c.556C>A c.(556-558)Cct>Act p.P186T PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186T|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186T NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 186 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TACCAACTCCCCTTGGCACTG 0.353 6 238 --- --- --- --- ETF1 2107 broad.mit.edu 37 5 137844470 137844470 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:137844470G>T ENST00000499810.2 - 10 1468 c.1020C>A c.(1018-1020)ccC>ccA p.P340P ETF1_ENST00000360541.5_Silent_p.P373P|ETF1_ENST00000503014.1_Silent_p.P359P NM_001256302.1|NM_001282185.1 NP_001243231.1|NP_001269114.1 P62495 ERF1_HUMAN eukaryotic translation termination factor 1 373 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATTCCAACAGGGGCATGCTCT 0.413 6 288 --- --- --- --- PCDHA3 56145 broad.mit.edu 37 5 140180997 140180997 + Missense_Mutation SNP G G T rs149543626 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:140180997G>T ENST00000522353.2 + 1 215 c.215G>T c.(214-216)gGg>gTg p.G72V PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G72V|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAGACACGGGGACCTTCTG 0.627 5 186 --- --- --- --- PCDHB4 56131 broad.mit.edu 37 5 140502609 140502609 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:140502609C>A ENST00000194152.1 + 1 1029 c.1029C>A c.(1027-1029)ccC>ccA p.P343P NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 343 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGACAATCCCCCAGAACTTA 0.443 8 402 --- --- --- --- PCDHB8 56128 broad.mit.edu 37 5 140558651 140558651 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:140558651C>A ENST00000239444.2 + 1 1281 c.1036C>A c.(1036-1038)Cca>Aca p.P346T NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 346 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGACCATGCCCCAGAAGTTAC 0.448 11 792 --- --- --- --- PCDHGA3 56112 broad.mit.edu 37 5 140723735 140723735 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:140723735G>T ENST00000253812.6 + 1 135 c.135G>T c.(133-135)gtG>gtT p.V45V PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCCTTCGTGGGCAACATCG 0.617 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 329 --- --- --- --- PCDHGA6 56109 broad.mit.edu 37 5 140755086 140755086 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:140755086C>A ENST00000517434.1 + 1 1436 c.1436C>A c.(1435-1437)cCt>cAt p.P479H PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACTGGACCCTGACGTGGAC 0.582 6 300 --- --- --- --- PCDHGA8 9708 broad.mit.edu 37 5 140773098 140773098 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:140773098C>A ENST00000398604.2 + 1 718 c.718C>A c.(718-720)Ccg>Acg p.P240T PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAATGCCCCGGTTTTTCC 0.582 5 162 --- --- --- --- TCERG1 10915 broad.mit.edu 37 5 145843328 145843328 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:145843328C>A ENST00000296702.5 + 5 1145 c.1107C>A c.(1105-1107)ccC>ccA p.P369P TCERG1_ENST00000394421.2_Silent_p.P369P NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 369 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCGTGTTCCCCTTCCTGGCA 0.448 6 372 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 145969654 145969654 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:145969654C>A ENST00000394413.3 - 9 1758 c.1188G>T c.(1186-1188)ggG>ggT p.G396G PPP2R2B_ENST00000453001.1_Silent_p.G396G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394411.4_Silent_p.G396G|PPP2R2B_ENST00000336640.6_Silent_p.G399G|PPP2R2B_ENST00000394410.2_Silent_p.G385G|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000356826.3_Silent_p.G396G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|CTB-99A3.1_ENST00000512730.1_RNA Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 396 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGCTTGCCCCCCACACACA 0.498 7 374 --- --- --- --- DPYSL3 1809 broad.mit.edu 37 5 146795341 146795341 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:146795341G>T ENST00000343218.5 - 4 948 c.751C>A c.(751-753)Ctg>Atg p.L251M DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.L137M NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 137 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACATGCAGGGCATAGTCA 0.552 6 346 --- --- --- --- ARHGEF37 389337 broad.mit.edu 37 5 149011707 149011707 + Missense_Mutation SNP G G C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:149011707G>C ENST00000333677.6 + 13 2144 c.1981G>C c.(1981-1983)Gcc>Ccc p.A661P NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 661 SH3 2. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.A661P(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TGGCTTCTTGGCCAGGGCTCG 0.592 3 93 --- --- --- --- CSF1R 1436 broad.mit.edu 37 5 149447876 149447876 + Missense_Mutation SNP G G T rs139203165 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:149447876G>T ENST00000286301.3 - 11 1819 c.1528C>A c.(1528-1530)Ccg>Acg p.P510T NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 510 cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) AACTCATCCGGGGGATGCGTG 0.597 4 83 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149581948 149581948 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:149581948G>T ENST00000230671.2 + 7 1268 c.897G>T c.(895-897)ctG>ctT p.L299L SLC6A7_ENST00000524041.1_Silent_p.L299L NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 299 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TCTATTCCCTGGGTGTGGGCT 0.572 5 175 --- --- --- --- CD74 972 broad.mit.edu 37 5 149784707 149784707 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:149784707C>A ENST00000353334.6 - 5 657 c.478G>T c.(478-480)Ggg>Tgg p.G160W CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.G160W|CD74_ENST00000524315.1_Intron NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 160 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGAAGCTCCCCTTCAGTGGC 0.547 T ROS1 NSCLC 5 161 --- --- --- --- ZNF300 91975 broad.mit.edu 37 5 150276299 150276299 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:150276299C>A ENST00000446148.2 - 7 977 c.550G>T c.(550-552)Ggg>Tgg p.G184W ZNF300_ENST00000418587.2_Missense_Mutation_p.G132W|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G168W|ZNF300_ENST00000394226.2_Missense_Mutation_p.G168W NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATATTTTCCCCAGTGGATTA 0.348 8 305 --- --- --- --- G3BP1 10146 broad.mit.edu 37 5 151166205 151166205 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:151166205C>A ENST00000543466.1 + 0 186 G3BP1_ENST00000394123.3_Silent_p.P8P|G3BP1_ENST00000356245.3_Silent_p.P8P Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) AGCCTAGTCCCCTGCTGGTCG 0.478 7 244 --- --- --- --- ATP10B 23120 broad.mit.edu 37 5 160114833 160114833 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:160114833G>T ENST00000327245.5 - 5 1095 c.249C>A c.(247-249)ccC>ccA p.P83P CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 83 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAGATTCCGGGGCAGGAAGG 0.458 6 252 --- --- --- --- GABRB2 2561 broad.mit.edu 37 5 160758068 160758068 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:160758068G>T ENST00000274547.2 - 9 1116 c.899C>A c.(898-900)cCc>cAc p.P300H GABRB2_ENST00000517901.1_Missense_Mutation_p.P237H|GABRB2_ENST00000393959.1_Missense_Mutation_p.P300H|GABRB2_ENST00000353437.6_Missense_Mutation_p.P300H|GABRB2_ENST00000517547.1_Missense_Mutation_p.P140H|GABRB2_ENST00000520240.1_Missense_Mutation_p.P300H NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 300 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CTTCACATAGGGGATTTTAGG 0.448 7 337 --- --- --- --- STK10 6793 broad.mit.edu 37 5 171471911 171471911 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:171471911G>T ENST00000176763.5 - 19 3225 c.2882C>A c.(2881-2883)cCc>cAc p.P961H NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 961 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAACTGTAGGGGAAGAACTT 0.587 5 136 --- --- --- --- HK3 3101 broad.mit.edu 37 5 176309037 176309037 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:176309037C>A ENST00000292432.5 - 16 2236 c.2145G>T c.(2143-2145)tgG>tgT p.W715C NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 715 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAAAGGCGCCCCACTCCATGT 0.632 5 133 --- --- --- --- UIMC1 51720 broad.mit.edu 37 5 176332480 176332480 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:176332480C>A ENST00000377219.2 - 15 2132 c.1966G>T c.(1966-1968)Ggg>Tgg p.G656W UIMC1_ENST00000511320.1_Missense_Mutation_p.G655W|UIMC1_ENST00000377227.4_Missense_Mutation_p.G655W|UIMC1_ENST00000506128.1_Missense_Mutation_p.G489W NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 655 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTTCCATCCCTGGTGAAGGC 0.433 4 85 --- --- --- --- COL23A1 91522 broad.mit.edu 37 5 177715351 177715351 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:177715351C>A ENST00000390654.3 - 5 772 c.415G>T c.(415-417)Ggg>Tgg p.G139W COL23A1_ENST00000407622.1_Intron NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 139 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCTGATTGCCCCTGTGGTAAT 0.443 6 213 --- --- --- --- MAML1 9794 broad.mit.edu 37 5 179193269 179193269 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:179193269C>A ENST00000292599.3 + 2 1521 c.1258C>A c.(1258-1260)Ccg>Acg p.P420T MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 420 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGGCCACCCCGGCACCAGC 0.657 5 170 --- --- --- --- MAPK9 5601 broad.mit.edu 37 5 179676014 179676014 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:179676014C>A ENST00000452135.2 - 6 873 c.575G>T c.(574-576)cGg>cTg p.R192L MAPK9_ENST00000343111.6_Missense_Mutation_p.R192L|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192L|MAPK9_ENST00000347470.4_Missense_Mutation_p.R192L|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192L P45984 MK09_HUMAN mitogen-activated protein kinase 9 192 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding p.R192L(4) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCGGGCGCCCGGTAGTACCG 0.552 6 515 --- --- --- --- TRIM52 84851 broad.mit.edu 37 5 180687287 180687287 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr5:180687287G>T ENST00000327767.4 - 1 832 c.528C>A c.(526-528)ccC>ccA p.P176P CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR NM_032765.2 NP_116154.1 Q96A61 TRI52_HUMAN tripartite motif containing 52 176 intracellular zinc ion binding endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) GCCCTGGAAGGGGCAAGGAAG 0.527 8 259 --- --- --- --- TFAP2A 7020 broad.mit.edu 37 6 10400801 10400801 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:10400801C>A ENST00000379613.3 - 6 1167 c.911G>T c.(910-912)aGg>aTg p.R304M TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R296M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R302M|TFAP2A_ENST00000482890.1_Missense_Mutation_p.R302M|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R298M P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 302 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) CCCAAAGTCCCTGGCTAGGTG 0.527 5 140 --- --- --- --- ERVFRD-1 405754 broad.mit.edu 37 6 11105026 11105026 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:11105026G>T ENST00000472091.1 - 2 893 c.518C>A c.(517-519)cCc>cAc p.P173H ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P173H|SMIM13_ENST00000416247.2_Intron NM_207582.2 NP_997465.1 P60508 EFRD1_HUMAN 173 integral to membrane|plasma membrane|virion breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1) 15 TGGAGGTTTGGGGAATCTTGG 0.443 9 662 --- --- --- --- TBC1D7 51256 broad.mit.edu 37 6 13316809 13316809 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:13316809G>T ENST00000607658.1 - 4 582 c.432C>A c.(430-432)ccC>ccA p.P144P TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Silent_p.P144P|TBC1D7_ENST00000379300.3_Silent_p.P171P|TBC1D7_ENST00000356436.4_Silent_p.P171P|TBC1D7_ENST00000607532.1_5'UTR Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 171 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) TCACCAACTGGGGCAAGGAAT 0.478 7 256 --- --- --- --- BTN2A1 11120 broad.mit.edu 37 6 26465542 26465542 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:26465542G>T ENST00000429381.1 + 5 1054 c.842G>T c.(841-843)gGg>gTg p.G281V BTN2A1_ENST00000469185.1_Missense_Mutation_p.G281V|BTN2A1_ENST00000312541.5_Missense_Mutation_p.G281V|BTN2A1_ENST00000541522.1_Missense_Mutation_p.G220V Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 281 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 ATTCTGTCAGGGGAAAAGGAG 0.403 6 215 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29454728 29454728 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:29454728C>A ENST00000377127.3 - 1 1010 c.952G>T c.(952-954)Ggg>Tgg p.G318W NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 318 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 CTGAGGCTCCCCACAAAGAAA 0.443 6 271 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694719 29694719 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:29694719G>T ENST00000440587.2 + 6 1068 c.709G>T c.(709-711)Ggg>Tgg p.G237W HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366W P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 ATTTCTCCTGGGGGTGCTCTT 0.493 6 285 --- --- --- --- TRIM10 10107 broad.mit.edu 37 6 30128473 30128473 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:30128473G>T ENST00000449742.2 - 1 238 c.163C>A c.(163-165)Cct>Act p.P55T TRIM10_ENST00000376704.3_Missense_Mutation_p.P55T NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 55 cytoplasm zinc ion binding ovary(1) 1 GGGCAAGTAGGGGACTCCTCC 0.617 9 318 --- --- --- --- MDC1 9656 broad.mit.edu 37 6 30670419 30670419 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:30670419G>T ENST00000376406.3 - 14 6660 c.6013C>A c.(6013-6015)Cct>Act p.P2005T MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 2005 BRCT 2.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGGACTCCAGGGGTCACATAG 0.493 Other conserved DNA damage response genes 6 188 --- --- --- --- SKIV2L 6499 broad.mit.edu 37 6 31927105 31927105 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:31927105C>A ENST00000375394.2 + 2 167 c.54C>A c.(52-54)ccC>ccA p.P18P SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 18 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TGGACCTACCCCTTCGGGCCG 0.567 8 577 --- --- --- --- SKIV2L 6499 broad.mit.edu 37 6 31930234 31930234 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:31930234C>A ENST00000375394.2 + 11 1196 c.1083C>A c.(1081-1083)ccC>ccA p.P361P SKIV2L_ENST00000544581.1_Silent_p.P168P NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 361 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 ACACTTCGCCCATCAAGGCCC 0.597 5 125 --- --- --- --- HLA-DMB 3109 broad.mit.edu 37 6 32905075 32905075 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:32905075C>A ENST00000416244.2 - 3 690 c.496G>T c.(496-498)Gcc>Tcc p.A166S HLA-DMB_ENST00000418107.2_Missense_Mutation_p.A166S P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 166 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex p.A166S(4) breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 TTGGGCTGGGCAGTCTTGTGC 0.562 5 200 --- --- --- --- RXRB 6257 broad.mit.edu 37 6 33164173 33164173 + Missense_Mutation SNP C C A rs112185934 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:33164173C>A ENST00000413614.2 - 4 962 c.743G>T c.(742-744)gGg>gTg p.G248V RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron|RXRB_ENST00000544186.1_Intron P28702 RXRB_HUMAN retinoid X receptor, beta 134 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCCCCCAACCCCCATCACGAA 0.587 5 157 --- --- --- --- B3GALT4 8705 broad.mit.edu 37 6 33246264 33246264 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:33246264C>A ENST00000451237.1 + 1 1348 c.1068C>A c.(1066-1068)ccC>ccA p.P356P NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 356 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 GGACTGCGCCCTTTTGCTCCT 0.612 6 258 --- --- --- --- KIFC1 3833 broad.mit.edu 37 6 33374079 33374079 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:33374079G>T ENST00000428849.2 + 8 2093 c.1643G>T c.(1642-1644)gGg>gTg p.G548V NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 548 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CAGATTTCTGGGGAGCACTCC 0.657 7 255 --- --- --- --- ANKS1A 23294 broad.mit.edu 37 6 34985545 34985545 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:34985545C>A ENST00000360359.3 + 11 1857 c.1719C>A c.(1717-1719)ccC>ccA p.P573P ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 573 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CAGGCCTGCCCACCACCAACA 0.647 5 113 --- --- --- --- SLC26A8 116369 broad.mit.edu 37 6 35980014 35980014 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:35980014G>T ENST00000490799.1 - 3 677 c.324C>A c.(322-324)ccC>ccA p.P108P SLC26A8_ENST00000394602.2_Silent_p.P108P|SLC26A8_ENST00000355574.2_Silent_p.P108P NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 108 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CCTTACCTTGGGGAACTTGCA 0.423 9 548 --- --- --- --- C6orf222 389384 broad.mit.edu 37 6 36297859 36297859 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:36297859C>A ENST00000437635.2 - 2 786 c.609G>T c.(607-609)agG>agT p.R203S NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 203 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 TCCGCTCACCCCTGCGAGCTG 0.647 6 107 --- --- --- --- ETV7 51513 broad.mit.edu 37 6 36334671 36334671 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:36334671C>A ENST00000373738.1 - 6 1569 c.724G>T c.(724-726)Ggg>Tgg p.G242W ETV7_ENST00000339796.5_Missense_Mutation_p.G297W|ETV7_ENST00000340181.4_Missense_Mutation_p.G297W|ETV7_ENST00000373737.4_Missense_Mutation_p.G220W|ETV7_ENST00000538992.1_Missense_Mutation_p.G146W NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 297 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 AGTTTCTGCCCCGGTTCCTTC 0.552 9 588 --- --- --- --- RNF8 9025 broad.mit.edu 37 6 37336306 37336306 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:37336306G>T ENST00000373479.4 + 3 480 c.287G>T c.(286-288)aGg>aTg p.R96M RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R96M NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 96 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 GAACCTTTAAGGGTCTATTCC 0.413 6 367 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41617368 41617368 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:41617368G>T ENST00000373050.4 + 3 275 c.88G>T c.(88-90)Ggg>Tgg p.G30W Q99750 MDFI_HUMAN MyoD family inhibitor 91 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) CCAGCCTCAGGGGAACCCCTT 0.632 8 442 --- --- --- --- TFEB 7942 broad.mit.edu 37 6 41703948 41703948 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:41703948C>A ENST00000358871.2 - 0 49 TFEB_ENST00000403298.4_De_novo_Start_OutOfFrame NM_001167827.1 NP_001161299.2 P19484 TFEB_HUMAN transcription factor EB 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) GTCACCTTCCCTTGTTGGAAG 0.547 T ALPHA renal (childhood epithelioid) 7 410 --- --- --- --- CUL9 23113 broad.mit.edu 37 6 43166385 43166385 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:43166385C>A ENST00000252050.4 + 12 2926 c.2842C>A c.(2842-2844)Cct>Act p.P948T CUL9_ENST00000354495.3_Missense_Mutation_p.P838T|CUL9_ENST00000372647.2_Missense_Mutation_p.P948T NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 948 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGATGGGTCCCCTGAGCTACT 0.577 7 331 --- --- --- --- ABCC10 89845 broad.mit.edu 37 6 43416688 43416688 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:43416688C>A ENST00000244533.3 + 17 4304 c.3945C>A c.(3943-3945)ccC>ccA p.P1315P ABCC10_ENST00000372530.4_Silent_p.P1343P NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1343 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ACCTGGACCCCCAGGGCCTAC 0.562 4 76 --- --- --- --- XPO5 57510 broad.mit.edu 37 6 43538333 43538333 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:43538333C>A ENST00000265351.7 - 5 737 c.527G>T c.(526-528)aGg>aTg p.R176M NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 176 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) CTGGATGTCCCTTCTTCTTTG 0.413 6 381 --- --- --- --- SLC25A27 9481 broad.mit.edu 37 6 46623673 46623673 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:46623673C>A ENST00000371347.5 + 2 452 c.200C>A c.(199-201)cCc>cAc p.P67H SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67H|SLC25A27_ENST00000452689.2_5'UTR NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 67 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) GAATCTGCCCCCTATAGGGGA 0.507 6 188 --- --- --- --- PKHD1 5314 broad.mit.edu 37 6 51609253 51609253 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:51609253C>A ENST00000371117.3 - 60 10361 c.10086G>T c.(10084-10086)ctG>ctT p.L3362L PKHD1_ENST00000340994.4_Silent_p.L3362L NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3362 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAGGCAGACCCAGGGCTCTCC 0.448 6 258 --- --- --- --- PKHD1 5314 broad.mit.edu 37 6 51777278 51777278 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:51777278C>A ENST00000371117.3 - 38 6493 c.6218G>T c.(6217-6219)gGg>gTg p.G2073V PKHD1_ENST00000340994.4_Missense_Mutation_p.G2073V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2073 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AACTTCATCCCCAGGGTTCCA 0.473 6 294 --- --- --- --- MLIP 90523 broad.mit.edu 37 6 53989461 53989461 + Missense_Mutation SNP G G T rs143336016 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:53989461G>T ENST00000514921.1 + 3 523 c.410G>T c.(409-411)gGg>gTg p.G137V MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.G75V|MLIP_ENST00000358276.5_Missense_Mutation_p.G131V|MLIP_ENST00000509997.1_Missense_Mutation_p.G85V|MLIP_ENST00000274897.5_Missense_Mutation_p.G137V|MLIP_ENST00000370877.2_Missense_Mutation_p.G85V|MLIP_ENST00000502396.1_Missense_Mutation_p.G148V NM_001281746.1 NP_001268675.1 Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 137 nuclear envelope|PML body protein binding p.G137V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GACTCCGAAGGGGAAGATGAG 0.502 9 197 --- --- --- --- DST 667 broad.mit.edu 37 6 56481294 56481294 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:56481294C>A ENST00000370765.6 - 24 7078 c.6971G>T c.(6970-6972)gGg>gTg p.G2324V DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1657 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) GTTCCTCTCCCCAAATGGAAA 0.383 6 251 --- --- --- --- BAI3 577 broad.mit.edu 37 6 70034913 70034913 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:70034913G>T ENST00000370598.1 + 21 3785 c.2964G>T c.(2962-2964)tgG>tgT p.W988C BAI3_ENST00000238918.8_Splice_Site_p.W194C NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 988 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCCTTGGATGGGGTAAGCATA 0.408 7 214 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75884838 75884838 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:75884838C>A ENST00000322507.8 - 13 2935 c.2626G>T c.(2626-2628)Ggg>Tgg p.G876W COL12A1_ENST00000416123.2_Missense_Mutation_p.G876W|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G876W NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 876 Fibronectin type-III 5. 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 TATTGTGTCCCTTCCTTCAAT 0.498 6 347 --- --- --- --- FILIP1 27145 broad.mit.edu 37 6 76124424 76124424 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:76124424C>A ENST00000393004.2 - 2 486 c.265G>T c.(265-267)Ggg>Tgg p.G89W FILIP1_ENST00000237172.7_Missense_Mutation_p.G89W Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 89 ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589). breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TGCAACTCCCCTTCCATTATA 0.383 7 489 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86324701 86324701 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:86324701C>A ENST00000355238.6 - 11 1851 c.1645G>T c.(1645-1647)Ggg>Tgg p.G549W SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G549W|RP11-321N4.5_ENST00000503906.1_Silent_p.A84A NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 549 8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) CCACGTACCCCGCGGCCTCTT 0.602 6 298 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87943065 87943065 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:87943065G>T ENST00000369577.3 + 5 604 c.561G>T c.(559-561)gaG>gaT p.E187D ZNF292_ENST00000339907.4_Missense_Mutation_p.E182D NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAGCTTTTGAGGGTCCCATCT 0.303 4 103 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90424370 90424370 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:90424370G>T ENST00000369393.3 - 46 7076 c.6961C>A c.(6961-6963)Cca>Aca p.P2321T MDN1_ENST00000428876.1_Missense_Mutation_p.P2321T Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2321 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGGTTGTCTGGGGTGCTTGCA 0.493 5 168 --- --- --- --- SIM1 6492 broad.mit.edu 37 6 100841442 100841442 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:100841442G>T ENST00000369208.3 - 11 2273 c.1491C>A c.(1489-1491)ccC>ccA p.P497P SIM1_ENST00000262901.4_Silent_p.P497P P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 497 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCTTTGTCAGGGGCAAGGCTG 0.612 6 155 --- --- --- --- ARMC2 84071 broad.mit.edu 37 6 109215669 109215669 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:109215669G>T ENST00000392644.4 + 6 839 c.e6-1 ARMC2_ENST00000368972.3_Splice_Site NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) ATTCCTCCTAGGGACCAGGGG 0.453 5 150 --- --- --- --- MICAL1 64780 broad.mit.edu 37 6 109768401 109768401 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:109768401C>A ENST00000368952.4 - 17 2449 c.2159G>T c.(2158-2160)gGg>gTg p.G720V MICAL1_ENST00000358577.3_Missense_Mutation_p.G615V|MICAL1_ENST00000358807.3_Missense_Mutation_p.G701V Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 701 LIM zinc-binding. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) GAGGTGTTCCCCACAAAGTGC 0.612 5 123 --- --- --- --- SLC22A16 85413 broad.mit.edu 37 6 110746101 110746101 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:110746101G>T ENST00000368919.3 - 8 1775 c.1709C>A c.(1708-1710)cCc>cAc p.P570H SLC22A16_ENST00000330550.4_Missense_Mutation_p.P536H NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 570 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AGAATCCCTGGGGGTAATCGC 0.418 6 302 --- --- --- --- SLC16A10 117247 broad.mit.edu 37 6 111540220 111540220 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:111540220C>A ENST00000368850.3 + 4 834 c.348C>A c.(346-348)ccC>ccA p.P116P SLC16A10_ENST00000368851.5_Silent_p.P430P Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 430 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TGTCTATACCCATGACTGTTG 0.393 4 123 --- --- --- --- COL10A1 1300 broad.mit.edu 37 6 116446572 116446572 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:116446572G>T ENST00000327673.4 - 1 491 c.84C>A c.(82-84)ccC>ccA p.P28P NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.P28P Q03692 COAA1_HUMAN collagen, type X, alpha 1 28 Nonhelical region (NC2). skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) TTATGCCTGTGGGCATTTGGT 0.393 7 499 --- --- --- --- FAM26E 254228 broad.mit.edu 37 6 116832984 116832984 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:116832984C>A ENST00000368599.3 + 1 176 c.125C>A c.(124-126)cCc>cAc p.P42H TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 42 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) TTTAAGTGCCCCTGCAGCACT 0.468 6 224 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129785457 129785457 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:129785457G>T ENST00000421865.2 + 50 7064 c.7015G>T c.(7015-7017)Ggg>Tgg p.G2339W NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2339 cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGATAGTGAGGGGACTATTCA 0.418 8 272 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129837448 129837448 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:129837448C>A ENST00000421865.2 + 65 9374 c.9325C>A c.(9325-9327)Ctg>Atg p.L3109M NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 3109 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGCCAAGGCCCTGGAACTGAG 0.468 4 92 --- --- --- --- CTAGE9 643854 broad.mit.edu 37 6 132030025 132030025 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:132030025C>A ENST00000314099.8 - 1 2181 c.2133G>T c.(2131-2133)agG>agT p.R711S ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 711 Pro-rich. integral to membrane endometrium(1)|lung(1) 2 TGAATGGGCCCCTTGTATCCA 0.522 8 288 --- --- --- --- ENPP3 5169 broad.mit.edu 37 6 132047228 132047228 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:132047228G>T ENST00000414305.1 + 21 2169 c.1841G>T c.(1840-1842)aGg>aTg p.R614M ENPP3_ENST00000357639.3_Missense_Mutation_p.R614M|ENPP3_ENST00000358229.5_Missense_Mutation_p.R614M O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 614 Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GGGAGGCCTAGGGTACTGCAG 0.388 5 216 --- --- --- --- KIAA1244 57221 broad.mit.edu 37 6 138583871 138583871 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:138583871G>T ENST00000251691.4 + 12 1417 c.1251G>T c.(1249-1251)aaG>aaT p.K417N NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 417 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CATGCATCAAGGGTGGCATCG 0.488 5 199 --- --- --- --- ADGRG6 57211 broad.mit.edu 37 6 142736944 142736944 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:142736944G>T ENST00000230173.6 + 20 3157 c.2681G>T c.(2680-2682)aGg>aTg p.R894M GPR126_ENST00000367609.3_Missense_Mutation_p.R894M|GPR126_ENST00000367608.2_Missense_Mutation_p.R866M|GPR126_ENST00000296932.8_Missense_Mutation_p.R866M NM_020455.5 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 894 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) AAATTGCGAAGGGATTATCCC 0.393 5 203 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146276179 146276179 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:146276179G>T ENST00000367503.3 - 2 678 c.280C>A c.(280-282)Cct>Act p.P94T SHPRH_ENST00000438092.2_Missense_Mutation_p.P94T|SHPRH_ENST00000275233.7_Missense_Mutation_p.P94T|SHPRH_ENST00000367505.2_Missense_Mutation_p.P94T NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 94 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) ACAGACAAAGGGGAAAAAATA 0.363 6 311 --- --- --- --- PLEKHG1 57480 broad.mit.edu 37 6 151161652 151161652 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:151161652C>A ENST00000367328.1 + 17 4090 c.3778C>A c.(3778-3780)Caa>Aaa p.Q1260K PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1260K NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1260 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CTTAAATGCCCAAATTGCAAC 0.403 5 174 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152708417 152708417 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:152708417G>T ENST00000367255.5 - 54 8878 c.8277C>A c.(8275-8277)ccC>ccA p.P2759P SYNE1_ENST00000423061.1_Silent_p.P2766P|SYNE1_ENST00000448038.1_Silent_p.P2766P|SYNE1_ENST00000341594.5_Silent_p.P2798P|SYNE1_ENST00000265368.4_Silent_p.P2759P NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2759 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGGTTGTAAGGGATGTTCTA 0.478 HNSCC(10;0.0054) 6 239 --- --- --- --- LPAL2 80350 broad.mit.edu 37 6 160905230 160905230 + RNA SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:160905230G>T ENST00000335388.5 - 0 897 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GTAACACCAAGGGCCTTCCAC 0.498 4 82 --- --- --- --- FAM120B 84498 broad.mit.edu 37 6 170627813 170627813 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr6:170627813C>A ENST00000476287.1 + 2 1443 c.1335C>A c.(1333-1335)ccC>ccA p.P445P FAM120B_ENST00000537664.1_Silent_p.P468P|FAM120B_ENST00000540480.1_Silent_p.P457P|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 445 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) ACTCTGAACCCAGGCAAGAAG 0.498 7 568 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2985561 2985561 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:2985561C>A ENST00000396946.4 - 4 653 c.250G>T c.(250-252)Ggg>Tgg p.G84W AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 84 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCCCTTTGCCCCTTGGTATGT 0.493 Mis DLBCL 6 386 --- --- --- --- COL28A1 340267 broad.mit.edu 37 7 7557428 7557428 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:7557428C>A ENST00000399429.3 - 7 994 c.854G>T c.(853-855)gGg>gTg p.G285V NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 285 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TGTACATACCCCTGGACCTCT 0.433 7 349 --- --- --- --- C7orf31 136895 broad.mit.edu 37 7 25194743 25194743 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:25194743G>T ENST00000409280.1 - 6 790 c.482C>A c.(481-483)cCc>cAc p.P161H C7orf31_ENST00000283905.3_Missense_Mutation_p.P161H Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 161 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 CGTGAAGGTGGGGAACATGGC 0.502 4 79 --- --- --- --- FKBP14 55033 broad.mit.edu 37 7 30065991 30065991 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:30065991C>A ENST00000222803.5 - 1 309 c.134G>T c.(133-135)gGg>gTg p.G45V NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa 45 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 CATCAAATCCCCTCCTTTGGT 0.433 6 273 --- --- --- --- AVL9 23080 broad.mit.edu 37 7 32582773 32582773 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:32582773C>A ENST00000318709.4 + 2 335 c.114C>A c.(112-114)ccC>ccA p.P38P AVL9_ENST00000409301.1_Silent_p.P38P|AVL9_ENST00000404479.1_Silent_p.P38P NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 38 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CTTACCCGCCCCTGATTCCAG 0.423 8 342 --- --- --- --- HERPUD2 64224 broad.mit.edu 37 7 35674969 35674969 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:35674969G>T ENST00000396081.1 - 6 1521 c.717C>A c.(715-717)ccC>ccA p.P239P HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P239P NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 239 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 GAGCTGGTGGGGGTTCTTCTC 0.473 7 327 --- --- --- --- WBSCR28 135886 broad.mit.edu 37 7 73279465 73279465 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:73279465C>A ENST00000320531.2 + 2 251 c.215C>A c.(214-216)cCc>cAc p.P72H NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 72 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) GCAGCCTGCCCCCTGGGCCAG 0.667 8 198 --- --- --- --- LAT2 7462 broad.mit.edu 37 7 73635998 73635998 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:73635998G>T ENST00000460943.1 + 10 1253 c.364G>T c.(364-366)Ggg>Tgg p.G122W LAT2_ENST00000275635.7_Missense_Mutation_p.G122W|LAT2_ENST00000344995.5_Missense_Mutation_p.G122W|LAT2_ENST00000398475.1_Missense_Mutation_p.G122W NM_032464.2 NP_115853.2 Q9GZY6 NTAL_HUMAN linker for activation of T cells family, member 2 122 B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 TTACAACTGGGGGCGGTTCTC 0.577 5 187 --- --- --- --- RFC2 5982 broad.mit.edu 37 7 73661093 73661093 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:73661093C>A ENST00000055077.3 - 5 393 c.333G>T c.(331-333)agG>agT p.R111S RFC2_ENST00000352131.3_Intron NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 111 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 CGTCAATGCCCCTGAAAGAAT 0.418 5 181 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82545722 82545722 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:82545722G>T ENST00000333891.9 - 7 11917 c.11580C>A c.(11578-11580)ccC>ccA p.P3860P PCLO_ENST00000437081.1_Silent_p.P580P|PCLO_ENST00000423517.2_Silent_p.P3860P NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATTCAGTTTGGGGAGCAGTTC 0.463 10 496 --- --- --- --- CPSF4 10898 broad.mit.edu 37 7 99051673 99051673 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:99051673C>A ENST00000436336.2 + 7 741 c.580C>A c.(580-582)Ccg>Acg p.P194T CPSF4_ENST00000451876.1_Missense_Mutation_p.P161T|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141T|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.P219T|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron NM_001081559.1|NM_006693.2 NP_001075028.1|NP_006684.1 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 30kDa 219 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding p.P219T(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5) 14 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAGAGAACCCCGCAGGTCAT 0.557 8 367 --- --- --- --- ZNF789 285989 broad.mit.edu 37 7 99084289 99084289 + Missense_Mutation SNP G G T rs139820028 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:99084289G>T ENST00000331410.5 + 5 726 c.456G>T c.(454-456)agG>agT p.R152S ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AATACAGCAGGGGCTTCCTTC 0.413 5 191 --- --- --- --- ZNF394 84124 broad.mit.edu 37 7 99091246 99091246 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:99091246C>A ENST00000337673.6 - 3 1795 c.1592G>T c.(1591-1593)gGg>gTg p.G531V ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 531 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAATCTTTCCCCACATTCAAG 0.458 6 391 --- --- --- --- ZKSCAN5 23660 broad.mit.edu 37 7 99117481 99117481 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:99117481C>A ENST00000394170.2 + 4 836 c.585C>A c.(583-585)ccC>ccA p.P195P ZKSCAN5_ENST00000326775.5_Silent_p.P195P|ZKSCAN5_ENST00000451158.1_Silent_p.P195P NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 195 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTTCCCTTCCCCTGAAGGACA 0.532 5 136 --- --- --- --- AGFG2 3268 broad.mit.edu 37 7 100151028 100151028 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:100151028C>A ENST00000300176.4 + 4 612 c.490C>A c.(490-492)Cct>Act p.P164T AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 164 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGCCTCCACCCCTGTGCAGGG 0.552 5 183 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100352869 100352869 + RNA SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:100352869C>A ENST00000542585.1 + 0 3293 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCCAAATGCCCGCTACGAATC 0.572 8 319 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100549663 100549663 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:100549663C>A ENST00000379458.4 + 2 244 c.244C>A c.(244-246)Ccc>Acc p.P82T MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CACTACCTCCCCCCATGACAC 0.557 5 163 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100675141 100675141 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:100675141C>A ENST00000306151.4 + 3 508 c.444C>A c.(442-444)ccC>ccA p.P148P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 148 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCGACGTGCCCATGTCAACAC 0.458 7 318 --- --- --- --- COG5 10466 broad.mit.edu 37 7 107188737 107188737 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:107188737C>A ENST00000393603.2 - 4 697 c.426G>T c.(424-426)caG>caT p.Q142H COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.Q142H|COG5_ENST00000347053.3_Missense_Mutation_p.Q142H NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 142 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CAACAGCTCCCTGTAAAGCCC 0.348 8 459 --- --- --- --- CBLL1 79872 broad.mit.edu 37 7 107395935 107395935 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:107395935G>T ENST00000440859.3 + 5 906 c.439G>T c.(439-441)Ggc>Tgc p.G147C CBLL1_ENST00000222597.2_Splice_Site_p.G146C|CBLL1_ENST00000415884.2_Intron NM_001284291.1|NM_024814.2 NP_001271220.1|NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 GATGTGTCCAGGGTAAGATAA 0.313 6 284 --- --- --- --- TMEM168 64418 broad.mit.edu 37 7 112423930 112423930 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:112423930C>A ENST00000312814.6 - 2 1511 c.951G>T c.(949-951)tgG>tgT p.W317C TMEM168_ENST00000454074.1_Missense_Mutation_p.W317C NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 TATGGAATCCCCAAAGAGTTA 0.353 8 416 --- --- --- --- CAV2 858 broad.mit.edu 37 7 116146187 116146187 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:116146187C>A ENST00000343213.2 + 2 355 c.313C>A c.(313-315)Cca>Aca p.P105T CAV2_ENST00000222693.4_3'UTR NM_198212.2 NP_937855.1 P51636 CAV2_HUMAN caveolin 2 0 caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle D1 dopamine receptor binding|protein homodimerization activity large_intestine(1)|lung(1)|skin(1) 3 all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642) STAD - Stomach adenocarcinoma(10;0.00878) TACTTGGACCCCAGGTCTGGA 0.408 5 186 --- --- --- --- MET 4233 broad.mit.edu 37 7 116435754 116435754 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:116435754C>A ENST00000397752.3 + 20 4044 c.3844C>A c.(3844-3846)Cca>Aca p.P1282T MET_ENST00000539704.1_Missense_Mutation_p.P152T|MET_ENST00000318493.6_Missense_Mutation_p.P1300T NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1282 Interaction with RANBP9.|Protein kinase. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AAGAGGAGCCCCACCTTATCC 0.463 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) OREG0003446 type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 392 --- --- --- --- AASS 10157 broad.mit.edu 37 7 121731808 121731808 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:121731808C>A ENST00000393376.1 - 17 2060 c.1965G>T c.(1963-1965)gtG>gtT p.V655V AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.V655V Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 655 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) TCAAAACTCCCACTGGACTCC 0.398 4 90 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135047678 135047678 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:135047678G>T ENST00000541284.1 - 12 2431 c.2101C>A c.(2101-2103)Ccc>Acc p.P701T CNOT4_ENST00000361528.4_Missense_Mutation_p.P627T|CNOT4_ENST00000451834.1_Missense_Mutation_p.P698T|CNOT4_ENST00000423368.2_Missense_Mutation_p.P630T NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 370 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 AAATCTGTGGGGGTTTTGCTG 0.527 9 509 --- --- --- --- BRAF 673 broad.mit.edu 37 7 140434425 140434425 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:140434425C>A ENST00000288602.6 - 18 2333 c.2273G>T c.(2272-2274)gGg>gTg p.G758V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 758 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) ACCATATCCCCCTGCCTGGAT 0.438 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 10 752 --- --- --- --- WEE2 494551 broad.mit.edu 37 7 141408679 141408679 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:141408679C>A ENST00000397541.2 + 1 527 c.121C>A c.(121-123)Cca>Aca p.P41T WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 41 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) GAGCCAAACCCCAGAGAAGGG 0.473 6 277 --- --- --- --- MGAM 8972 broad.mit.edu 37 7 141758042 141758042 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:141758042G>T ENST00000475668.2 + 31 3787 c.3733G>T c.(3733-3735)Ggg>Tgg p.G1245W MGAM_ENST00000549489.2_Missense_Mutation_p.G1245W O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1245 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.G1245W(3) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGGTCTTTGGGGTTCCAGCT 0.463 9 597 --- --- --- --- TAS2R60 338398 broad.mit.edu 37 7 143140817 143140817 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:143140817C>A ENST00000332690.1 + 1 272 c.272C>A c.(271-273)cCt>cAt p.P91H EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 91 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.P91L(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CCATACAACCCTGTACTGCAG 0.478 7 296 --- --- --- --- TAS2R60 338398 broad.mit.edu 37 7 143141423 143141423 + Missense_Mutation SNP C C A rs144018396 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:143141423C>A ENST00000332690.1 + 1 878 c.878C>A c.(877-879)cCc>cAc p.P293H EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 293 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) GCAGTTCACCCCATCATTCTG 0.493 7 326 --- --- --- --- OR2A14 135941 broad.mit.edu 37 7 143827062 143827062 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:143827062C>A ENST00000408899.2 + 1 912 c.857C>A c.(856-858)cCc>cAc p.P286H NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) ATGCTGAACCCCCTGATATAT 0.542 8 362 --- --- --- --- ZNF425 155054 broad.mit.edu 37 7 148800929 148800929 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:148800929C>A ENST00000378061.2 - 4 2166 c.2034G>T c.(2032-2034)agG>agT p.R678S NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 678 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TCAAGCTGCCCCTGATGCAGT 0.552 6 239 --- --- --- --- ZNF783 100289678 broad.mit.edu 37 7 148963960 148963960 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:148963960G>T ENST00000434415.1 + 3 634 c.471G>T c.(469-471)tgG>tgT p.W157C NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 157 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) AGCTGGAGTGGGGCAAGCTGG 0.592 6 263 --- --- --- --- NOS3 4846 broad.mit.edu 37 7 150696367 150696367 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:150696367C>A ENST00000297494.3 + 9 1403 c.1046C>A c.(1045-1047)cCc>cAc p.P349H NOS3_ENST00000484524.1_Missense_Mutation_p.P349H|NOS3_ENST00000461406.1_Missense_Mutation_p.P143H|NOS3_ENST00000467517.1_Missense_Mutation_p.P349H NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 349 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CTGGAGTTCCCCGCAGCCCCC 0.632 5 164 --- --- --- --- NCAPG2 54892 broad.mit.edu 37 7 158451099 158451099 + Splice_Site SNP T T A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr7:158451099T>A ENST00000409339.3 - 17 2104 c.1991A>T c.(1990-1992)gAt>gTt p.D664V NCAPG2_ENST00000409423.1_Splice_Site_p.D664V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V NM_001281933.1 NP_001268862.1 Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 664 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding p.D664V(1) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) GCAGCGATCATCCTAAAAGCG 0.383 14 31 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2830703 2830703 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:2830703C>A ENST00000602557.1 - 58 9417 c.8862G>T c.(8860-8862)agG>agT p.R2954S CSMD1_ENST00000602723.1_Missense_Mutation_p.R2896S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2953S|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2954S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2896S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2895S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2954 Sushi 22. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGGGGAGCCCCTCAGCTGGT 0.567 5 112 --- --- --- --- SGK223 157285 broad.mit.edu 37 8 8185557 8185557 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:8185557C>A ENST00000520004.1 - 5 2999 c.2735G>T c.(2734-2736)gGg>gTg p.G912V SGK223_ENST00000330777.4_Missense_Mutation_p.G912V Q86YV5 SG223_HUMAN 912 ATP binding|non-membrane spanning protein tyrosine kinase activity GGAGGGGGCCCCTTTGCACTG 0.662 4 51 --- --- --- --- ATP6V1B2 526 broad.mit.edu 37 8 20072428 20072428 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:20072428G>T ENST00000276390.2 + 10 1067 c.1027G>T c.(1027-1029)Ggg>Tgg p.G343W NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 343 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) GCGAGTGGAAGGGAGAAACGG 0.438 5 110 --- --- --- --- CDCA2 157313 broad.mit.edu 37 8 25327468 25327468 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:25327468C>A ENST00000330560.3 + 7 1269 c.792C>A c.(790-792)ccC>ccA p.P264P CDCA2_ENST00000380665.3_Silent_p.P249P NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 264 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGTCTCTTCCCCTTTCAGAGC 0.348 5 185 --- --- --- --- RNF122 79845 broad.mit.edu 37 8 33408563 33408563 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:33408563C>A ENST00000256257.1 - 4 670 c.269G>T c.(268-270)gGg>gTg p.G90V NM_024787.2 NP_079063.2 Q9H9V4 RN122_HUMAN ring finger protein 122 90 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) CACACTTACCCCATATAATTG 0.512 7 348 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37793285 37793285 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:37793285G>T ENST00000307599.4 - 7 965 c.866C>A c.(865-867)cCc>cAc p.P289H GOT1L1_ENST00000518826.1_Missense_Mutation_p.P30H NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 289 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) CGTGTTGGGGGGGTTTAGCCA 0.602 4 36 --- --- --- --- DDHD2 23259 broad.mit.edu 37 8 38109666 38109666 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:38109666C>A ENST00000397166.2 + 13 2003 c.1478C>A c.(1477-1479)cCc>cAc p.P493H DDHD2_ENST00000520272.2_Missense_Mutation_p.P493H|DDHD2_ENST00000517385.1_Missense_Mutation_p.P112H|DDHD2_ENST00000529845.1_5'UTR NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 493 lipid catabolic process centrosome hydrolase activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2) 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) GTGAAATACCCCCGGCTCATC 0.383 8 320 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205040 38205040 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:38205040G>T ENST00000317025.8 - 2 1167 c.650C>A c.(649-651)cCc>cAc p.P217H WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P217H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P217H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P217H NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 217 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) TTCTAATTTGGGGATTTTGTG 0.343 T NUP98 AML 6 322 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55541471 55541471 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:55541471G>T ENST00000220676.1 + 4 5177 c.5029G>T c.(5029-5031)Ggg>Tgg p.G1677W NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1677 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGATTCTGAAGGGCAGTCATT 0.413 8 581 --- --- --- --- TGS1 96764 broad.mit.edu 37 8 56723475 56723475 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:56723475C>A ENST00000260129.5 + 11 2656 c.2179C>A c.(2179-2181)Ctt>Att p.L727I NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 727 Sufficient for catalytic activity. cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TAAGATTGCCCTTGCTCGCAA 0.353 8 580 --- --- --- --- LYN 4067 broad.mit.edu 37 8 56863046 56863046 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:56863046C>A ENST00000520220.2 + 5 524 c.250C>A c.(250-252)Ctt>Att p.L84I LYN_ENST00000519728.1_Missense_Mutation_p.L105I NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 105 SH3. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) AGCAAAGTCCCTTTTAACAAA 0.388 8 621 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61654708 61654708 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:61654708C>A ENST00000423902.2 + 2 1196 c.717C>A c.(715-717)ccC>ccA p.P239P CHD7_ENST00000524602.1_Silent_p.P239P|CHD7_ENST00000525508.1_Silent_p.P239P NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 239 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCCACGTGCCCCAGCAGAGTC 0.577 6 231 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61773508 61773508 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:61773508C>A ENST00000423902.2 + 35 8133 c.7654C>A c.(7654-7656)Cca>Aca p.P2552T CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2552 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TATAGAGACCCCACCAACAAG 0.488 6 192 --- --- --- --- CSPP1 79848 broad.mit.edu 37 8 68028335 68028335 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:68028335C>A ENST00000262210.5 + 11 1490 c.1459C>A c.(1459-1461)Ctt>Att p.L487I CSPP1_ENST00000412460.1_Missense_Mutation_p.L193I NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 522 Pro-rich. centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CAGCAGCGCCCTTGGTGAAAT 0.443 8 254 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68204210 68204210 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:68204210C>A ENST00000262215.3 - 6 1177 c.788G>T c.(787-789)gGg>gTg p.G263V NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 263 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GTCAAGGTCCCCTTCGTGTTC 0.423 8 568 --- --- --- --- C8orf34 116328 broad.mit.edu 37 8 69434117 69434117 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:69434117C>A ENST00000337103.4 + 5 2108 c.516C>A c.(514-516)ccC>ccA p.P172P C8orf34_ENST00000539993.1_Silent_p.P197P|C8orf34_ENST00000518698.1_Silent_p.P283P|C8orf34_ENST00000348340.2_Silent_p.P197P|C8orf34_ENST00000349492.3_3'UTR Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 197 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATGCTGATCCCCTAGCTGCTG 0.443 6 186 --- --- --- --- NCOA2 10499 broad.mit.edu 37 8 71128949 71128949 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:71128949G>T ENST00000452400.2 - 3 213 c.32C>A c.(31-33)cCc>cAc p.P11H NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 11 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TGCCCTGGAGGGGTCAGAGGT 0.433 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 6 356 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74495061 74495061 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:74495061C>A ENST00000355780.5 - 11 1288 c.1070G>T c.(1069-1071)gGg>gTg p.G357V STAU2_ENST00000522695.1_Missense_Mutation_p.G357V|STAU2_ENST00000522509.1_Missense_Mutation_p.G357V|STAU2_ENST00000523558.1_Missense_Mutation_p.G217V|STAU2_ENST00000517542.1_Missense_Mutation_p.G351V|STAU2_ENST00000524300.1_Missense_Mutation_p.G389V|STAU2_ENST00000521451.1_Missense_Mutation_p.G169V|STAU2_ENST00000519961.1_Missense_Mutation_p.G389V|STAU2_ENST00000521727.1_Missense_Mutation_p.G369V|STAU2_ENST00000521210.1_Missense_Mutation_p.G285V NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 389 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTTGTTTTCCCCTGTCTGAAA 0.368 8 372 --- --- --- --- FABP9 646480 broad.mit.edu 37 8 82371443 82371443 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:82371443C>A ENST00000379071.2 - 2 258 c.203G>T c.(202-204)gGg>gTg p.G68V RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 68 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) AAATTCTTCCCCCAGCTTGAA 0.403 8 500 --- --- --- --- ATP6V0D2 245972 broad.mit.edu 37 8 87126083 87126083 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:87126083C>A ENST00000285393.3 + 2 418 c.276C>A c.(274-276)ccC>ccA p.P92P CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 92 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 CCCTGGAGCCCCTCAGCACAT 0.438 9 459 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100883834 100883834 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:100883834C>A ENST00000358544.2 + 61 11840 c.11729C>A c.(11728-11730)cCc>cAc p.P3910H VPS13B_ENST00000357162.2_Missense_Mutation_p.P3885H|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3910 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAGGCCTTCCCCGTCACAGAA 0.557 6 262 --- --- --- --- GRHL2 79977 broad.mit.edu 37 8 102570793 102570793 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:102570793C>A ENST00000251808.3 + 4 769 c.431C>A c.(430-432)cCc>cAc p.P144H GRHL2_ENST00000395927.1_Missense_Mutation_p.P128H NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 144 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATCAGCTTCCCCGAGAGCTCT 0.522 7 299 --- --- --- --- NCALD 83988 broad.mit.edu 37 8 102731682 102731682 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:102731682C>A ENST00000395923.1 - 4 635 c.176G>T c.(175-177)gGg>gTg p.G59V NCALD_ENST00000311028.3_Missense_Mutation_p.G59V|NCALD_ENST00000519508.2_Missense_Mutation_p.G59V|NCALD_ENST00000521599.1_Missense_Mutation_p.G59V|NCALD_ENST00000220931.6_Missense_Mutation_p.G59V|NCALD_ENST00000522951.1_Missense_Mutation_p.G59V NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 59 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) GGAAGCATCCCCATAAGGGAA 0.423 7 562 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106811108 106811108 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:106811108C>A ENST00000407775.2 + 7 1146 c.896C>A c.(895-897)cCc>cAc p.P299H RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P30H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P167H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 299 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGCCTGTGCCCCTTCCCACAG 0.498 7 316 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106815538 106815538 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:106815538C>A ENST00000407775.2 + 8 3478 c.3228C>A c.(3226-3228)ccC>ccA p.P1076P RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.P944P|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.P807P|ZFPM2_ENST00000517361.1_Silent_p.P944P|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 1076 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACAAATCTCCCTCGTGGATCT 0.478 4 74 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110412391 110412391 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:110412391G>T ENST00000378402.5 + 13 1203 c.1099G>T c.(1099-1101)Ggg>Tgg p.G367W NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 367 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAAAACGCCTGGGTACATGGG 0.448 HNSCC(38;0.096) 8 665 --- --- --- --- TAF2 6873 broad.mit.edu 37 8 120759089 120759089 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:120759089G>T ENST00000378164.2 - 23 3262 c.2964C>A c.(2962-2964)ccC>ccA p.P988P NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 988 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCTCTGGCAAGGGTAAACAGG 0.438 6 323 --- --- --- --- HAS2 3037 broad.mit.edu 37 8 122626619 122626619 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:122626619C>A ENST00000303924.4 - 4 1926 c.1389G>T c.(1387-1389)tgG>tgT p.W463C NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 463 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CTGATGTGCCCCACCCAGCTT 0.408 8 538 --- --- --- --- ZHX2 22882 broad.mit.edu 37 8 123964946 123964946 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:123964946G>T ENST00000314393.4 + 3 2031 c.1196G>T c.(1195-1197)gGa>gTa p.G399V NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 399 Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G399V(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GCCGTGGCAGGAGTCACCAAC 0.627 25 57 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124096568 124096568 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:124096568G>T ENST00000287380.1 + 4 597 c.507G>T c.(505-507)gtG>gtT p.V169V TBC1D31_ENST00000309336.3_Silent_p.V169V|TBC1D31_ENST00000522420.1_Silent_p.V64V|TBC1D31_ENST00000521676.1_Silent_p.V64V|TBC1D31_ENST00000327098.5_Silent_p.V169V|TBC1D31_ENST00000378080.2_Silent_p.V64V NM_145647.3 NP_663622.2 TBC1 domain family, member 31 GCCAGTCTGTGGGTATACAGA 0.413 6 303 --- --- --- --- ANXA13 312 broad.mit.edu 37 8 124693587 124693587 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:124693587C>A ENST00000262219.6 - 12 1034 c.967G>T c.(967-969)Ggg>Tgg p.G323W ANXA13_ENST00000419625.1_Missense_Mutation_p.G282W NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 282 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) GCTTTGATCCCCTGAAGGTCC 0.443 8 494 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 124992823 124992823 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:124992823G>T ENST00000522917.1 + 11 1388 c.1182G>T c.(1180-1182)agG>agT p.R394S FER1L6_ENST00000399018.1_Missense_Mutation_p.R394S NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 394 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGTCATTCAGGGGCAGAATCT 0.512 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 352 --- --- --- --- ASAP1 50807 broad.mit.edu 37 8 131138263 131138263 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:131138263C>A ENST00000357668.1 - 16 1481 c.1454G>T c.(1453-1455)gGg>gTg p.G485V ASAP1_ENST00000518721.1_Missense_Mutation_p.G485V Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 485 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 AATATGAACCCCCATTTCCCT 0.398 6 308 --- --- --- --- ZFAT 57623 broad.mit.edu 37 8 135524772 135524772 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:135524772C>A ENST00000520727.1 - 15 3570 c.3271G>T c.(3271-3273)Ggg>Tgg p.G1091W ZFAT_ENST00000429442.2_Missense_Mutation_p.G1091W|ZFAT_ENST00000377838.3_Missense_Mutation_p.G1103W|ZFAT_ENST00000520214.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.G1041W NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1103 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GCCTGTGTCCCTTGAACGTCT 0.527 8 498 --- --- --- --- COL22A1 169044 broad.mit.edu 37 8 139737668 139737668 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:139737668G>T ENST00000303045.6 - 24 2601 c.2155C>A c.(2155-2157)Cct>Act p.P719T COL22A1_ENST00000435777.1_Missense_Mutation_p.P719T NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 719 Collagen-like 5.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGACACCAGGGGGTCCTGGA 0.582 HNSCC(7;0.00092) 7 229 --- --- --- --- RPL8 6132 broad.mit.edu 37 8 146015222 146015222 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr8:146015222C>A ENST00000262584.3 - 6 973 c.741G>T c.(739-741)cgG>cgT p.R247R RPL8_ENST00000394920.2_Silent_p.R247R|RPL8_ENST00000527914.1_Silent_p.R138R|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.R247R NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 247 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) TCTTGGTTCCCCGGAGACGTC 0.587 9 493 --- --- --- --- DMRT2 10655 broad.mit.edu 37 9 1056357 1056357 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:1056357G>T ENST00000382251.3 + 5 1099 c.770G>T c.(769-771)aGg>aTg p.R257M DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R257M|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.R257M Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 257 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TATAAAGAAAGGGAGATGTTG 0.478 6 266 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2073246 2073246 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:2073246C>A ENST00000382203.1 + 11 1990 c.1781C>A c.(1780-1782)cCt>cAt p.P594H SMARCA2_ENST00000349721.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P594H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P594H P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 594 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AGTGACCTCCCTGTCAAAGTG 0.517 4 81 --- --- --- --- ERMP1 79956 broad.mit.edu 37 9 5811200 5811200 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:5811200G>T ENST00000339450.5 - 7 1327 c.1238C>A c.(1237-1239)cCc>cAc p.P413H ERMP1_ENST00000381506.3_Missense_Mutation_p.P189H|ERMP1_ENST00000214893.5_5'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 413 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) AATACGAGAGGGGTAGGCAAT 0.418 6 185 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8518276 8518276 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:8518276C>A ENST00000381196.4 - 18 1658 c.1115G>T c.(1114-1116)gGg>gTg p.G372V PTPRD_ENST00000537002.1_Missense_Mutation_p.G369V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G369V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G372V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G372V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G362V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G359V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G359V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G362V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G372V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G372V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 372 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTCGCCACCCCATCAATTTC 0.478 TSP Lung(15;0.13) 8 252 --- --- --- --- MPDZ 8777 broad.mit.edu 37 9 13168467 13168467 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:13168467C>A ENST00000319217.7 - 22 3399 c.3152G>T c.(3151-3153)gGg>gTg p.G1051V MPDZ_ENST00000536827.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1051V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1051V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1051V NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1051 PDZ 6. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GATGCAGTCCCCAATGGCAAT 0.463 9 448 --- --- --- --- IFNA21 3452 broad.mit.edu 37 9 21166427 21166427 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:21166427G>T ENST00000380225.1 - 1 232 c.185C>A c.(184-186)cCc>cAc p.P62H NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 62 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTCCTCCTGGGGGAATCCAAA 0.512 7 314 --- --- --- --- ACO1 48 broad.mit.edu 37 9 32420870 32420870 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:32420870G>T ENST00000309951.6 + 8 953 c.815G>T c.(814-816)gGg>gTg p.G272V ACO1_ENST00000541043.1_Missense_Mutation_p.G173V|ACO1_ENST00000379923.1_Missense_Mutation_p.G272V NM_002197.2 NP_002188.1 P21399 ACOC_HUMAN aconitase 1, soluble citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CGCCAGGTTGGGGTAGTGGGC 0.483 6 252 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32631563 32631563 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:32631563C>A ENST00000242310.4 - 1 4104 c.4015G>T c.(4015-4017)Ggg>Tgg p.G1339W NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1339 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATTTTGGTCCCTTCAACCTTG 0.428 11 620 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633778 32633778 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:32633778C>A ENST00000242310.4 - 1 1889 c.1800G>T c.(1798-1800)cgG>cgT p.R600R RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 600 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAAAGGTGCCCCGAAGACCCT 0.488 7 405 --- --- --- --- PRSS3 5646 broad.mit.edu 37 9 33796754 33796754 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:33796754C>A ENST00000361005.5 + 2 325 c.325C>A c.(325-327)Ctc>Atc p.L109I RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L45I|PRSS3_ENST00000342836.4_Missense_Mutation_p.L66I|PRSS3_ENST00000379405.3_Missense_Mutation_p.L52I NM_007343.3 NP_031369 P35030 TRY3_HUMAN protease, serine, 3 109 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) CGGTGGCTCCCTCATCAGCGA 0.572 5 156 --- --- --- --- KIAA1045 23349 broad.mit.edu 37 9 34971620 34971620 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:34971620C>A ENST00000242315.3 + 2 407 c.325C>A c.(325-327)Cgg>Agg p.R109R KIAA1045_ENST00000544237.1_Silent_p.R109R|KIAA1045_ENST00000476115.2_Intron NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 109 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) CCGCCCCACCCGGAAGCTGGA 0.602 5 255 --- --- --- --- CD72 971 broad.mit.edu 37 9 35618112 35618112 + Missense_Mutation SNP C C A rs150199723 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:35618112C>A ENST00000396757.1 - 3 253 c.89G>T c.(88-90)gGg>gTg p.G30V CD72_ENST00000378431.1_Missense_Mutation_p.G30V|CD72_ENST00000378430.3_Missense_Mutation_p.G30V|CD72_ENST00000259633.4_Missense_Mutation_p.G30V|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 30 axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATCATCAGCCCCTGGGTCTAG 0.557 6 279 --- --- --- --- SPAG8 26206 broad.mit.edu 37 9 35811260 35811260 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:35811260G>T ENST00000340291.2 - 2 907 c.783C>A c.(781-783)ccC>ccA p.P261P SPAG8_ENST00000396638.2_Silent_p.P261P|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Silent_p.P259P NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 261 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) TAATGTCTGGGGGTTTCCATA 0.522 8 385 --- --- --- --- FBXO10 26267 broad.mit.edu 37 9 37541291 37541291 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:37541291C>A ENST00000432825.2 - 2 523 c.475G>T c.(475-477)Ggg>Tgg p.G159W FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 159 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCCAACTTCCCCTGCCCTACA 0.562 7 240 --- --- --- --- ALDH1B1 219 broad.mit.edu 37 9 38396013 38396013 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:38396013G>T ENST00000377698.3 + 2 421 c.268G>T c.(268-270)Ggg>Tgg p.G90W NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 90 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CTTCCGCCTGGGGTCCCCATG 0.667 5 143 --- --- --- --- ZNF658 26149 broad.mit.edu 37 9 40773146 40773146 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:40773146C>A ENST00000602553.1 - 5 2423 c.2129G>T c.(2128-2130)gGg>gTg p.G710V ZNF658_ENST00000377626.3_Missense_Mutation_p.G710V|ZNF658_ENST00000441795.1_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGGTTTCTCCCCCGTGTGAAT 0.403 12 854 --- --- --- --- APBA1 320 broad.mit.edu 37 9 72131016 72131016 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:72131016G>T ENST00000265381.4 - 2 1333 c.1111C>A c.(1111-1113)Ccc>Acc p.P371T NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 371 Pro-rich. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 GGCTCGTCGGGGGTGTAAGGC 0.592 5 163 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77365581 77365581 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:77365581G>T ENST00000451710.3 - 30 5293 c.5056C>A c.(5056-5058)Ctc>Atc p.L1686I TRPM6_ENST00000360774.1_Splice_Site_p.L1686M|TRPM6_ENST00000376872.3_Splice_Site_p.L637I|TRPM6_ENST00000361255.3_Splice_Site_p.L1681M|TRPM6_ENST00000449912.2_Splice_Site_p.L1681M|TRPM6_ENST00000376871.3_Splice_Site_p.L519I|TRPM6_ENST00000376864.4_Splice_Site_p.L1686I Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1686 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.L1686L(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AATACTCACAGGGAGTTCCTA 0.393 5 139 --- --- --- --- FRMD3 257019 broad.mit.edu 37 9 85925435 85925435 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:85925435C>A ENST00000304195.3 - 9 1008 c.802G>T c.(802-804)Ggg>Tgg p.G268W FRMD3_ENST00000376438.1_Missense_Mutation_p.G268W|FRMD3_ENST00000376434.1_Missense_Mutation_p.G74W NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 268 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding p.G164W(1)|p.G268W(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 AATGTCTTCCCTTCAAACTTC 0.408 8 526 --- --- --- --- KIF27 55582 broad.mit.edu 37 9 86506251 86506251 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:86506251C>A ENST00000297814.2 - 6 1911 c.1768G>T c.(1768-1770)Ggg>Tgg p.G590W KIF27_ENST00000413982.1_Missense_Mutation_p.G590W|KIF27_ENST00000334204.2_Missense_Mutation_p.G590W NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 590 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 ATATAATGCCCCAAATGAGTA 0.378 6 281 --- --- --- --- ZCCHC6 79670 broad.mit.edu 37 9 88938005 88938005 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:88938005C>A ENST00000277141.6 - 14 2951 c.527G>T c.(526-528)gGg>gTg p.G176V ZCCHC6_ENST00000375963.3_Missense_Mutation_p.G887V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G764V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G887V Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 887 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GTCCTCATCCCCTGACCCAGT 0.463 7 293 --- --- --- --- ZCCHC6 79670 broad.mit.edu 37 9 88960033 88960033 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:88960033G>T ENST00000375961.2 - 5 1070 c.856C>A c.(856-858)Cca>Aca p.P286T ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P286T|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P119T Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 286 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 GGTGTTGGTGGGGGTAACGTA 0.413 7 286 --- --- --- --- SECISBP2 79048 broad.mit.edu 37 9 91972384 91972384 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:91972384C>A ENST00000375807.3 + 15 2243 c.2172C>A c.(2170-2172)ccC>ccA p.P724P SECISBP2_ENST00000339901.4_Silent_p.P651P|SECISBP2_ENST00000534113.2_Silent_p.P656P NM_001282688.1|NM_001282690.1|NM_024077.3 NP_001269617.1|NP_001269619.1|NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 724 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 AGAACATTCCCTTTGTGTTTG 0.483 7 485 --- --- --- --- ASPN 54829 broad.mit.edu 37 9 95227269 95227269 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:95227269C>A ENST00000375544.3 - 5 887 c.644G>T c.(643-645)gGg>gTg p.G215V ASPN_ENST00000395538.3_Missense_Mutation_p.G215V|ASPN_ENST00000375543.1_Missense_Mutation_p.G215V|CENPP_ENST00000375587.3_Intron NM_017680.4 NP_060150 Q9BXN1 ASPN_HUMAN asporin 215 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 TTCAAATGCCCCTGGCTCTAT 0.398 6 345 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277239 95277239 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:95277239C>A ENST00000344604.5 - 4 877 c.728G>T c.(727-729)gGg>gTg p.G243V ECM2_ENST00000444490.2_Missense_Mutation_p.G221V|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 243 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TCTGCTGTCCCCCTCACTGTA 0.527 10 676 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277276 95277276 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:95277276G>T ENST00000344604.5 - 4 840 c.691C>A c.(691-693)Cct>Act p.P231T ECM2_ENST00000444490.2_Missense_Mutation_p.P209T|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 231 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 CTAGATTCAGGGGTCTCTCTC 0.498 8 578 --- --- --- --- KLF4 9314 broad.mit.edu 37 9 110248118 110248118 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:110248118C>A ENST00000374672.4 - 5 1827 c.1354G>T c.(1354-1356)Ggg>Tgg p.G452W NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 486 fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GGGCGGTGCCCCGTGTGTTTA 0.532 6 233 --- --- --- --- ACTL7A 10881 broad.mit.edu 37 9 111625668 111625668 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:111625668G>T ENST00000333999.3 + 1 1066 c.1066G>T c.(1066-1068)Ggg>Tgg p.G356W NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 356 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGACCTCATGGGGAACATCCT 0.577 5 170 --- --- --- --- PALM2-AKAP2 445815 broad.mit.edu 37 9 112898575 112898575 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:112898575C>A ENST00000374530.3 + 8 931 c.751C>A c.(751-753)Cca>Aca p.P251T AKAP2_ENST00000555236.1_Missense_Mutation_p.P251T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251T|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251T|AKAP2_ENST00000259318.7_Missense_Mutation_p.P20T|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109T|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109T NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 20 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CACCTCTACCCCACATCCCAT 0.498 7 350 --- --- --- --- PALM2-AKAP2 445815 broad.mit.edu 37 9 112898615 112898615 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:112898615C>A ENST00000374530.3 + 8 971 c.791C>A c.(790-792)cCg>cAg p.P264Q AKAP2_ENST00000555236.1_Missense_Mutation_p.P264Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P264Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.P264Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.P33Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.P122Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.P122Q NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 33 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TATTCACCCCCGCATAATGGC 0.488 5 340 --- --- --- --- PAPPA 5069 broad.mit.edu 37 9 118949849 118949849 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:118949849C>A ENST00000328252.3 + 2 1201 c.832C>A c.(832-834)Cac>Aac p.H278N NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 278 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCATGGCGCCCACACTGCTCT 0.567 6 170 --- --- --- --- PAPPA 5069 broad.mit.edu 37 9 118974050 118974050 + Missense_Mutation SNP C C A rs146832580 by1000genomes TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:118974050C>A ENST00000328252.3 + 4 2126 c.1757C>A c.(1756-1758)cCc>cAc p.P586H PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 586 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGCAGTGACCCCTGCATGGAG 0.562 6 251 --- --- --- --- OR1J2 26740 broad.mit.edu 37 9 125273777 125273777 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:125273777G>T ENST00000335302.5 + 1 697 c.697G>T c.(697-699)Ggg>Tgg p.G233W NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TTCAACCAAAGGGATCCACAA 0.498 6 224 --- --- --- --- OR1N2 138882 broad.mit.edu 37 9 125316129 125316129 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:125316129C>A ENST00000373688.2 + 1 739 c.681C>A c.(679-681)ccC>ccA p.P227P NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TCACTGTTCCCCTCCTGCTGA 0.507 7 345 --- --- --- --- RC3H2 54542 broad.mit.edu 37 9 125622392 125622392 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:125622392G>T ENST00000373670.1 - 10 2253 c.1653C>A c.(1651-1653)ccC>ccA p.P551P RC3H2_ENST00000423239.2_Silent_p.P551P|RC3H2_ENST00000357244.2_Silent_p.P551P Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 551 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CAGGAGTCTTGGGTGGAGAAC 0.393 6 295 --- --- --- --- RABGAP1 23637 broad.mit.edu 37 9 125760997 125760997 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:125760997C>A ENST00000373647.4 + 10 1460 c.1326C>A c.(1324-1326)ccC>ccA p.P442P NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 442 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 TATTCTGGCCCTTCAGCAAAC 0.373 6 264 --- --- --- --- GOLGA1 2800 broad.mit.edu 37 9 127652687 127652687 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:127652687C>A ENST00000373555.4 - 16 1811 c.1478G>T c.(1477-1479)aGg>aTg p.R493M NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 493 Gln-rich. Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 GAACTCTTCCCTTTGCTTCCG 0.582 7 145 --- --- --- --- RALGPS1 9649 broad.mit.edu 37 9 129930977 129930977 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:129930977C>A ENST00000259351.5 + 10 1035 c.768C>A c.(766-768)ccC>ccA p.P256P RALGPS1_ENST00000394022.3_Silent_p.P256P|RALGPS1_ENST00000373436.1_Silent_p.P256P|RALGPS1_ENST00000424082.2_Silent_p.P256P|RALGPS1_ENST00000373434.1_Silent_p.P256P NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 256 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CCACCCTGCCCCATGTGCAGA 0.478 6 280 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134090730 134090730 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:134090730G>T ENST00000359428.5 + 31 5868 c.5724G>T c.(5722-5724)ggG>ggT p.G1908G NUP214_ENST00000411637.2_Silent_p.G1898G|NUP214_ENST00000483497.2_Silent_p.G734G|NUP214_ENST00000451030.1_Silent_p.G1909G P35658 NU214_HUMAN nucleoporin 214kDa 1908 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CGGCCAGTGGGGGCTTTGGAT 0.507 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 151 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138714837 138714837 + Missense_Mutation SNP G G T rs138818284 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:138714837G>T ENST00000389532.4 - 11 1734 c.1670C>A c.(1669-1671)cCg>cAg p.P557Q CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P279Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P568Q NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 557 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GGGGAACTCCGGGTCAGCCTG 0.577 5 366 --- --- --- --- SEC16A 9919 broad.mit.edu 37 9 139357510 139357510 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:139357510G>T ENST00000313050.7 - 10 4795 c.4722C>A c.(4720-4722)ccC>ccA p.P1574P SEC16A_ENST00000371706.3_Silent_p.P1396P|SEC16A_ENST00000431893.2_Silent_p.P1396P|SEC16A_ENST00000290037.6_Silent_p.P1396P NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1396 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TTGCTTCATTGGGCGACTTCC 0.552 5 121 --- --- --- --- ENTPD8 377841 broad.mit.edu 37 9 140331457 140331457 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr9:140331457C>A ENST00000371506.2 - 5 602 c.419G>T c.(418-420)aGg>aTg p.R140M ENTPD8_ENST00000344119.2_Missense_Mutation_p.R140M|ENTPD8_ENST00000472938.1_Missense_Mutation_p.R140M NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 140 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) AAAGATGTCCCTGGCCTGAGA 0.687 4 70 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7262401 7262401 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:7262401C>A ENST00000361972.4 - 11 1392 c.1302G>T c.(1300-1302)aaG>aaT p.K434N SFMBT2_ENST00000397167.1_Missense_Mutation_p.K434N NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 434 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TTAGCCGCCCCTTCACACTCA 0.522 7 237 --- --- --- --- DHTKD1 55526 broad.mit.edu 37 10 12155041 12155041 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:12155041C>A ENST00000263035.4 + 13 2359 c.2297C>A c.(2296-2298)cCt>cAt p.P766H NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 766 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GTTGCTTCCCCTAAGATGTTA 0.433 4 129 --- --- --- --- SEC61A2 55176 broad.mit.edu 37 10 12203061 12203061 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:12203061G>T ENST00000379033.3 + 9 1189 c.1042G>T c.(1042-1044)Ggg>Tgg p.G348W SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.G370W|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G370W|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G304W NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 370 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) CTTCATGTTGGGGTCATGTGC 0.423 6 231 --- --- --- --- SEPHS1 22929 broad.mit.edu 37 10 13361211 13361211 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:13361211G>T ENST00000327347.5 - 9 1485 c.1110C>A c.(1108-1110)ccC>ccA p.P370P SEPHS1_ENST00000537130.1_Silent_p.P303P|SEPHS1_ENST00000378614.4_Silent_p.P299P|SEPHS1_ENST00000545675.1_3'UTR NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 370 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 CGATGATCCGGGGTTTGTCTA 0.488 8 528 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13900904 13900904 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:13900904C>A ENST00000357447.2 - 3 422 c.54G>T c.(52-54)gaG>gaT p.E18D FRMD4A_ENST00000342409.2_Missense_Mutation_p.E34D|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E18D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E3D NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 18 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 ATCGGCGGCCCTCCGTCATCT 0.498 5 205 --- --- --- --- ARHGAP21 57584 broad.mit.edu 37 10 24874770 24874770 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:24874770G>T ENST00000396432.2 - 26 4934 c.4448C>A c.(4447-4449)cCc>cAc p.P1483H NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1482 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TGTCGTGCTGGGGTCTTTCCT 0.423 9 589 --- --- --- --- APBB1IP 54518 broad.mit.edu 37 10 26849107 26849107 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:26849107G>T ENST00000376236.4 + 12 1684 c.1229G>T c.(1228-1230)tGg>tTg p.W410L NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 410 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CTTAACCAGTGGGTCATGGGA 0.502 6 161 --- --- --- --- ZNF438 220929 broad.mit.edu 37 10 31137869 31137869 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:31137869G>T ENST00000452305.1 - 8 1998 c.1435C>A c.(1435-1437)Cct>Act p.P479T ZNF438_ENST00000375311.1_Missense_Mutation_p.P53T|ZNF438_ENST00000436087.2_Missense_Mutation_p.P489T|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479T|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489T|ZNF438_ENST00000361310.3_Missense_Mutation_p.P489T|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479T|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489T|ZNF438_ENST00000538351.2_Missense_Mutation_p.P440T NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CTGGGCTTAGGGGAAGAGCTG 0.473 9 260 --- --- --- --- EPC1 80314 broad.mit.edu 37 10 32560609 32560609 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:32560609G>T ENST00000319778.6 - 13 2544 c.2242C>A c.(2242-2244)Cca>Aca p.P748T EPC1_ENST00000375110.2_Missense_Mutation_p.P698T|EPC1_ENST00000263062.8_Missense_Mutation_p.P771T NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 771 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) GCATTTATTGGGGCAATAGAG 0.443 6 352 --- --- --- --- NRP1 8829 broad.mit.edu 37 10 33469173 33469173 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:33469173C>A ENST00000265371.4 - 18 3128 c.2603G>T c.(2602-2604)gGg>gTg p.G868V NRP1_ENST00000374875.1_Missense_Mutation_p.G680V|NRP1_ENST00000374867.2_Missense_Mutation_p.G868V|NRP1_ENST00000395995.1_Missense_Mutation_p.G851V O14786 NRP1_HUMAN neuropilin 1 868 axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CAGGAGGACCCCCAGGGCACT 0.522 6 257 --- --- --- --- BMS1 9790 broad.mit.edu 37 10 43288532 43288532 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:43288532G>T ENST00000374518.5 + 8 1092 c.1029G>T c.(1027-1029)ggG>ggT p.G343G NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTGGAGTTGGGGGTGTGCTGT 0.483 9 339 --- --- --- --- ZNF32 7580 broad.mit.edu 37 10 44140142 44140142 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:44140142G>T ENST00000395797.1 - 3 366 c.178C>A c.(178-180)Cca>Aca p.P60T ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.P60T NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 60 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) TTCGAATCTGGGGATTTTTGT 0.463 7 371 --- --- --- --- UBE2D1 7321 broad.mit.edu 37 10 60127731 60127731 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:60127731C>A ENST00000373910.4 + 6 580 c.353C>A c.(352-354)cCc>cAc p.P118H NM_001204880.1|NM_003338.4 NP_001191809.1|NP_003329.1 P51668 UB2D1_HUMAN ubiquitin-conjugating enzyme E2D 1 118 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2) 10 CCAGATGACCCCTTAGTACCA 0.313 6 274 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61831142 61831142 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:61831142G>T ENST00000280772.2 - 37 9688 c.9497C>A c.(9496-9498)cCt>cAt p.P3166H ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGGGTTAAAGGGCTTTTCCC 0.448 5 174 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63845636 63845636 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:63845636C>A ENST00000279873.7 + 9 1785 c.1375C>A c.(1375-1377)Cca>Aca p.P459T ARID5B_ENST00000309334.5_Missense_Mutation_p.P216T NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 459 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) AGAAAATGCCCCAAAGCCCCA 0.448 7 231 --- --- --- --- H2AFY2 55506 broad.mit.edu 37 10 71868954 71868954 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:71868954C>A ENST00000373255.4 + 8 1208 c.944C>A c.(943-945)cCc>cAc p.P315H AIFM2_ENST00000373248.1_Intron NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 315 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 CCGCCTTTCCCCAGCGGCAGG 0.542 5 80 --- --- --- --- PSAP 5660 broad.mit.edu 37 10 73578465 73578465 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:73578465G>T ENST00000394936.3 - 13 1595 c.1448C>A c.(1447-1449)cCc>cAc p.P483H PSAP_ENST00000394934.1_Missense_Mutation_p.P485H P07602 SAP_HUMAN prosaposin 483 Saposin B-type 4. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 ATGGGCCGAGGGGCAGGCTCC 0.493 6 296 --- --- --- --- P4HA1 5033 broad.mit.edu 37 10 74810827 74810827 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:74810827C>A ENST00000412021.2 - 8 1217 c.884G>T c.(883-885)gGg>gTg p.G295V P4HA1_ENST00000394890.2_Missense_Mutation_p.G295V|P4HA1_ENST00000263556.3_Missense_Mutation_p.G295V|P4HA1_ENST00000440381.1_Missense_Mutation_p.G295V|P4HA1_ENST00000373008.2_Missense_Mutation_p.G295V|P4HA1_ENST00000307116.2_Missense_Mutation_p.G295V NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 295 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GATACCCTCCCCACGGCACAG 0.418 11 582 --- --- --- --- POLR3A 11128 broad.mit.edu 37 10 79785871 79785871 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:79785871C>A ENST00000372371.3 - 2 298 c.161G>T c.(160-162)gGg>gTg p.G54V NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 54 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GTCGAGCACCCCATATAGCAA 0.537 5 150 --- --- --- --- GRID1 2894 broad.mit.edu 37 10 87487628 87487628 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:87487628C>A ENST00000327946.7 - 10 1602 c.1517G>T c.(1516-1518)gGg>gTg p.G506V GRID1_ENST00000536331.1_Missense_Mutation_p.G77V NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 506 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GATGAGCTCCCCGATCATCCC 0.542 Multiple Myeloma(13;0.14) 5 181 --- --- --- --- IFIT1 3434 broad.mit.edu 37 10 91162647 91162647 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:91162647C>A ENST00000546318.1 + 2 1809 c.522C>A c.(520-522)ccC>ccA p.P174P IFIT1_ENST00000371804.3_Silent_p.P205P|LIPA_ENST00000371837.1_Intron NM_001270928.1|NM_001270929.1|NM_001270930.1 NP_001257857.1|NP_001257858.1|NP_001257859.1 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 205 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding p.P205P(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 CTTTGCTTCCCCTAAGGCAGG 0.463 10 693 --- --- --- --- CPEB3 22849 broad.mit.edu 37 10 93851634 93851634 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:93851634G>T ENST00000412050.4 - 8 1686 c.1598C>A c.(1597-1599)cCc>cAc p.P533H CPEB3_ENST00000265997.4_Missense_Mutation_p.P547H NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 547 nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) AGTTTTTCTGGGGTCCAAAGG 0.433 5 137 --- --- --- --- ALDH18A1 5832 broad.mit.edu 37 10 97366611 97366611 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:97366611C>A ENST00000371224.2 - 18 2433 c.2296G>T c.(2296-2298)Ggg>Tgg p.G766W ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G764W NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 766 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) TGGTCCTTCCCTCGCAGCAGC 0.488 7 400 --- --- --- --- SLIT1 6585 broad.mit.edu 37 10 98824595 98824595 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:98824595C>A ENST00000266058.4 - 6 769 c.524G>T c.(523-525)gGg>gTg p.G175V SLIT1_ENST00000371041.3_Missense_Mutation_p.G175V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G175V NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 175 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) ACGGAAGGCCCCTTCCTCAAT 0.562 6 310 --- --- --- --- RRP12 23223 broad.mit.edu 37 10 99139075 99139075 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:99139075G>T ENST00000370992.4 - 15 1884 c.1773C>A c.(1771-1773)ccC>ccA p.P591P RRP12_ENST00000536831.1_Silent_p.P309P|RRP12_ENST00000315563.6_Silent_p.P491P|RRP12_ENST00000414986.1_Silent_p.P530P NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 591 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TGTTAGCCAGGGGCAAGAAGT 0.562 10 445 --- --- --- --- EXOSC1 51013 broad.mit.edu 37 10 99203015 99203015 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:99203015C>A ENST00000370902.3 - 3 232 c.201G>T c.(199-201)gtG>gtT p.V67V EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Silent_p.V67V NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 67 S1 motif. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding p.V67V(1) breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) CAATAGCTCCCACATCTGGCA 0.458 7 442 --- --- --- --- DNMBP 23268 broad.mit.edu 37 10 101715791 101715791 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:101715791C>A ENST00000342239.3 - 4 1531 c.1440G>T c.(1438-1440)agG>agT p.R480S DNMBP_ENST00000324109.4_Missense_Mutation_p.R480S|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 480 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CAGAAGAGCCCCTGTAAAGAG 0.473 6 300 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107910 102107910 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:102107910C>A ENST00000370355.2 + 2 498 c.117C>A c.(115-117)ccC>ccA p.P39P NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 39 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) AGACGATGCCCCTCTACTTGG 0.507 7 261 --- --- --- --- FAM178A 55719 broad.mit.edu 37 10 102698452 102698452 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:102698452C>A ENST00000238961.4 + 11 3155 c.2613C>A c.(2611-2613)ccC>ccA p.P871P FAM178A_ENST00000370269.3_Silent_p.P871P NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A CTTTGTTTCCCCTGGAGAATC 0.363 6 352 --- --- --- --- HPS6 79803 broad.mit.edu 37 10 103826089 103826089 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:103826089G>T ENST00000299238.5 + 1 943 c.858G>T c.(856-858)ggG>ggT p.G286G NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 286 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TTGACTTCGGGGGCACTGTGA 0.672 Hermansky-Pudlak syndrome 4 76 --- --- --- --- HPS6 79803 broad.mit.edu 37 10 103826902 103826902 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:103826902C>A ENST00000299238.5 + 1 1756 c.1671C>A c.(1669-1671)ccC>ccA p.P557P NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 557 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GAAAGGAACCCCCCAATGGAA 0.587 Hermansky-Pudlak syndrome 5 118 --- --- --- --- SUFU 51684 broad.mit.edu 37 10 104264005 104264005 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:104264005G>T ENST00000369902.3 + 1 262 c.96G>T c.(94-96)ccG>ccT p.P32P SUFU_ENST00000423559.2_Silent_p.P32P|SUFU_ENST00000369899.2_Silent_p.P32P NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 32 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) TCTTTCCCCCGGGACTGCACG 0.721 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 3 40 --- --- --- --- SH3PXD2A 9644 broad.mit.edu 37 10 105363021 105363021 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:105363021G>T ENST00000369774.4 - 15 2230 c.1954C>A c.(1954-1956)Ctg>Atg p.L652M SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L487M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L624M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L519M Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 652 Ser-rich. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TTCCTGGTCAGGGACAGCGAG 0.572 6 313 --- --- --- --- SORCS3 22986 broad.mit.edu 37 10 106737151 106737151 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:106737151G>T ENST00000369701.3 + 4 1081 c.854G>T c.(853-855)gGg>gTg p.G285V NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 285 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCAGACGAAGGGGCGACCTAT 0.468 5 164 --- --- --- --- XPNPEP1 7511 broad.mit.edu 37 10 111633142 111633142 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:111633142G>T ENST00000502935.1 - 16 1554 c.1435C>A c.(1435-1437)Cct>Act p.P479T XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P365T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.P436T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P455T Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 436 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) TAGGCTGTAGGGGTCCCAAAA 0.413 7 252 --- --- --- --- NRAP 4892 broad.mit.edu 37 10 115413823 115413823 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:115413823G>T ENST00000369358.4 - 5 666 c.422C>A c.(421-423)cCc>cAc p.P141H NRAP_ENST00000360478.3_Missense_Mutation_p.P141H|NRAP_ENST00000359988.3_Missense_Mutation_p.P141H|NRAP_ENST00000369360.3_Missense_Mutation_p.P141H Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 141 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TACAATTTCGGGGTCTGGCAG 0.463 7 454 --- --- --- --- PLEKHS1 79949 broad.mit.edu 37 10 115540429 115540429 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:115540429C>A ENST00000354462.3 + 6 644 c.486C>A c.(484-486)ccC>ccA p.P162P PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.P330P|PLEKHS1_ENST00000369309.1_Silent_p.P246P pleckstrin homology domain containing, family S member 1 GTATGTGTCCCTCAAAATGCC 0.453 4 105 --- --- --- --- RGS10 6001 broad.mit.edu 37 10 121275092 121275092 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:121275092C>A ENST00000392865.1 - 4 348 c.286G>T c.(286-288)Ggg>Tgg p.G96W RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369101.3_Missense_Mutation_p.G102W|RGS10_ENST00000369103.2_Missense_Mutation_p.G110W NM_002925.3 NP_002916.1 O43665 RGS10_HUMAN regulator of G-protein signaling 10 102 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|large_intestine(1)|lung(3) 6 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) CGAGACTGCCCCTCCACGTTG 0.552 4 69 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123970974 123970974 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:123970974C>A ENST00000369005.1 + 9 7374 c.7034C>A c.(7033-7035)cCc>cAc p.P2345H TACC2_ENST00000368999.1_Missense_Mutation_p.P423H|TACC2_ENST00000453444.2_Missense_Mutation_p.P2349H|TACC2_ENST00000369001.1_Missense_Mutation_p.P49H|TACC2_ENST00000358010.1_Missense_Mutation_p.P491H|TACC2_ENST00000513429.1_Missense_Mutation_p.P491H|TACC2_ENST00000369000.1_Missense_Mutation_p.P49H|TACC2_ENST00000515273.1_Missense_Mutation_p.P2349H|TACC2_ENST00000334433.3_Missense_Mutation_p.P2345H|TACC2_ENST00000369004.3_Missense_Mutation_p.P423H|TACC2_ENST00000260733.3_Missense_Mutation_p.P423H|TACC2_ENST00000360561.3_Missense_Mutation_p.P423H|TACC2_ENST00000515603.1_Missense_Mutation_p.P2300H NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2345 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGGGATGACCCCAATTTTAAC 0.473 8 510 --- --- --- --- BTBD16 118663 broad.mit.edu 37 10 124049456 124049456 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:124049456C>A ENST00000368994.2 + 6 672 c.421C>A c.(421-423)Cct>Act p.P141T BTBD16_ENST00000260723.4_Missense_Mutation_p.P140T Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 140 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) AGAAAAATCCCCTGCAAAGAG 0.428 6 290 --- --- --- --- ADAM12 8038 broad.mit.edu 37 10 127731623 127731623 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:127731623G>T ENST00000368679.4 - 18 2408 c.2099C>A c.(2098-2100)cCc>cAc p.P700H ADAM12_ENST00000368676.4_Missense_Mutation_p.P700H NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 700 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TTGCCGGATGGGGCCGCTGTC 0.627 4 43 --- --- --- --- ADAM12 8038 broad.mit.edu 37 10 127787032 127787032 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:127787032G>T ENST00000368679.4 - 10 1267 c.958C>A c.(958-960)Cca>Aca p.P320T ADAM12_ENST00000368676.4_Missense_Mutation_p.P320T NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 320 Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTCATGATTGGGGCCATGCCG 0.473 7 362 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129923869 129923869 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:129923869G>T ENST00000368654.3 - 2 438 c.63C>A c.(61-63)ccC>ccA p.P21P MKI67_ENST00000368653.3_Silent_p.P21P NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 21 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGAGGCTCAGGGGAAAGTGGG 0.527 6 189 --- --- --- --- EBF3 253738 broad.mit.edu 37 10 131640484 131640484 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr10:131640484G>T ENST00000368648.3 - 13 1313 c.1241C>A c.(1240-1242)cCc>cAc p.P414H EBF3_ENST00000355311.5_Missense_Mutation_p.P423H NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 423 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCCCAGGGTGGGGATCTGGTT 0.617 7 282 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1579410 1579410 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:1579410C>A ENST00000397374.3 - 5 756 c.629G>T c.(628-630)cGg>cTg p.R210L DUSP8_ENST00000331588.4_Missense_Mutation_p.R210L|DUSP8_ENST00000528778.1_5'UTR NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 210 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GATGGGGACCCGCATGAAGCG 0.577 4 167 --- --- --- --- ZNF195 7748 broad.mit.edu 37 11 3381267 3381267 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:3381267C>A ENST00000354599.6 - 4 859 c.755G>T c.(754-756)gGg>gTg p.G252V ZNF195_ENST00000399602.4_Missense_Mutation_p.G324V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G256V|ZNF195_ENST00000005082.9_Missense_Mutation_p.G301V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G256V|ZNF195_ENST00000526601.1_Missense_Mutation_p.G305V NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) GTAATGTTCCCCTCCGGCATA 0.388 6 370 --- --- --- --- RRM1 6240 broad.mit.edu 37 11 4144501 4144501 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:4144501C>A ENST00000300738.5 + 12 1411 c.1207C>A c.(1207-1209)Ccg>Acg p.P403T RRM1_ENST00000423050.2_Missense_Mutation_p.P306T|RRM1_ENST00000537197.1_Missense_Mutation_p.P65T|RRM1_ENST00000534285.1_Missense_Mutation_p.P181T|RRM1_ENST00000528470.1_3'UTR NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 403 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) AACAGGCACCCCGTATATGCT 0.463 7 202 --- --- --- --- RRM1 6240 broad.mit.edu 37 11 4148347 4148347 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:4148347C>A ENST00000300738.5 + 14 1757 c.1553C>A c.(1552-1554)cCt>cAt p.P518H RRM1_ENST00000423050.2_Missense_Mutation_p.P421H|RRM1_ENST00000537197.1_Missense_Mutation_p.P180H|RRM1_ENST00000534285.1_Missense_Mutation_p.P296H NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 518 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) ATGAGATACCCTTTTGAGAGT 0.458 6 297 --- --- --- --- OR52I1 390037 broad.mit.edu 37 11 4615305 4615305 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:4615305C>A ENST00000450052.2 + 2 109 c.109C>A c.(109-111)Cct>Act p.P37T OR52I1_ENST00000530443.2_Missense_Mutation_p.P13T Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGGAAACCCCTGCCTCCTT 0.473 6 382 --- --- --- --- HBB 3043 broad.mit.edu 37 11 5247873 5247873 + Missense_Mutation SNP C C A rs33991993 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:5247873C>A ENST00000335295.4 - 2 298 c.249G>T c.(247-249)aaG>aaT p.K83N NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta Not glycated. K -> M (in Helsinki; O(2) affinity up).|K -> N (in Providence). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) CAAAGGTGCCCTTGAGGTTGT 0.537 Sickle Cell Trait 6 142 --- --- --- --- OR56B1 387748 broad.mit.edu 37 11 5758698 5758698 + Missense_Mutation SNP C C A rs148131819 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:5758698C>A ENST00000317121.3 + 1 1018 c.952C>A c.(952-954)Ctt>Att p.L318I TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GCTGTTTGCCCTTACAAAAGA 0.408 8 375 --- --- --- --- OR52N4 390072 broad.mit.edu 37 11 5776301 5776301 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:5776301G>T ENST00000317254.3 + 1 379 c.331G>T c.(331-333)Ggg>Tgg p.G111W TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CACCTTCACAGGGATGGAGTC 0.478 6 246 --- --- --- --- DENND5A 23258 broad.mit.edu 37 11 9182364 9182364 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:9182364C>A ENST00000328194.3 - 12 2652 c.2332G>T c.(2332-2334)Ggg>Tgg p.G778W DENND5A_ENST00000527700.1_Missense_Mutation_p.G121W|DENND5A_ENST00000530044.1_Missense_Mutation_p.G778W NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 778 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TCCCCATGCCCTAGCTCCACA 0.498 5 169 --- --- --- --- DENND5A 23258 broad.mit.edu 37 11 9191477 9191477 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:9191477G>T ENST00000328194.3 - 10 2397 c.2077C>A c.(2077-2079)Cct>Act p.P693T DENND5A_ENST00000527700.1_Missense_Mutation_p.P36T|DENND5A_ENST00000530044.1_Missense_Mutation_p.P693T NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 693 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CACTGGGCAGGGGCATTCCTT 0.433 6 352 --- --- --- --- IPO7 10527 broad.mit.edu 37 11 9430093 9430093 + Missense_Mutation SNP G G T rs148503390 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:9430093G>T ENST00000379719.3 + 3 369 c.227G>T c.(226-228)gGg>gTg p.G76V NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 76 Importin N-terminal. interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ACAGCACCAGGGGATATATCC 0.368 5 191 --- --- --- --- SBF2 81846 broad.mit.edu 37 11 9867158 9867158 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:9867158G>T ENST00000256190.8 - 24 3201 c.3064C>A c.(3064-3066)Cca>Aca p.P1022T RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1022 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) ATTATTTGTGGGGTAGTTTGT 0.383 7 297 --- --- --- --- PIK3C2A 5286 broad.mit.edu 37 11 17111359 17111359 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:17111359G>T ENST00000265970.7 - 32 4986 c.4987C>A c.(4987-4989)Ctg>Atg p.L1663M PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1283M|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1663 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TTCAAAGGCAGGGTTACTCCA 0.423 7 513 --- --- --- --- MRGPRX2 117194 broad.mit.edu 37 11 19077926 19077926 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:19077926C>A ENST00000329773.2 - 2 111 c.24G>T c.(22-24)tgG>tgT p.W8C NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 8 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 TTTCTGTTCCCCAGGCCGGGG 0.502 9 517 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20070636 20070636 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:20070636G>T ENST00000396085.1 + 15 4626 c.4265G>T c.(4264-4266)gGg>gTg p.G1422V NAV2_ENST00000527559.2_Missense_Mutation_p.G1374V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1422V|NAV2_ENST00000311043.8_Missense_Mutation_p.G508V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1376V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Missense_Mutation_p.G508V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1358V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1445V NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1445 Ser-rich. 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 AGCAGTGGAGGGGTCCCCAGC 0.567 6 226 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20104694 20104694 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:20104694C>A ENST00000396085.1 + 27 5837 c.5476C>A c.(5476-5478)Cca>Aca p.P1826T NAV2_ENST00000527559.2_Missense_Mutation_p.P1811T|NAV2_ENST00000349880.4_Missense_Mutation_p.P1823T|NAV2_ENST00000311043.8_Missense_Mutation_p.P887T|NAV2_ENST00000540292.1_Missense_Mutation_p.P1813T|NAV2_ENST00000533917.1_Missense_Mutation_p.P887T|NAV2_ENST00000360655.4_Missense_Mutation_p.P1759T|NAV2_ENST00000396087.3_Missense_Mutation_p.P1882T NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1882 Poly-Lys. 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 AGGTTCCACCCCACTGCTGAG 0.488 7 171 --- --- --- --- ANO5 203859 broad.mit.edu 37 11 22296150 22296150 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:22296150C>A ENST00000324559.8 + 20 2588 c.2271C>A c.(2269-2271)ccC>ccA p.P757P ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 757 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACATCATTCCCCGTCTAGTTT 0.358 8 255 --- --- --- --- EXT2 2132 broad.mit.edu 37 11 44146521 44146521 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:44146521C>A ENST00000395673.3 + 5 1081 c.1025C>A c.(1024-1026)cCa>cAa p.P342Q EXT2_ENST00000358681.4_Missense_Mutation_p.P309Q|EXT2_ENST00000533608.1_Missense_Mutation_p.P309Q|EXT2_ENST00000343631.3_Missense_Mutation_p.P309Q NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 309 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTCGATTACCCACAGGTGCTA 0.488 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 5 135 --- --- --- --- PRDM11 56981 broad.mit.edu 37 11 45245859 45245859 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:45245859G>T ENST00000263765.4 + 8 1185 c.936G>T c.(934-936)caG>caT p.Q312H PRDM11_ENST00000424263.2_Missense_Mutation_p.Q278H|PRDM11_ENST00000530656.1_Missense_Mutation_p.Q312H|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA Q9NQV5 PRD11_HUMAN PR domain containing 11 312 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 TGCTGAGACAGGGCAAAAGTC 0.507 8 345 --- --- --- --- NR1H3 10062 broad.mit.edu 37 11 47281462 47281462 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:47281462G>T ENST00000467728.1 + 2 1402 c.164G>T c.(163-165)gGg>gTg p.G55V NR1H3_ENST00000405576.1_Missense_Mutation_p.G10V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.G10V|NR1H3_ENST00000481889.2_Missense_Mutation_p.G10V|NR1H3_ENST00000405853.3_Missense_Mutation_p.G55V|NR1H3_ENST00000441012.2_Missense_Mutation_p.G55V|NR1H3_ENST00000407404.1_Missense_Mutation_p.G55V Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 55 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 GGTACTGCAGGGGTGGGGCTG 0.657 OREG0020956 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 31 --- --- --- --- MADD 8567 broad.mit.edu 37 11 47296695 47296695 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:47296695C>A ENST00000342922.4 + 3 1001 c.644C>A c.(643-645)cCt>cAt p.P215H MADD_ENST00000395344.3_Missense_Mutation_p.P215H|MADD_ENST00000395336.3_Missense_Mutation_p.P215H|MADD_ENST00000406482.1_Missense_Mutation_p.P215H|MADD_ENST00000402799.1_Missense_Mutation_p.P215H|MADD_ENST00000407859.3_Missense_Mutation_p.P215H|MADD_ENST00000402192.2_Missense_Mutation_p.P215H|MADD_ENST00000311027.5_Missense_Mutation_p.P215H|MADD_ENST00000349238.3_Missense_Mutation_p.P215H NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 215 DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTGGGCATCCCTCGAGGCGTA 0.498 5 172 --- --- --- --- MADD 8567 broad.mit.edu 37 11 47299747 47299747 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:47299747G>T ENST00000342922.4 + 6 1484 c.1127G>T c.(1126-1128)gGg>gTg p.G376V MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.G376V|MADD_ENST00000395336.3_Missense_Mutation_p.G376V|MADD_ENST00000406482.1_Missense_Mutation_p.G376V|MADD_ENST00000402799.1_Missense_Mutation_p.G376V|MADD_ENST00000407859.3_Missense_Mutation_p.G376V|MADD_ENST00000402192.2_Missense_Mutation_p.G376V|MADD_ENST00000311027.5_Missense_Mutation_p.G376V|MADD_ENST00000349238.3_Missense_Mutation_p.G376V NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 376 DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TACATCATTGGGGTTCCTGCC 0.458 8 502 --- --- --- --- CELF1 10658 broad.mit.edu 37 11 47508712 47508712 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:47508712C>A ENST00000395290.2 - 2 269 c.260G>T c.(259-261)gGg>gTg p.G87V CELF1_ENST00000358597.3_Splice_Site_p.G87V|CELF1_ENST00000531165.1_Splice_Site_p.G114V|CELF1_ENST00000532048.1_Splice_Site_p.G114V|CELF1_ENST00000395292.2_Splice_Site_p.G87V|CELF1_ENST00000310513.5_Splice_Site_p.G87V|CELF1_ENST00000361904.3_Splice_Site_p.G87V NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 87 RRM 1. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 CTTTCTTACCCCTGGGAGGAC 0.388 6 305 --- --- --- --- OR4C12 283093 broad.mit.edu 37 11 50003461 50003461 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:50003461G>T ENST00000335238.4 - 1 610 c.577C>A c.(577-579)Ctt>Att p.L193I NM_001005270.2 NP_001005270.2 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 AAGAGACCAAGGGTATGAGTG 0.408 5 151 --- --- --- --- OR5T3 390154 broad.mit.edu 37 11 56020461 56020461 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:56020461G>T ENST00000303059.3 + 1 786 c.786G>T c.(784-786)aaG>aaT p.K262N NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K262N(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) ATTCTGCTAAGGGAAGGCAAA 0.413 8 470 --- --- --- --- TNKS1BP1 85456 broad.mit.edu 37 11 57077242 57077242 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:57077242G>T ENST00000532437.1 - 5 3254 c.2943C>A c.(2941-2943)ccC>ccA p.P981P TNKS1BP1_ENST00000358252.3_Silent_p.P981P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 981 Acidic. 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) CAGAGCTCAGGGGTCTCGTTC 0.567 8 167 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59211048 59211048 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:59211048C>A ENST00000302030.2 + 1 432 c.407C>A c.(406-408)cCc>cAc p.P136H NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CTTCTCTACCCCACTATCATG 0.542 11 505 --- --- --- --- PPP1R32 220004 broad.mit.edu 37 11 61254627 61254627 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:61254627G>T ENST00000338608.2 + 11 1083 c.958G>T c.(958-960)Ggg>Tgg p.G320W PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300W NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 320 p.G320R(1) GGAGCCCACAGGGTTCAGCCT 0.562 6 354 --- --- --- --- BEST1 7439 broad.mit.edu 37 11 61730039 61730039 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:61730039C>A ENST00000449131.2 + 9 1319 c.1233C>A c.(1231-1233)ccC>ccA p.P411P BEST1_ENST00000378042.3_Silent_p.P384P|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378043.4_Silent_p.P471P|BEST1_ENST00000301774.9_Silent_p.P99P NM_001139443.1 NP_001132915.1 O76090 BEST1_HUMAN bestrophin 1 471 response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 CACAGACGCCCCTCAGCCCCA 0.552 5 84 --- --- --- --- SCGB2A2 4250 broad.mit.edu 37 11 62038408 62038408 + Silent SNP G G C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62038408G>C ENST00000525380.1 + 2 170 c.111G>C c.(109-111)gtG>gtC p.V37V SCGB2A2_ENST00000227918.2_Silent_p.V37V Q13296 SG2A2_HUMAN secretoglobin, family 2A, member 2 37 extracellular region steroid binding p.V37V(1) large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 ATCCACAAGTGTCTAAGACTG 0.418 55 128 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62287590 62287590 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62287590G>T ENST00000378024.4 - 5 14573 c.14299C>A c.(14299-14301)Cct>Act p.P4767T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4767 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCACATCAGGGGTGTTGATG 0.517 7 335 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62292624 62292624 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62292624G>T ENST00000378024.4 - 5 9539 c.9265C>A c.(9265-9267)Ccc>Acc p.P3089T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3089 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GAGATCTTGGGGGCTTTGATG 0.458 12 543 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62294419 62294419 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62294419C>A ENST00000378024.4 - 5 7744 c.7470G>T c.(7468-7470)agG>agT p.R2490S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2490 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTTGGGGCCCCTGATGTTCA 0.478 6 300 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62294886 62294886 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62294886G>T ENST00000378024.4 - 5 7277 c.7003C>A c.(7003-7005)Cca>Aca p.P2335T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2335 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCAGCTTTGGGGCAGAAACA 0.458 8 476 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62295786 62295786 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62295786G>T ENST00000378024.4 - 5 6377 c.6103C>A c.(6103-6105)Cca>Aca p.P2035T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2035 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCACATCTGGGGCATCAATG 0.493 10 682 --- --- --- --- EML3 256364 broad.mit.edu 37 11 62375763 62375763 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:62375763C>A ENST00000394773.2 - 10 1423 c.1116G>T c.(1114-1116)caG>caT p.Q372H EML3_ENST00000529309.1_Missense_Mutation_p.Q372H|EML3_ENST00000494176.2_Missense_Mutation_p.Q344H|EML3_ENST00000531557.1_Missense_Mutation_p.Q155H|EML3_ENST00000278845.4_Missense_Mutation_p.Q373H NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 372 cytoplasm|microtubule protein binding p.Q372H(1) biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GAAAGGCACCCTGATCCTGAA 0.532 6 259 --- --- --- --- RARRES3 5920 broad.mit.edu 37 11 63312350 63312350 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:63312350C>A ENST00000439013.2 + 3 429 c.376C>A c.(376-378)Cgc>Agc p.R126S RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R126S|RARRES3_ENST00000255688.3_Missense_Mutation_p.R126S Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 126 lipid catabolic process|negative regulation of cell proliferation hydrolase activity p.R126S(1) kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 TGGCAAGTCCCGCTGTAAACA 0.517 5 287 --- --- --- --- PLA2G16 11145 broad.mit.edu 37 11 63381507 63381507 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:63381507C>A ENST00000323646.5 - 0 334 PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_De_novo_Start_OutOfFrame NM_007069.3 NP_009000.2 P53816 PAG16_HUMAN phospholipase A2, group XVI lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 GGTGTGGACCCTCAAGGCCAG 0.627 5 119 --- --- --- --- BAD 572 broad.mit.edu 37 11 64037705 64037705 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:64037705C>A ENST00000394532.3 - 3 753 c.483G>T c.(481-483)agG>agT p.R161S BAD_ENST00000309032.3_Missense_Mutation_p.R161S|BAD_ENST00000544785.1_Missense_Mutation_p.G98W NM_004322.3 NP_004313.1 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 161 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 CGGAGCTTCCCCTGCCCAAGT 0.627 5 74 --- --- --- --- GPR137 56834 broad.mit.edu 37 11 64055537 64055537 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:64055537G>T ENST00000539851.1 + 5 1101 c.634G>T c.(634-636)Ggg>Tgg p.G212W GPR137_ENST00000313074.3_Splice_Site_p.G212W|GPR137_ENST00000411458.1_Splice_Site_p.G270W|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Splice_Site_p.G212W NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 212 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CCTGTGCCAGGGGACCAGTGT 0.642 5 112 --- --- --- --- NRXN2 9379 broad.mit.edu 37 11 64427831 64427831 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:64427831C>A ENST00000265459.6 - 11 2823 c.2362G>T c.(2362-2364)Ggg>Tgg p.G788W NRXN2_ENST00000377559.3_Missense_Mutation_p.G757W|NRXN2_ENST00000377551.1_Missense_Mutation_p.G788W|NRXN2_ENST00000409571.1_Missense_Mutation_p.G781W NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 788 Laminin G-like 4. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TTCATCTGCCCCCCATCCAGC 0.617 5 115 --- --- --- --- PYGM 5837 broad.mit.edu 37 11 64525943 64525943 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:64525943C>A ENST00000164139.3 - 3 788 c.390G>T c.(388-390)gcG>gcT p.A130A PYGM_ENST00000377432.3_Intron NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 130 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGCCCAGCCCCGCATCCTCCT 0.652 5 163 --- --- --- --- SF1 7536 broad.mit.edu 37 11 64537846 64537846 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:64537846C>A ENST00000377390.3 - 4 608 c.271G>T c.(271-273)Ggg>Tgg p.G91W SF1_ENST00000377394.3_Missense_Mutation_p.G91W|SF1_ENST00000377387.1_Missense_Mutation_p.G216W|SF1_ENST00000227503.9_Missense_Mutation_p.G91W|SF1_ENST00000433274.2_Missense_Mutation_p.G65W|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.G91W NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 91 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 AGCCGCTTCCCCTCGCTATTG 0.532 5 188 --- --- --- --- ATG2A 23130 broad.mit.edu 37 11 64676776 64676776 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:64676776G>T ENST00000421419.2 - 15 2285 c.2171C>A c.(2170-2172)cCc>cAc p.P724H ATG2A_ENST00000377264.3_Missense_Mutation_p.P724H Q2TAZ0 ATG2A_HUMAN autophagy related 2A 724 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AGTGCTCTTGGGGTCCAGGGC 0.617 4 103 --- --- --- --- LTBP3 4054 broad.mit.edu 37 11 65320672 65320672 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:65320672G>T ENST00000301873.5 - 5 1294 c.1026C>A c.(1024-1026)ccC>ccA p.P342P LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P342P NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 342 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 TGTAGCCCTGGGGACAGTCAG 0.627 5 132 --- --- --- --- SSSCA1 10534 broad.mit.edu 37 11 65339074 65339074 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:65339074C>A ENST00000531405.1 + 3 594 c.358C>A c.(358-360)Ctc>Atc p.L120I SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.L157I O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 157 Pro-rich. cell division|mitosis protein binding kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 ACAGACAGCCCTCTTGCAGAA 0.617 4 104 --- --- --- --- EHBP1L1 254102 broad.mit.edu 37 11 65350073 65350073 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:65350073C>A ENST00000309295.4 + 9 2195 c.1930C>A c.(1930-1932)Cca>Aca p.P644T NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 644 Glu-rich. central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CATAGAGACCCCAGGGACAGA 0.542 4 96 --- --- --- --- NPAS4 266743 broad.mit.edu 37 11 66192519 66192519 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:66192519C>A ENST00000311034.2 + 7 2334 c.2158C>A c.(2158-2160)Cca>Aca p.P720T NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 720 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TCTCTCTACCCCAGATCCCAG 0.582 6 188 --- --- --- --- CCS 9973 broad.mit.edu 37 11 66367007 66367007 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:66367007C>A ENST00000533244.1 + 4 769 c.328C>A c.(328-330)Cct>Act p.P110T CCS_ENST00000310190.4_Missense_Mutation_p.P91T NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 110 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 ACAGCTGACCCCTGAGCGCTG 0.612 4 38 --- --- --- --- SSH3 54961 broad.mit.edu 37 11 67072366 67072366 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:67072366G>T ENST00000308127.4 + 3 405 c.227G>T c.(226-228)gGg>gTg p.G76V SSH3_ENST00000308298.7_Missense_Mutation_p.G76V|SSH3_ENST00000376757.5_Missense_Mutation_p.G76V|SSH3_ENST00000532181.1_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 76 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GAGCTCCACGGGGACCAGACA 0.622 4 48 --- --- --- --- INPPL1 3636 broad.mit.edu 37 11 71948310 71948310 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:71948310C>A ENST00000298229.2 + 26 3226 c.3022C>A c.(3022-3024)Cct>Act p.P1008T INPPL1_ENST00000538751.1_Missense_Mutation_p.P766T|INPPL1_ENST00000541756.1_Missense_Mutation_p.P766T NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1008 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGCCAGGGCCCCTGTCCCATC 0.632 5 151 --- --- --- --- RNF169 254225 broad.mit.edu 37 11 74547027 74547027 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:74547027G>T ENST00000299563.4 + 6 1392 c.1379G>T c.(1378-1380)gGg>gTg p.G460V NM_001098638.1 NP_001092108.1 Q8NCN4 RN169_HUMAN ring finger protein 169 460 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 CCTGAAATGGGGGAAGAGTTA 0.473 7 357 --- --- --- --- DGAT2 84649 broad.mit.edu 37 11 75507428 75507428 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:75507428C>A ENST00000228027.7 + 5 745 c.485C>A c.(484-486)cCc>cAc p.P162H DGAT2_ENST00000376262.3_Missense_Mutation_p.P119H NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 162 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) GGATACCACCCCCATGGTATC 0.547 6 353 --- --- --- --- TRIM49 57093 broad.mit.edu 37 11 89531568 89531568 + Silent SNP T T C rs139075721 by1000genomes TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:89531568T>C ENST00000329758.1 - 8 1417 c.1089A>G c.(1087-1089)aaA>aaG p.K363K TRIM49_ENST00000532501.2_Silent_p.K286K NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 363 B30.2/SPRY. intracellular zinc ion binding p.K363K(3) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GATTCTTCTCTTTCCGATACA 0.458 6 225 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92523311 92523311 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:92523311C>A ENST00000298047.6 + 7 4555 c.4538C>A c.(4537-4539)cCt>cAt p.P1513H FAT3_ENST00000409404.2_Missense_Mutation_p.P1513H|FAT3_ENST00000525166.1_Missense_Mutation_p.P1363H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1513 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGGATTGACCCTAGCACTGGC 0.488 TCGA Ovarian(4;0.039) 6 264 --- --- --- --- GPR83 10888 broad.mit.edu 37 11 94134379 94134379 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:94134379G>T ENST00000243673.2 - 1 206 c.35C>A c.(34-36)cCc>cAc p.P12H GPR83_ENST00000539203.2_Missense_Mutation_p.P12H NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 12 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCGCACCAAGGGGAGGAGACA 0.706 5 59 --- --- --- --- MMP1 4312 broad.mit.edu 37 11 102662178 102662178 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:102662178G>T ENST00000315274.6 - 8 1149 c.1082C>A c.(1081-1083)cCc>cAc p.P361H WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 361 Hemopexin-like 2. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) GATGTCCTTGGGGTATCCGTG 0.448 7 535 --- --- --- --- MMP13 4322 broad.mit.edu 37 11 102820888 102820888 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:102820888G>T ENST00000260302.3 - 6 896 c.868C>A c.(868-870)Ctt>Att p.L290I MMP13_ENST00000340273.4_Missense_Mutation_p.L290I NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 290 Hemopexin-like 1. 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) ATGGCATCAAGGGATAAGGAA 0.433 8 312 --- --- --- --- MMP13 4322 broad.mit.edu 37 11 102820932 102820932 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:102820932G>T ENST00000260302.3 - 6 852 c.824C>A c.(823-825)cCt>cAt p.P275H MMP13_ENST00000340273.4_Missense_Mutation_p.P275H NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 275 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) TGGATGTTTAGGGTTGGGGTC 0.448 6 370 --- --- --- --- CARD17 440068 broad.mit.edu 37 11 104971436 104971436 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:104971436C>A ENST00000375707.1 - 2 94 c.78G>T c.(76-78)ctG>ctT p.L26L CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron NM_001007232.1 NP_001007233.1 caspase recruitment domain family, member 17 breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 6 ATAATTCACCCAGTAAGCCAT 0.438 7 439 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118501983 118501983 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:118501983G>T ENST00000361417.2 + 8 2298 c.1887G>T c.(1885-1887)ggG>ggT p.G629G PHLDB1_ENST00000356063.5_Silent_p.G629G|PHLDB1_ENST00000534672.1_3'UTR NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 629 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGGCTGATGGGGGACCTGAGG 0.667 7 238 --- --- --- --- ACRV1 56 broad.mit.edu 37 11 125547733 125547733 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:125547733C>A ENST00000533904.1 - 2 854 c.512G>T c.(511-513)gGg>gTg p.G171V ACRV1_ENST00000530048.1_Missense_Mutation_p.G116V|ACRV1_ENST00000348856.3_Missense_Mutation_p.G71V|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76V|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101V|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000315608.3_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.G101V P26436 ASPX_HUMAN acrosomal vesicle protein 1 171 9 X 5 AA repeats of [SV]-G-E-Q-[PSA]. multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) AGCCTGTTCCCCTGAAGCGTG 0.542 5 137 --- --- --- --- SRPR 6734 broad.mit.edu 37 11 126135967 126135967 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:126135967C>A ENST00000332118.6 - 8 1096 c.942G>T c.(940-942)aaG>aaT p.K314N SRPR_ENST00000532259.1_Missense_Mutation_p.K286N NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 314 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) CCAGTGTTCCCTTGGTCGCAC 0.493 6 360 --- --- --- --- ARHGAP32 9743 broad.mit.edu 37 11 128839338 128839338 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:128839338C>A ENST00000310343.9 - 22 5727 c.5728G>T c.(5728-5730)Ggg>Tgg p.G1910W ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1561W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1561W NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1910 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TCTGGAATCCCTTTGGACCCA 0.502 5 172 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752403 129752403 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr11:129752403C>A ENST00000446488.3 - 9 1128 c.1025G>T c.(1024-1026)gGg>gTg p.G342V NFRKB_ENST00000304521.5_Missense_Mutation_p.G342V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G367V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G342V NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 342 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) AGGTGCGACCCCTTCAGTACT 0.468 6 249 --- --- --- --- WNK1 65125 broad.mit.edu 37 12 978200 978200 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:978200C>A ENST00000537687.1 + 9 3951 c.3308C>A c.(3307-3309)cCc>cAc p.P1103H WNK1_ENST00000574564.1_Missense_Mutation_p.P402H|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1188H NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 849 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTCTGTTTCCCCCAAGGAACC 0.458 9 780 --- --- --- --- RAD52 5893 broad.mit.edu 37 12 1039296 1039296 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:1039296C>A ENST00000539046.1 - 0 82 RAD52_ENST00000430095.2_Missense_Mutation_p.E67D|RAD52_ENST00000545564.1_Missense_Mutation_p.E67D|RAD52_ENST00000544742.1_Missense_Mutation_p.E67D|RAD52_ENST00000536177.1_Missense_Mutation_p.E67D|RAD52_ENST00000541619.1_Missense_Mutation_p.E67D|RAD52_ENST00000358495.3_Missense_Mutation_p.E67D P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) CCCGATGACCCTCAATGTAGC 0.398 Homologous recombination 4 111 --- --- --- --- NCAPD2 9918 broad.mit.edu 37 12 6640148 6640148 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:6640148C>A ENST00000315579.5 + 31 4825 c.4026C>A c.(4024-4026)ccC>ccA p.P1342P NCAPD2_ENST00000545962.1_Silent_p.P1297P NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1342 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding p.P1342P(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 CACCAGAGCCCCGCCGTACTA 0.483 5 118 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6710586 6710586 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:6710586C>A ENST00000309577.6 - 6 831 c.668G>T c.(667-669)gGg>gTg p.G223V CHD4_ENST00000544040.1_Missense_Mutation_p.G216V|CHD4_ENST00000544484.1_Missense_Mutation_p.G220V|CHD4_ENST00000357008.2_Missense_Mutation_p.G223V Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 223 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CACTGATGCCCCAGAACTGCC 0.562 7 324 --- --- --- --- CD163 9332 broad.mit.edu 37 12 7635313 7635313 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:7635313C>A ENST00000359156.4 - 14 3375 c.3173G>T c.(3172-3174)gGg>gTg p.G1058V CD163_ENST00000396620.3_Missense_Mutation_p.G1091V|CD163_ENST00000432237.2_Missense_Mutation_p.G1058V|CD163_ENST00000541972.1_Missense_Mutation_p.G1046V NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1058 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 CAGAACAACCCCAAGGATCCC 0.413 6 244 --- --- --- --- SLCO1B1 10599 broad.mit.edu 37 12 21391915 21391915 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:21391915G>T ENST00000256958.2 + 15 1964 c.1868G>T c.(1867-1869)aGg>aTg p.R623M NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 623 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTCTACAGAAGGGTCTACTTG 0.264 5 188 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27933756 27933756 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:27933756C>A ENST00000381271.2 + 1 804 c.493C>A c.(493-495)Cag>Aag p.Q165K RP11-860B13.1_ENST00000545904.1_RNA NM_020782.1 NP_065833.1 kelch-like family member 42 GTGCAAGCCCCAGTTCCACCT 0.662 4 99 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29463970 29463970 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:29463970G>T ENST00000536681.3 + 7 1024 c.778G>T c.(778-780)Ggg>Tgg p.G260W RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Missense_Mutation_p.G163W|FAR2_ENST00000182377.4_Missense_Mutation_p.G260W NM_001271783.1|NM_001271784.1 NP_001258712.1|NP_001258713.1 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 GACTGGGAAAGGGTTTCTTCG 0.408 5 226 --- --- --- --- OVCH1 341350 broad.mit.edu 37 12 29614858 29614858 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:29614858G>T ENST00000318184.5 - 19 2208 c.2209C>A c.(2209-2211)Cat>Aat p.H737N OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 737 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CCTCCTGGATGGGCAGAATAG 0.458 5 226 --- --- --- --- ADAMTS20 80070 broad.mit.edu 37 12 43847793 43847793 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:43847793C>A ENST00000389420.3 - 12 1676 c.1677G>T c.(1675-1677)tgG>tgT p.W559C ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W559C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 559 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCCATGGTCCCCATTCACCAT 0.413 4 44 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49415605 49415605 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:49415605G>T ENST00000301067.7 - 54 16571 c.16572C>A c.(16570-16572)ccC>ccA p.P5524P NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACAGTGGCAGGGGATCTTGT 0.507 4 96 --- --- --- --- DIP2B 57609 broad.mit.edu 37 12 51126155 51126155 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:51126155G>T ENST00000301180.5 + 32 3851 c.3817G>T c.(3817-3819)Ggg>Tgg p.G1273W NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1273 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 GCAGACCAGAGGGATCAACCT 0.537 5 183 --- --- --- --- SCN8A 6334 broad.mit.edu 37 12 52145217 52145217 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:52145217C>A ENST00000354534.6 + 14 2388 c.2210C>A c.(2209-2211)cCc>cAc p.P737H SCN8A_ENST00000550891.1_Missense_Mutation_p.P737H|SCN8A_ENST00000545061.1_Missense_Mutation_p.P737H NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GAGTGCCACCCCTACTGGATA 0.428 6 279 --- --- --- --- AAAS 8086 broad.mit.edu 37 12 53709129 53709129 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:53709129G>T ENST00000209873.4 - 4 554 c.389C>A c.(388-390)cCc>cAc p.P130H AAAS_ENST00000394384.3_Missense_Mutation_p.P130H|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Intron NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 130 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 AGACAGATGGGGGAACAGGGA 0.582 4 50 --- --- --- --- MAP3K12 7786 broad.mit.edu 37 12 53876438 53876438 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:53876438C>A ENST00000267079.2 - 12 2275 c.2050G>T c.(2050-2052)Ggg>Tgg p.G684W MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717W NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 684 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CCTGAGGTCCCTTCCCTTCCA 0.637 6 261 --- --- --- --- CBX5 23468 broad.mit.edu 37 12 54639979 54639979 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:54639979C>A ENST00000209875.4 - 4 481 c.345G>T c.(343-345)cgG>cgT p.R115R CBX5_ENST00000550411.1_Silent_p.R115R|CBX5_ENST00000439541.2_Silent_p.R115R NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 115 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TCTCAAAGCCCCGAGCGATAT 0.413 7 371 --- --- --- --- OR6C1 390321 broad.mit.edu 37 12 55715238 55715238 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:55715238C>A ENST00000379668.2 + 1 893 c.855C>A c.(853-855)ccC>ccA p.P285P NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TGATGAACCCCTTTATTTACA 0.408 6 335 --- --- --- --- OR6C4 341418 broad.mit.edu 37 12 55945163 55945163 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:55945163C>A ENST00000394256.2 + 1 181 c.153C>A c.(151-153)ccC>ccA p.P51P RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TACTAGACCCCCACCTCCAGA 0.418 9 596 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56525301 56525301 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:56525301G>T ENST00000394048.5 + 6 1019 c.755G>T c.(754-756)gGg>gTg p.G252V ESYT1_ENST00000267113.4_Missense_Mutation_p.G252V|ESYT1_ENST00000541590.1_Missense_Mutation_p.G252V NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 252 integral to membrane p.G252V(1) breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CCACTCATTGGGGACCTTCCC 0.527 7 405 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56527607 56527607 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:56527607C>A ENST00000394048.5 + 13 1687 c.1423C>A c.(1423-1425)Ccg>Acg p.P475T ESYT1_ENST00000267113.4_Missense_Mutation_p.P475T|ESYT1_ENST00000541590.1_Missense_Mutation_p.P475T NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 475 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 ACCAGATCCCCCGTCAGCTGC 0.567 5 189 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56531371 56531371 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:56531371C>A ENST00000394048.5 + 18 2291 c.2027C>A c.(2026-2028)cCc>cAc p.P676H ESYT1_ENST00000267113.4_Missense_Mutation_p.P686H|ESYT1_ENST00000541590.1_Missense_Mutation_p.P686H NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 676 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AAGTCAGACCCCTATGTCAAA 0.512 7 332 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56743919 56743919 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:56743919C>A ENST00000314128.4 - 13 1194 c.1171G>T c.(1171-1173)Ggg>Tgg p.G391W STAT2_ENST00000557235.1_Missense_Mutation_p.G387W|STAT2_ENST00000418572.2_Missense_Mutation_p.G387W P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 391 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGACTCTGCCCCTTCTCGGGG 0.408 6 271 --- --- --- --- BAZ2A 11176 broad.mit.edu 37 12 56997322 56997322 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:56997322C>A ENST00000179765.5 - 18 3310 c.3111G>T c.(3109-3111)agG>agT p.R1037S BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1067S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1039S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1069S Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1069 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 CTCTTCGACCCCTGCGGCCAG 0.493 7 293 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57109690 57109690 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:57109690G>T ENST00000454682.1 - 3 5905 c.5624C>A c.(5623-5625)cCc>cAc p.P1875H NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P722H|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 12 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTGGCAGAGGGGGTTGGGAC 0.572 T BCL6 NHL 6 174 --- --- --- --- INHBE 83729 broad.mit.edu 37 12 57849951 57849951 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:57849951C>A ENST00000266646.2 + 2 589 c.373C>A c.(373-375)Cgc>Agc p.R125S INHBE_ENST00000551553.1_3'UTR NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 125 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 GTACCATGCCCGCCTGTGGCT 0.602 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 245 --- --- --- --- AGAP2 116986 broad.mit.edu 37 12 58126738 58126738 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:58126738C>A ENST00000257897.3 - 6 651 c.566G>T c.(565-567)cGg>cTg p.R189L AGAP2_ENST00000547588.1_Missense_Mutation_p.R525L NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 525 Interactions with HOMER1 and NF2 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 TCCCACCACCCGAGGGGAGGA 0.547 5 358 --- --- --- --- PTPRR 5801 broad.mit.edu 37 12 71095060 71095060 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:71095060C>A ENST00000283228.2 - 7 1503 c.1051G>T c.(1051-1053)Ggg>Tgg p.G351W PTPRR_ENST00000342084.4_Missense_Mutation_p.G239W|PTPRR_ENST00000440835.2_Missense_Mutation_p.G106W|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106W|PTPRR_ENST00000378778.1_Missense_Mutation_p.G145W NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 351 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) TCAATGTTCCCCAAGCTACTC 0.428 5 169 --- --- --- --- LGR5 8549 broad.mit.edu 37 12 71898436 71898436 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:71898436C>A ENST00000266674.5 + 2 566 c.255C>A c.(253-255)ccC>ccA p.P85P LGR5_ENST00000536515.1_Silent_p.P85P|LGR5_ENST00000540815.2_Silent_p.P85P O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 85 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TCCCGAATCCCCTGCCCAGTC 0.502 8 484 --- --- --- --- TRHDE 29953 broad.mit.edu 37 12 72667052 72667052 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:72667052G>T ENST00000261180.4 + 1 590 c.494G>T c.(493-495)gGg>gTg p.G165V TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 165 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACCTTCTCCGGGGAGGTCAAC 0.652 4 78 --- --- --- --- NAP1L1 4673 broad.mit.edu 37 12 76443026 76443026 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:76443026C>A ENST00000261182.8 - 14 1580 c.1094G>T c.(1093-1095)gGg>gTg p.G365V NAP1L1_ENST00000393263.3_Missense_Mutation_p.G365V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G297V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G182V|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G302V|NAP1L1_ENST00000549596.1_3'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G323V NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 365 Asp/Glu-rich (acidic). DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) TTCTTCTTCCCCTTCCTATAT 0.343 6 171 --- --- --- --- ZDHHC17 23390 broad.mit.edu 37 12 77222206 77222206 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:77222206C>A ENST00000426126.2 + 10 1726 c.1077C>A c.(1075-1077)ccC>ccA p.P359P ZDHHC17_ENST00000334822.5_Silent_p.P359P NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 359 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 GTGCATTGCCCCTTGGGATAT 0.313 9 678 --- --- --- --- SYT1 6857 broad.mit.edu 37 12 79837937 79837937 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:79837937C>A ENST00000261205.4 + 10 1670 c.1013C>A c.(1012-1014)cCc>cAc p.P338H SYT1_ENST00000393240.3_Missense_Mutation_p.P338H|SYT1_ENST00000552744.1_Missense_Mutation_p.P338H|SYT1_ENST00000457153.2_Missense_Mutation_p.P335H|RP1-78O14.1_ENST00000550268.1_lincRNA NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 338 C2 2.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 ACACTTAACCCCTACTACAAT 0.363 6 326 --- --- --- --- CCER1 196477 broad.mit.edu 37 12 91347703 91347703 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:91347703G>T ENST00000358859.2 - 1 1250 c.817C>A c.(817-819)Ccg>Acg p.P273T CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 accAGCAGCGGGGCAAGAGAC 0.522 8 587 --- --- --- --- SLC25A3 5250 broad.mit.edu 37 12 98989599 98989599 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:98989599C>A ENST00000188376.5 + 2 606 c.252C>A c.(250-252)ccC>ccA p.P84P SLC25A3_ENST00000548847.1_Silent_p.P84P|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000549338.1_Silent_p.P84P|SLC25A3_ENST00000401722.3_Silent_p.P84P|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000552981.1_Silent_p.P84P|SLC25A3_ENST00000547534.1_Silent_p.P84P NM_002635.3|NM_213611.2 NP_002626.1|NP_998776.1 Q00325 MPCP_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 85 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1) 16 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) CTGTGGTTCCCCTGGATTTAG 0.408 7 203 --- --- --- --- GNPTAB 79158 broad.mit.edu 37 12 102158274 102158274 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:102158274G>T ENST00000299314.7 - 13 2683 c.2421C>A c.(2419-2421)ccC>ccA p.P807P NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 807 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 CCAAGTCCAGGGGTGGATTCT 0.458 7 323 --- --- --- --- NUP37 79023 broad.mit.edu 37 12 102512208 102512208 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:102512208C>A ENST00000552283.1 - 2 228 c.89G>T c.(88-90)gGg>gTg p.G30V NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.G30V Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 30 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 TCCTGAATCCCCATTCTCAAA 0.408 6 328 --- --- --- --- SART3 9733 broad.mit.edu 37 12 108931915 108931915 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:108931915G>T ENST00000228284.3 - 8 1361 c.1127C>A c.(1126-1128)cCc>cAc p.P376H SART3_ENST00000431469.2_Missense_Mutation_p.P376H NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 376 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 AACTGTCCAGGGGCAGTTTCT 0.418 Porokeratosis 7 196 --- --- --- --- USP30 84749 broad.mit.edu 37 12 109522779 109522779 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:109522779C>A ENST00000257548.5 + 12 1283 c.1190C>A c.(1189-1191)cCc>cAc p.P397H USP30_ENST00000392784.2_Missense_Mutation_p.P366H NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 397 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 CCAGGGGCCCCCAAAACACAG 0.493 8 546 --- --- --- --- ATP2A2 488 broad.mit.edu 37 12 110771909 110771909 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:110771909G>T ENST00000395494.2 + 10 1862 c.1299G>T c.(1297-1299)aaG>aaT p.K433N ATP2A2_ENST00000308664.6_Missense_Mutation_p.K460N|ATP2A2_ENST00000539276.2_Missense_Mutation_p.K460N P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 460 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CCGAATTGAAGGGTCTTTCTA 0.388 6 359 --- --- --- --- ATXN2 6311 broad.mit.edu 37 12 111893858 111893858 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:111893858G>T ENST00000377617.3 - 23 3880 c.3719C>A c.(3718-3720)cCa>cAa p.P1240Q ATXN2_ENST00000608853.1_Missense_Mutation_p.P1080Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.P975Q|ATXN2_ENST00000535949.1_Missense_Mutation_p.P933Q|ATXN2_ENST00000389153.4_Missense_Mutation_p.P977Q NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1240 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding p.P1240Q(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CATGTGGGGTGGGTTGGTATA 0.517 6 251 --- --- --- --- TRAFD1 10906 broad.mit.edu 37 12 112589916 112589916 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:112589916C>A ENST00000257604.5 + 10 2208 c.1591C>A c.(1591-1593)Cct>Act p.P531T TRAFD1_ENST00000412615.2_Missense_Mutation_p.P531T NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 531 negative regulation of innate immune response intracellular protein binding|zinc ion binding p.P531T(1) kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 CTCTTTCTCCCCTGGGCCTTC 0.547 6 253 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112622379 112622379 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:112622379G>T ENST00000550722.1 - 61 10348 c.9953C>A c.(9952-9954)cCc>cAc p.P3318H HECTD4_ENST00000430131.2_Missense_Mutation_p.P3042H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3292H NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GTCTGTGCCGGGGAAGGCCAG 0.632 5 55 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113698209 113698209 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:113698209C>A ENST00000550785.1 + 4 534 c.365C>A c.(364-366)cCc>cAc p.P122H TPCN1_ENST00000541517.1_Missense_Mutation_p.P122H|TPCN1_ENST00000335509.6_Missense_Mutation_p.P50H|TPCN1_ENST00000392569.4_5'UTR NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 50 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TCCCAGGCCCCCAGTCTCAGC 0.562 4 73 --- --- --- --- TAOK3 51347 broad.mit.edu 37 12 118693363 118693363 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:118693363C>A ENST00000392533.3 - 3 500 c.10G>T c.(10-12)Ggg>Tgg p.G4W TAOK3_ENST00000419821.2_Missense_Mutation_p.G4W NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 4 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCAGCACCCCTTTACGCATG 0.413 6 379 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120582545 120582545 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:120582545G>T ENST00000300648.6 - 41 5262 c.5250C>A c.(5248-5250)ccC>ccA p.P1750P NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1750 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCGGACATGGGGTGCAATGT 0.512 7 320 --- --- --- --- VPS37B 79720 broad.mit.edu 37 12 123355528 123355528 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:123355528G>T ENST00000267202.2 - 2 573 c.192C>A c.(190-192)ccC>ccA p.P64P NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 64 Interaction with IST1. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) TGTCCAGCTGGGGCTGGTACA 0.453 6 277 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123812310 123812310 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:123812310C>A ENST00000420886.2 - 11 1481 c.1482G>T c.(1480-1482)tgG>tgT p.W494C SBNO1_ENST00000602398.1_Missense_Mutation_p.W494C|SBNO1_ENST00000602750.1_Missense_Mutation_p.W493C|SBNO1_ENST00000267176.4_Missense_Mutation_p.W493C NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 494 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TACCCTCACCCCATATGCCAA 0.378 5 135 --- --- --- --- GPR133 283383 broad.mit.edu 37 12 131487813 131487813 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:131487813C>A ENST00000261654.5 + 10 1669 c.1110C>A c.(1108-1110)ccC>ccA p.P370P GPR133_ENST00000535015.1_Silent_p.P402P|GPR133_ENST00000376682.4_Silent_p.P56P NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 370 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GCAGCACGCCCCAGGTCACCG 0.622 5 145 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133233834 133233834 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr12:133233834G>T ENST00000320574.5 - 29 3513 c.3470C>A c.(3469-3471)cCa>cAa p.P1157Q POLE_ENST00000535270.1_Missense_Mutation_p.P1130Q NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1157 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ACGTGGCACTGGGTTCTTTAC 0.532 DNA polymerases (catalytic subunits) 5 151 --- --- --- --- PSPC1 55269 broad.mit.edu 37 13 20356679 20356679 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:20356679C>A ENST00000338910.4 - 1 378 c.219G>T c.(217-219)ccG>ccT p.P73P NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 73 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TCTTCTCGCCCGGCTTGAGGA 0.642 4 90 --- --- --- --- RNF17 56163 broad.mit.edu 37 13 25416253 25416253 + Missense_Mutation SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:25416253A>G ENST00000255324.5 + 19 2609 c.2557A>G c.(2557-2559)Att>Gtt p.I853V RNF17_ENST00000381921.1_Missense_Mutation_p.I853V NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 853 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.I853V(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TACTACTAGTATTAATGACCA 0.343 55 127 --- --- --- --- LNX2 222484 broad.mit.edu 37 13 28136686 28136686 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:28136686C>A ENST00000316334.3 - 5 1217 c.1088G>T c.(1087-1089)gGg>gTg p.G363V NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 363 PDZ 2. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) AATAAAAACCCCTGGCTCATC 0.522 7 295 --- --- --- --- TEX26 122046 broad.mit.edu 37 13 31531071 31531071 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:31531071C>A ENST00000380473.3 + 4 387 c.374C>A c.(373-375)cCt>cAt p.P125H NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 125 AACTGCCTCCCTTGGAAAATC 0.388 5 117 --- --- --- --- KL 9365 broad.mit.edu 37 13 33635044 33635044 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:33635044C>A ENST00000380099.3 + 4 1836 c.1828C>A c.(1828-1830)Cag>Aag p.Q610K KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 610 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TAACCAGTCCCAGGTGAACCA 0.582 5 182 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46543054 46543054 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:46543054G>T ENST00000242848.4 - 14 3973 c.3625C>A c.(3625-3627)Cca>Aca p.P1209T ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1209T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P165T Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1209 Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCATTGGATGGGGAGCGAAGA 0.498 7 211 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47269054 47269054 + Nonsense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:47269054G>T ENST00000311191.6 + 9 1376 c.1147G>T c.(1147-1149)Gag>Tag p.E383* LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383* NM_001164213.1 NP_001157685 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 383 p.E383*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) ATTTCAACCGGAGCCTTCCCT 0.408 84 82 --- --- --- --- INTS6 26512 broad.mit.edu 37 13 51961586 51961586 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:51961586C>A ENST00000311234.4 - 7 1302 c.830G>T c.(829-831)gGg>gTg p.G277V INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.G277V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.G264V|INTS6_ENST00000497989.1_Missense_Mutation_p.G99V NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 277 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) TATAGGAACCCCAGTTTTAGG 0.423 5 182 --- --- --- --- ATP7B 540 broad.mit.edu 37 13 52524476 52524476 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:52524476C>A ENST00000242839.4 - 10 2663 c.2507G>T c.(2506-2508)gGg>gTg p.G836V ATP7B_ENST00000418097.2_Missense_Mutation_p.G836V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G758V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G725V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G674V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G108V|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 836 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) AAACTTTCCCCCAGGGACCAC 0.547 Wilson disease 4 79 --- --- --- --- ATP7B 540 broad.mit.edu 37 13 52548505 52548505 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:52548505C>A ENST00000242839.4 - 2 1007 c.851G>T c.(850-852)gGg>gTg p.G284V ATP7B_ENST00000418097.2_Missense_Mutation_p.G284V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G252V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G284V|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.G284V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G284V|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 284 HMA 3. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACTTTGAACCCCTAGGAGCTG 0.468 Wilson disease 7 191 --- --- --- --- PCDH20 64881 broad.mit.edu 37 13 61986618 61986618 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:61986618G>T ENST00000409186.1 - 5 3719 c.1614C>A c.(1612-1614)ccC>ccA p.P538P PCDH20_ENST00000409204.4_Silent_p.P538P Q8N6Y1 PCD20_HUMAN protocadherin 20 511 Cadherin 4. 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) GTTCTATTAAGGGTTGAAGGA 0.423 7 448 --- --- --- --- PCDH9 5101 broad.mit.edu 37 13 67801206 67801206 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:67801206C>A ENST00000544246.1 - 2 2058 c.1367G>T c.(1366-1368)aGg>aTg p.R456M PCDH9_ENST00000328454.5_Missense_Mutation_p.R456M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R456M|PCDH9_ENST00000377865.2_Missense_Mutation_p.R456M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R456M NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 456 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AAGCTTAACCCTTACCAGGGC 0.423 5 189 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88327880 88327880 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:88327880C>A ENST00000325089.6 + 2 456 c.237C>A c.(235-237)ccC>ccA p.P79P SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 79 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TTAGCCCTCCCCGTTTCCCAA 0.453 7 450 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88328403 88328403 + Missense_Mutation SNP T T C TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:88328403T>C ENST00000325089.6 + 2 979 c.760T>C c.(760-762)Tcc>Ccc p.S254P SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 254 LRRCT 1. integral to membrane p.S254P(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGACAGCATCTCCTATTCAGC 0.507 75 242 --- --- --- --- DOCK9 23348 broad.mit.edu 37 13 99554604 99554604 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:99554604C>A ENST00000376460.1 - 12 1398 c.1318G>T c.(1318-1320)Ggg>Tgg p.G440W DOCK9_ENST00000442173.1_Missense_Mutation_p.G440W|DOCK9_ENST00000448493.2_Missense_Mutation_p.G452W|DOCK9_ENST00000339416.2_Missense_Mutation_p.G441W NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 441 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGGCTCTGCCCACTGCCATTC 0.552 4 62 --- --- --- --- TMTC4 84899 broad.mit.edu 37 13 101257324 101257324 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:101257324G>T ENST00000342624.5 - 19 2465 c.2207C>A c.(2206-2208)cCc>cAc p.P736H TMTC4_ENST00000376234.3_Missense_Mutation_p.P717H|TMTC4_ENST00000328767.5_Missense_Mutation_p.P606H NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 717 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGATGCCGTGGGGTCAAGCTG 0.428 6 321 --- --- --- --- GRK1 6011 broad.mit.edu 37 13 114324001 114324001 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr13:114324001G>T ENST00000335678.6 + 2 931 c.e2-1 NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) TCACTTTTCAGGGTGCTATGG 0.537 6 372 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20864042 20864042 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:20864042G>T ENST00000262715.5 - 11 1766 c.1726C>A c.(1726-1728)Ctc>Atc p.L576I TEP1_ENST00000556935.1_Missense_Mutation_p.L468I NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 576 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGAGCCTCGAGGGCATCAATG 0.468 4 116 --- --- --- --- OR6S1 341799 broad.mit.edu 37 14 21109838 21109838 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:21109838C>A ENST00000320704.3 - 1 12 c.13G>T c.(13-15)Ggg>Tgg p.G5W NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CTGTGGTTCCCATCAGGACTC 0.438 6 306 --- --- --- --- METTL3 56339 broad.mit.edu 37 14 21967909 21967909 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:21967909C>A ENST00000298717.4 - 7 1493 c.1342G>T c.(1342-1344)Ggg>Tgg p.G448W NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 448 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) ACTACTTACCCCCAGAGATTT 0.378 6 285 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23531693 23531693 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:23531693C>A ENST00000262710.1 - 15 3424 c.3097G>T c.(3097-3099)Ggg>Tgg p.G1033W ACIN1_ENST00000357481.2_Missense_Mutation_p.G275W|ACIN1_ENST00000605057.1_Missense_Mutation_p.G975W|ACIN1_ENST00000338631.6_Missense_Mutation_p.G306W|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1020W|ACIN1_ENST00000557515.1_Missense_Mutation_p.G274W|ACIN1_ENST00000397341.3_Missense_Mutation_p.G275W|ACIN1_ENST00000457657.1_Missense_Mutation_p.G993W NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1033 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CCTGTGCGCCCCAACAACTCC 0.478 6 388 --- --- --- --- TGM1 7051 broad.mit.edu 37 14 24729790 24729790 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:24729790C>A ENST00000206765.6 - 4 746 c.623G>T c.(622-624)cGg>cTg p.R208L TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 208 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) AGTGTGGACCCGCAGGTTCAG 0.607 4 157 --- --- --- --- NOVA1 4857 broad.mit.edu 37 14 26949216 26949216 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:26949216G>T ENST00000539517.2 - 3 731 c.414C>A c.(412-414)ccC>ccA p.P138P NOVA1_ENST00000574031.1_Silent_p.P138P|NOVA1_ENST00000344429.5_Silent_p.P138P|NOVA1_ENST00000547619.1_Silent_p.P138P|NOVA1_ENST00000267422.7_Silent_p.P16P|NOVA1_ENST00000465357.2_Silent_p.P138P NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 141 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CGGTGGTCTGGGGTTGTAGAA 0.408 6 380 --- --- --- --- BNIP3P1 319138 broad.mit.edu 37 14 28733959 28733959 + RNA SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:28733959C>A ENST00000550043.1 + 0 364 TGTGACAGCCCACCTCGCTCA 0.463 6 174 --- --- --- --- LRFN5 145581 broad.mit.edu 37 14 42360791 42360791 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:42360791G>T ENST00000298119.4 + 4 2913 c.1724G>T c.(1723-1725)gGg>gTg p.G575V LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 575 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CAAACTAACGGGGCTCAAATA 0.458 HNSCC(30;0.082) 5 135 --- --- --- --- NIN 51199 broad.mit.edu 37 14 51288706 51288706 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:51288706C>A ENST00000245441.5 - 3 259 c.69G>T c.(67-69)acG>acT p.T23T NIN_ENST00000453196.1_Silent_p.T23T|NIN_ENST00000382043.4_Silent_p.T23T|NIN_ENST00000389868.3_Silent_p.T23T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T23T|NIN_ENST00000382041.3_Silent_p.T23T|NIN_ENST00000324330.9_Silent_p.T23T NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 23 EF-hand 1. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) ACCCTGTGCCCGTCGTGTCAA 0.577 T PDGFRB MPD 6 371 --- --- --- --- SOCS4 122809 broad.mit.edu 37 14 55510674 55510674 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:55510674G>T ENST00000395472.2 + 2 1247 c.915G>T c.(913-915)gaG>gaT p.E305D SOCS4_ENST00000339298.2_Missense_Mutation_p.E305D|SOCS4_ENST00000555846.1_Missense_Mutation_p.E305D NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 305 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 GAAAACCAGAGGGTACCTTTT 0.428 6 267 --- --- --- --- SNAPC1 6617 broad.mit.edu 37 14 62245576 62245576 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:62245576G>T ENST00000216294.4 + 7 877 c.773G>T c.(772-774)aGg>aTg p.R258M NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa 258 SNAPC4-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) AGATGTGAAAGGGCAGAATCA 0.289 5 151 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64518896 64518896 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:64518896C>A ENST00000358025.3 + 48 8495 c.8265C>A c.(8263-8265)ccC>ccA p.P2755P SYNE2_ENST00000344113.4_Silent_p.P2755P|SYNE2_ENST00000554584.1_Silent_p.P2788P|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2755 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCTCCATTCCCCTTCTCCCAG 0.428 8 408 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64593108 64593108 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:64593108C>A ENST00000357395.3 + 73 13917 c.2773C>A c.(2773-2775)Ctc>Atc p.L925I SYNE2_ENST00000344113.4_Missense_Mutation_p.L4540I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491I|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174I Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4540 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTCCTGACCCTCAGTCAGTG 0.423 5 151 --- --- --- --- SPTB 6710 broad.mit.edu 37 14 65220429 65220429 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:65220429C>A ENST00000389722.3 - 32 6481 c.6428G>T c.(6427-6429)gGg>gTg p.G2143V SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.G2143V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 0 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCTCTCATCCCCAGTGGATTT 0.647 5 168 --- --- --- --- GPHN 10243 broad.mit.edu 37 14 67610144 67610144 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:67610144G>T ENST00000478722.1 + 18 2935 c.1814G>T c.(1813-1815)gGg>gTg p.G605V GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.G541V|GPHN_ENST00000315266.5_Missense_Mutation_p.G572V|GPHN_ENST00000543237.1_Missense_Mutation_p.G618V NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 572 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) ATCACATCAGGGGGTGTATCC 0.423 T MLL AL 7 269 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256411 69256411 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:69256411G>T ENST00000439696.2 - 2 1157 c.856C>A c.(856-858)Cct>Act p.P286T ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P286T NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 286 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AACATGTGAGGGGACTCGGAC 0.652 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 161 --- --- --- --- PAPLN 89932 broad.mit.edu 37 14 73730438 73730438 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:73730438C>A ENST00000427855.1 + 20 2911 c.2809C>A c.(2809-2811)Ccg>Acg p.P937T PAPLN_ENST00000340738.5_Missense_Mutation_p.P910T|PAPLN_ENST00000554301.1_Missense_Mutation_p.P937T|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000381166.3_Missense_Mutation_p.P937T|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921T O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 937 Ig-like C2-type 1. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CGACACTGCCCCGGAATCCCA 0.642 4 74 --- --- --- --- SYNDIG1L 646658 broad.mit.edu 37 14 74876080 74876080 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:74876080C>A ENST00000331628.3 - 2 615 c.368G>T c.(367-369)gGg>gTg p.G123V SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G123V NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 123 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 CTCTTGTACCCCATAGGACAC 0.572 6 387 --- --- --- --- GPATCH2L 55668 broad.mit.edu 37 14 76633061 76633061 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:76633061G>T ENST00000261530.7 + 3 784 c.718G>T c.(718-720)Ggg>Tgg p.G240W GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G240W|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G240W|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G240W NM_017926.2 NP_060396.2 G patch domain containing 2-like CAATGATGAAGGGCGACAAGG 0.433 4 59 --- --- --- --- FLRT2 23768 broad.mit.edu 37 14 86088951 86088951 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:86088951C>A ENST00000330753.4 + 2 1860 c.1093C>A c.(1093-1095)Ccc>Acc p.P365T FLRT2_ENST00000554746.1_Missense_Mutation_p.P365T NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 365 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CACCACGACCCCCGGCCTGCC 0.572 5 153 --- --- --- --- KCNK13 56659 broad.mit.edu 37 14 90650658 90650658 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:90650658G>T ENST00000282146.4 + 2 979 c.538G>T c.(538-540)Ggg>Tgg p.G180W NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 180 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) GAAGGATGCGGGGCAGTGTGA 0.632 6 187 --- --- --- --- CATSPERB 79820 broad.mit.edu 37 14 92102831 92102831 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:92102831G>T ENST00000256343.3 - 17 1836 c.1680C>A c.(1678-1680)ccC>ccA p.P560P NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 560 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TCGTTTCCTGGGGTTCGTTCT 0.428 6 207 --- --- --- --- UNC79 57578 broad.mit.edu 37 14 93994952 93994952 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:93994952C>A ENST00000553484.1 + 9 1166 c.1012C>A c.(1012-1014)Ccg>Acg p.P338T UNC79_ENST00000393151.2_Missense_Mutation_p.P338T|UNC79_ENST00000555664.1_Missense_Mutation_p.P338T|UNC79_ENST00000256339.4_Missense_Mutation_p.P161T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 338 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TAAACCACCCCCGTTGTATCT 0.403 5 180 --- --- --- --- SERPINA10 51156 broad.mit.edu 37 14 94756493 94756493 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:94756493C>A ENST00000554723.1 - 2 976 c.558G>T c.(556-558)aaG>aaT p.K186N SERPINA10_ENST00000554173.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000393096.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K146N Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 146 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CTCTGAGTCCCTTAAAGAGGG 0.572 6 185 --- --- --- --- DICER1 23405 broad.mit.edu 37 14 95557424 95557424 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:95557424G>T ENST00000541352.1 - 24 5395 c.5387C>A c.(5386-5388)cCc>cAc p.P1796H DICER1_ENST00000343455.3_Silent_p.P1850P|DICER1_ENST00000556045.1_Silent_p.P748P|DICER1_ENST00000393063.1_Silent_p.P1850P|DICER1_ENST00000526495.1_Silent_p.P1850P|DICER1_ENST00000527414.1_Silent_p.P1850P|DICER1_ENST00000527416.2_5'UTR NM_001195573.1 NP_001182502.1 Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 0 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAGGGGAACGGGGTACATTTG 0.303 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 5 138 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102472334 102472334 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:102472334C>A ENST00000360184.4 + 27 5707 c.5543C>A c.(5542-5544)cCt>cAt p.P1848H NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1848 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TACTTTGACCCTAAGCAAACT 0.418 6 301 --- --- --- --- DYNC1H1 1778 broad.mit.edu 37 14 102500413 102500413 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:102500413G>T ENST00000360184.4 + 55 10678 c.10514G>T c.(10513-10515)gGg>gTg p.G3505V DYNC1H1_ENST00000556791.1_3'UTR NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3505 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ACCATTGCTGGGGACTGTCTC 0.488 8 398 --- --- --- --- TNFAIP2 7127 broad.mit.edu 37 14 103601680 103601680 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:103601680C>A ENST00000560869.1 + 12 2587 c.1948C>A c.(1948-1950)Ctt>Att p.L650I TNFAIP2_ENST00000451723.2_Missense_Mutation_p.L319I|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.L133I|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.L650I Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 650 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) CCTATTTTCCCTTATAAAGGT 0.597 6 354 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105409232 105409232 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:105409232G>T ENST00000333244.5 - 7 12675 c.12556C>A c.(12556-12558)Cct>Act p.P4186T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4186 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCGGCGGAAGGGGACTGAATG 0.657 9 344 --- --- --- --- IGHV3-23 28442 broad.mit.edu 37 14 106725471 106725471 + RNA SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr14:106725471C>A ENST00000390609.2 - 0 159 CCAAGCCTCCCCCAGACTCCA 0.557 6 217 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25444499 25444499 + RNA SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:25444499G>T ENST00000424208.1 + 0 1772 SNHG14_ENST00000424333.1_RNA NR_003305.1 GCTGAAGCGCGGGACCTACCT 0.632 4 79 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28370323 28370323 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:28370323C>A ENST00000261609.7 - 84 12927 c.12819G>T c.(12817-12819)tgG>tgT p.W4273C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4273 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CATTGTCGCCCCATGTATAAA 0.522 7 304 --- --- --- --- EMC4 51234 broad.mit.edu 37 15 34520689 34520689 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:34520689G>T ENST00000267750.4 + 4 531 c.415G>T c.(415-417)Ggg>Tgg p.G139W EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron NM_016454.2 NP_057538.1 ER membrane protein complex subunit 4 CTATCTCATTGGGAACCTGAT 0.448 7 400 --- --- --- --- MEIS2 4212 broad.mit.edu 37 15 37184642 37184642 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:37184642C>A ENST00000338564.5 - 13 1591 c.1145G>T c.(1144-1146)gGg>gTg p.G382V MEIS2_ENST00000561208.1_Missense_Mutation_p.G389V|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G382V|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 389 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.G389V(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) AACGTAGTCCCCTGGCATGCT 0.433 7 404 --- --- --- --- VPS18 57617 broad.mit.edu 37 15 41192388 41192388 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:41192388C>A ENST00000220509.5 + 4 1711 c.1372C>A c.(1372-1374)Ctc>Atc p.L458I VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 458 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGAGATTGCCCTCAAGTTCCT 0.617 5 163 --- --- --- --- CKMT1B 1159 broad.mit.edu 37 15 43891443 43891443 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:43891443C>A ENST00000300283.6 + 10 1618 c.1226C>A c.(1225-1227)cCc>cAc p.P409H CKMT1B_ENST00000441322.1_Missense_Mutation_p.P409H NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 409 creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) ATCCGCATCCCCACACCTGTC 0.502 5 159 --- --- --- --- CASC4 113201 broad.mit.edu 37 15 44671971 44671971 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:44671971C>A ENST00000299957.6 + 7 1185 c.886C>A c.(886-888)Cca>Aca p.P296T CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.P296T NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 296 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) ACCTCTCTCCCCAAATATGCC 0.353 6 294 --- --- --- --- HDC 3067 broad.mit.edu 37 15 50534614 50534614 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:50534614C>A ENST00000267845.3 - 12 2234 c.1832G>T c.(1831-1833)aGg>aTg p.R611M HDC_ENST00000543581.1_Missense_Mutation_p.R578M NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 611 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GATTCTGACCCTGGAGGAGCC 0.502 7 395 --- --- --- --- DMXL2 23312 broad.mit.edu 37 15 51763506 51763506 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:51763506G>T ENST00000251076.5 - 29 7590 c.7303C>A c.(7303-7305)Cca>Aca p.P2435T DMXL2_ENST00000543779.2_Missense_Mutation_p.P2436T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1799T NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2435 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ACCGGTGGTGGGGTAGCATCT 0.433 7 426 --- --- --- --- MYO5A 4644 broad.mit.edu 37 15 52675337 52675337 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:52675337G>T ENST00000399231.3 - 16 2206 c.1963C>A c.(1963-1965)Cct>Act p.P655T MYO5A_ENST00000356338.6_Missense_Mutation_p.P655T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P655T|MYO5A_ENST00000399233.2_Missense_Mutation_p.P655T|MYO5A_ENST00000553916.1_Missense_Mutation_p.P655T NM_000259.3 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 655 Actin-binding (Potential).|Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) ACATAGTGAGGGGTAGTGGCA 0.438 7 293 --- --- --- --- ONECUT1 3175 broad.mit.edu 37 15 53081150 53081150 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:53081150G>T ENST00000305901.5 - 1 1059 c.932C>A c.(931-933)cCa>cAa p.P311Q ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 311 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) GATGGCCTGTGGGATGCTGTA 0.602 4 133 --- --- --- --- DYX1C1 161582 broad.mit.edu 37 15 55742473 55742473 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:55742473G>T ENST00000321149.3 - 6 1097 c.730C>A c.(730-732)Cct>Act p.P244T DYX1C1_ENST00000380679.1_Missense_Mutation_p.P244T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P244T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P244T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P244T NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 244 neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) AATACTCGAGGGGTAAAGTTG 0.363 5 162 --- --- --- --- ALDH1A2 8854 broad.mit.edu 37 15 58306166 58306166 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:58306166G>A ENST00000249750.4 - 3 1020 c.253C>T c.(253-255)Cgc>Tgc p.R85C ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 85 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.R85S(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) AAAGCCAGGCGGGCTGCCTGC 0.498 7 547 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59180632 59180632 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:59180632C>A ENST00000380516.2 - 17 2414 c.2327G>T c.(2326-2328)aGg>aTg p.R776M SLTM_ENST00000536328.1_Missense_Mutation_p.R345M NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 776 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AAACCTGCCCCTCTCTCGGTG 0.388 6 228 --- --- --- --- MYO1E 4643 broad.mit.edu 37 15 59510201 59510201 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:59510201C>A ENST00000288235.4 - 10 1395 c.996G>T c.(994-996)tgG>tgT p.W332C NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 332 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) ATTTGCCTCCCCACTTGCTAT 0.517 6 269 --- --- --- --- SPESP1 246777 broad.mit.edu 37 15 69238017 69238017 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:69238017C>A ENST00000310673.3 + 2 298 c.144C>A c.(142-144)ccC>ccA p.P48P RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 48 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 GAAGTGTTCCCTCTGGGGAGC 0.373 7 227 --- --- --- --- TLE3 7090 broad.mit.edu 37 15 70358460 70358460 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:70358460G>T ENST00000558939.1 - 7 1847 c.470C>A c.(469-471)cCc>cAc p.P157H TLE3_ENST00000440567.3_Missense_Mutation_p.P150H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Missense_Mutation_p.P157H|TLE3_ENST00000559929.1_Missense_Mutation_p.P167H|TLE3_ENST00000442299.2_Missense_Mutation_p.P157H|TLE3_ENST00000560939.1_Missense_Mutation_p.P162H|TLE3_ENST00000558201.1_Missense_Mutation_p.P163H|TLE3_ENST00000559048.1_Missense_Mutation_p.P162H|TLE3_ENST00000451782.2_Missense_Mutation_p.P157H|TLE3_ENST00000558379.1_Missense_Mutation_p.P157H|TLE3_ENST00000560589.1_Missense_Mutation_p.P101H|TLE3_ENST00000557997.1_Missense_Mutation_p.P157H|TLE3_ENST00000317509.8_Missense_Mutation_p.P157H|TLE3_ENST00000539550.1_Missense_Mutation_p.P101H NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 157 Gly/Pro-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGTCACTGGGGGGATTCCTGG 0.667 4 47 --- --- --- --- PARP6 56965 broad.mit.edu 37 15 72553902 72553902 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:72553902G>T ENST00000569795.1 - 9 1229 c.542C>A c.(541-543)cCc>cAc p.P181H PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.P181H|PARP6_ENST00000287196.9_Missense_Mutation_p.P181H Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 181 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 CACTTACTTGGGGATGGGTGA 0.488 6 386 --- --- --- --- C15orf59 388135 broad.mit.edu 37 15 74043425 74043425 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:74043425G>T ENST00000569673.1 - 2 1251 c.47C>A c.(46-48)cCc>cAc p.P16H C15orf59_ENST00000379822.4_Missense_Mutation_p.P16H Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 16 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ACCACTGCTGGGGTCGTCACT 0.652 5 106 --- --- --- --- PML 5371 broad.mit.edu 37 15 74328275 74328275 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:74328275C>A ENST00000268059.6 + 8 2569 c.2473C>A c.(2473-2475)Cgt>Agt p.R825S PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R777S|PML_ENST00000268058.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR NM_033239.2|NM_033244.3 NP_150242.1|NP_150247.2 P29590 PML_HUMAN promyelocytic leukemia 0 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 CCCAGGCGCCCGTCAAGCAGG 0.622 T """RARA, PAX5""" """APL, ALL""" 7 424 --- --- --- --- EDC3 80153 broad.mit.edu 37 15 74948192 74948192 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:74948192C>A ENST00000315127.4 - 4 883 c.702G>T c.(700-702)cgG>cgT p.R234R EDC3_ENST00000426797.3_Silent_p.R234R|EDC3_ENST00000568176.1_Silent_p.R234R NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 234 Required for interaction with DDX6 (By similarity). exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TTGGGATGCCCCGGGAACGGG 0.498 5 185 --- --- --- --- BTBD1 53339 broad.mit.edu 37 15 83698965 83698965 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:83698965C>A ENST00000261721.4 - 5 1180 c.978G>T c.(976-978)agG>agT p.R326S RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R326S NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 326 cytoplasmic mRNA processing body|protein complex protein binding p.R326R(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) ATTCCTTTCCCCTGAGACAGC 0.453 9 613 --- --- --- --- TM6SF1 53346 broad.mit.edu 37 15 83781633 83781633 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:83781633C>A ENST00000322019.9 + 2 451 c.177C>A c.(175-177)ccC>ccA p.P59P TM6SF1_ENST00000379390.6_Silent_p.P59P|TM6SF1_ENST00000379386.4_Silent_p.P59P|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.P59P Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 59 P -> S (in dbSNP:rs1989). integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 GAAAACCACCCCGGGACCCAC 0.483 7 174 --- --- --- --- ADAMTSL3 57188 broad.mit.edu 37 15 84373226 84373226 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:84373226G>T ENST00000286744.5 + 3 379 c.155G>T c.(154-156)gGg>gTg p.G52V ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52V NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 52 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GACACAACAGGGGAGCAGTTC 0.468 10 425 --- --- --- --- AKAP13 11214 broad.mit.edu 37 15 86278321 86278321 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:86278321C>A ENST00000394518.2 + 31 7476 c.7381C>A c.(7381-7383)Ctg>Atg p.L2461M AKAP13_ENST00000361243.2_Missense_Mutation_p.L2465M|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L706M NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2461 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 TCCCGTTTCCCTGCCCCGGAG 0.507 6 365 --- --- --- --- ABHD2 11057 broad.mit.edu 37 15 89719095 89719095 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:89719095C>A ENST00000352732.5 + 6 1111 c.591C>A c.(589-591)ccC>ccA p.P197P ABHD2_ENST00000565973.1_Silent_p.P197P|ABHD2_ENST00000355100.3_Silent_p.P197P NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 197 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) AGACATATCCCCTGACCCAGC 0.522 5 164 --- --- --- --- CRTC3 64784 broad.mit.edu 37 15 91169054 91169054 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:91169054G>T ENST00000420329.2 + 10 943 c.796G>T c.(796-798)Ggg>Tgg p.G266W RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.G266W NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 266 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) ACCCTTCTTGGGGACCTTGAA 0.488 T MAML2 salivary gland mucoepidermoid 10 609 --- --- --- --- CRTC3 64784 broad.mit.edu 37 15 91172673 91172673 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:91172673C>A ENST00000420329.2 + 11 1322 c.1175C>A c.(1174-1176)cCt>cAt p.P392H RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.P392H NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 392 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CCCGTCAGCCCTCTCACGCTT 0.582 T MAML2 salivary gland mucoepidermoid 6 330 --- --- --- --- ST8SIA2 8128 broad.mit.edu 37 15 92981724 92981724 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:92981724C>A ENST00000268164.3 + 4 669 c.432C>A c.(430-432)ccC>ccA p.P144P ST8SIA2_ENST00000539113.1_Silent_p.P123P NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 144 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) AGCTCCTCCCCAGGACTTCGC 0.537 5 248 --- --- --- --- SYNM 23336 broad.mit.edu 37 15 99672871 99672871 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:99672871C>A ENST00000336292.6 + 5 4423 c.4303C>A c.(4303-4305)Cct>Act p.P1435T SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1436 Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 AGCGGACTCCCCTGAGCTAGG 0.512 7 371 --- --- --- --- ADAMTS17 170691 broad.mit.edu 37 15 100594132 100594132 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr15:100594132C>A ENST00000268070.4 - 16 2370 c.2265G>T c.(2263-2265)aaG>aaT p.K755N NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 755 Spacer. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TGGTTGGTCCCTTGGCAGAGA 0.532 8 487 --- --- --- --- MSLN 10232 broad.mit.edu 37 16 812728 812728 + Silent SNP C C A rs138683708 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:812728C>A ENST00000566549.1 + 2 465 c.48C>A c.(46-48)ccC>ccA p.P16P MSLN_ENST00000382862.3_Silent_p.P16P|MSLN_ENST00000545450.2_Silent_p.P16P|MSLN_ENST00000563941.1_Silent_p.P16P Q13421 MSLN_HUMAN mesothelin 16 TPAL -> DRP (in Ref. 2; AAC50348). cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GTGGGACCCCCGCCCTCGGCA 0.692 5 290 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1825078 1825078 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:1825078C>A ENST00000307394.7 + 4 514 c.514C>A c.(514-516)Ccc>Acc p.P172T EME2_ENST00000568449.1_Missense_Mutation_p.P172T A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 172 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 CTGGATCTCCCCCGAGACCAC 0.657 Direct reversal of damage;Homologous recombination 6 290 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2819215 2819215 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:2819215C>A ENST00000301740.8 + 12 8500 c.7951C>A c.(7951-7953)Cct>Act p.P2651T SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2651 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ctccccttccCCTGCTAAGCC 0.587 6 304 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2819272 2819272 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:2819272C>A ENST00000301740.8 + 12 8557 c.8008C>A c.(8008-8010)Cct>Act p.P2670T SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2670 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GAAGCCACCCCCTGGCGAGCG 0.637 6 309 --- --- --- --- OR1F1 4992 broad.mit.edu 37 16 3254942 3254942 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:3254942G>T ENST00000304646.2 + 1 696 c.696G>T c.(694-696)aaG>aaT p.K232N AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 CATCCACAAAGGGAAGGTGGA 0.512 8 306 --- --- --- --- MGRN1 23295 broad.mit.edu 37 16 4714730 4714730 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:4714730G>T ENST00000399577.5 + 6 675 c.582G>T c.(580-582)cgG>cgT p.R194R MGRN1_ENST00000262370.7_Silent_p.R194R|MGRN1_ENST00000586183.1_Silent_p.R194R|MGRN1_ENST00000415496.1_Silent_p.R194R|MGRN1_ENST00000588994.1_Silent_p.R194R NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 194 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 ACCTGGACCGGGGCGTGTTTC 0.597 5 164 --- --- --- --- MKL2 57496 broad.mit.edu 37 16 14234515 14234515 + Missense_Mutation SNP C C A rs139420323 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:14234515C>A ENST00000571589.1 + 3 224 c.52C>A c.(52-54)Cat>Aat p.H18N MKL2_ENST00000318282.5_Missense_Mutation_p.H18N|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000574045.1_Missense_Mutation_p.H18N NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 0 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCTTTAGCCCATCTTGCTCC 0.507 5 179 --- --- --- --- LOC100129781 100129781 broad.mit.edu 37 16 14397848 14397848 + RNA SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:14397848G>T ENST00000570945.1 + 0 310 MIR193B_ENST00000384907.1_RNA GGGGTTTTGAGGGCGAGATGA 0.577 7 333 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15719561 15719561 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:15719561C>A ENST00000396368.3 - 8 1827 c.1621G>T c.(1621-1623)Ggg>Tgg p.G541W KIAA0430_ENST00000551742.1_Missense_Mutation_p.G540W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G363W NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 540 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 AGCACTTTCCCACCACAATTA 0.483 7 242 --- --- --- --- SMG1 23049 broad.mit.edu 37 16 18844357 18844357 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:18844357G>T ENST00000446231.2 - 51 9109 c.8697C>A c.(8695-8697)ccC>ccA p.P2899P SMG1_ENST00000389467.3_Silent_p.P2899P Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2899 P -> A. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GAGTCTGCAGGGGAACGCCAT 0.468 10 501 --- --- --- --- ACSM5 54988 broad.mit.edu 37 16 20448426 20448426 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:20448426G>T ENST00000331849.4 + 11 1508 c.1361G>T c.(1360-1362)gGg>gTg p.G454V NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 454 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TACATCACAGGGGACCGAGCT 0.488 8 327 --- --- --- --- ACSM3 6296 broad.mit.edu 37 16 20803376 20803376 + Missense_Mutation SNP G G T rs140665877 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:20803376G>T ENST00000289416.5 + 11 1854 c.1379G>T c.(1378-1380)gGg>gTg p.G460V ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452V NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 460 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.G460V(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TATATCACTGGGGACAGAGGA 0.373 7 378 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21147786 21147786 + Missense_Mutation SNP G G T rs140282790 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:21147786G>T ENST00000261383.3 - 6 744 c.745C>A c.(745-747)Cct>Act p.P249T DNAH3_ENST00000415178.1_Missense_Mutation_p.P249T NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 249 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCCTCCTCAGGGGCAATCATG 0.478 7 351 --- --- --- --- PDZD9 255762 broad.mit.edu 37 16 21995621 21995621 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:21995621C>A ENST00000286143.6 - 5 897 c.576G>T c.(574-576)gaG>gaT p.E192D PDZD9_ENST00000424898.2_Missense_Mutation_p.E254D|PDZD9_ENST00000537222.2_Missense_Mutation_p.E194D Q8IXQ8 PDZD9_HUMAN PDZ domain containing 9 254 breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 GGGCTTTACCCTCTTCAACTT 0.453 14 1392 --- --- --- --- GGA2 23062 broad.mit.edu 37 16 23498080 23498080 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:23498080G>T ENST00000309859.4 - 7 693 c.611C>A c.(610-612)cCc>cAc p.P204H GGA2_ENST00000567468.1_Missense_Mutation_p.P204H NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 204 GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding p.P204H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) AAGGTCCTCGGGGTGGTTGCT 0.507 8 544 --- --- --- --- PRKCB 5579 broad.mit.edu 37 16 24104145 24104145 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:24104145C>A ENST00000303531.7 + 6 715 c.563C>A c.(562-564)cCc>cAc p.P188H PRKCB_ENST00000321728.7_Missense_Mutation_p.P188H|PRKCB_ENST00000482000.1_3'UTR NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 188 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CCTATGGACCCCAATGGCCTG 0.423 6 350 --- --- --- --- ZKSCAN2 342357 broad.mit.edu 37 16 25258052 25258052 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:25258052G>T ENST00000328086.7 - 5 2268 c.1465C>A c.(1465-1467)Cct>Act p.P489T NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 489 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) AACAAGACAGGGGCACCATGG 0.443 7 396 --- --- --- --- CCDC101 112869 broad.mit.edu 37 16 28602973 28602973 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:28602973C>A ENST00000317058.3 + 10 1015 c.828C>A c.(826-828)ccC>ccA p.P276P NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 276 SGF29 C-terminal. establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 ATTCCCCTCCCCTCAATGTGG 0.582 7 210 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734623 28734623 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:28734623G>T ENST00000331666.6 + 9 1101 c.915G>T c.(913-915)cgG>cgT p.R305R EIF3C_ENST00000566866.1_Silent_p.R305R|EIF3C_ENST00000564243.1_Silent_p.R295R|EIF3C_ENST00000395587.1_Silent_p.R305R|EIF3C_ENST00000566501.1_Silent_p.R305R Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 305 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 AAAGGGTCCGGGGCGGAGTGC 0.537 14 1271 --- --- --- --- NFATC2IP 84901 broad.mit.edu 37 16 28965930 28965930 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:28965930C>A ENST00000320805.4 + 3 580 c.505C>A c.(505-507)Cca>Aca p.P169T NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 169 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 TGAGGGCTCCCCATCACCAGG 0.562 6 367 --- --- --- --- CORO1A 11151 broad.mit.edu 37 16 30197992 30197992 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:30197992C>A ENST00000219150.5 + 3 577 c.272C>A c.(271-273)cCg>cAg p.P91Q CORO1A_ENST00000565497.1_Missense_Mutation_p.P91Q|CORO1A_ENST00000570045.1_Missense_Mutation_p.P91Q NM_001193333.2|NM_007074.3 NP_001180262.1|NP_009005.1 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 91 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 GCCTGGTGCCCGCACAATGAC 0.617 3 39 --- --- --- --- ZNF688 146542 broad.mit.edu 37 16 30581354 30581354 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:30581354C>A ENST00000223459.6 - 3 1818 c.714G>T c.(712-714)ggG>ggT p.G238G ZNF688_ENST00000395219.1_Silent_p.G224G NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 CCCGCCGCCCCCCGGAGCAGG 0.706 4 32 --- --- --- --- ZNF629 23361 broad.mit.edu 37 16 30793264 30793264 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:30793264G>T ENST00000262525.4 - 3 2592 c.2385C>A c.(2383-2385)ccC>ccA p.P795P NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 795 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CGGGATTGGGGGGTTTTTCCT 0.662 9 296 --- --- --- --- ZNF668 79759 broad.mit.edu 37 16 31072440 31072440 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:31072440G>T ENST00000538906.1 - 3 2593 c.1809C>A c.(1807-1809)ccC>ccA p.P603P ZNF668_ENST00000426488.2_Silent_p.P626P|ZNF668_ENST00000535577.1_Silent_p.P603P|ZNF668_ENST00000300849.4_Silent_p.P603P|ZNF668_ENST00000394983.2_Silent_p.P603P|ZNF668_ENST00000539836.3_Silent_p.P626P NM_001172668.1 NP_001166139 Q96K58 ZN668_HUMAN zinc finger protein 668 603 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GGGGCTCCAGGGGTGTGGGGG 0.672 5 153 --- --- --- --- ITGAX 3687 broad.mit.edu 37 16 31373412 31373412 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:31373412G>T ENST00000268296.4 + 11 1224 c.1103G>T c.(1102-1104)gGg>gTg p.G368V ITGAX_ENST00000562522.1_Missense_Mutation_p.G368V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 368 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCCGTTCTGGGGGCTGTGGGG 0.582 7 333 --- --- --- --- SHCBP1 79801 broad.mit.edu 37 16 46638210 46638210 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:46638210C>A ENST00000303383.3 - 6 1119 c.853G>T c.(853-855)Ggg>Tgg p.G285W NM_024745.4 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 285 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) AATTTTAACCCTTCCACCATG 0.363 6 323 --- --- --- --- SHCBP1 79801 broad.mit.edu 37 16 46649932 46649932 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:46649932G>T ENST00000303383.3 - 4 788 c.522C>A c.(520-522)ccC>ccA p.P174P NM_024745.4 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 174 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) GCTCCTGCAGGGGCAACCGAT 0.483 6 240 --- --- --- --- PAPD5 64282 broad.mit.edu 37 16 50250028 50250028 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:50250028C>A ENST00000357464.3 + 5 570 c.570C>A c.(568-570)ccC>ccA p.P190P PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Silent_p.P202P|PAPD5_ENST00000436909.3_Silent_p.P269P Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 190 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(1)|lung(2) 4 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) AGAACCTACCCCTCTGGACTC 0.438 5 186 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51174722 51174722 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:51174722G>T ENST00000440970.1 - 2 1551 c.1120C>A c.(1120-1122)Cat>Aat p.H374N SALL1_ENST00000251020.4_Missense_Mutation_p.H471N|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 471 Poly-Ser. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTCCGGTATGGGAACGCAAG 0.512 4 116 --- --- --- --- PLCG2 5336 broad.mit.edu 37 16 81942029 81942029 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:81942029C>A ENST00000359376.3 + 17 1780 c.1566C>A c.(1564-1566)ccC>ccA p.P522P NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 522 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 AGGATATACCCCCTACAGAAC 0.542 4 87 --- --- --- --- ZCCHC14 23174 broad.mit.edu 37 16 87451234 87451234 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr16:87451234C>A ENST00000268616.4 - 8 1021 c.804G>T c.(802-804)gcG>gcT p.A268A NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 268 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGGCTGAGCCCGCGCTGCCCG 0.682 4 174 --- --- --- --- FAM57A 79850 broad.mit.edu 37 17 641201 641201 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:641201C>A ENST00000308278.8 + 3 558 c.322C>A c.(322-324)Ctc>Atc p.L108I FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.L108I NM_024792.1 NP_079068.1 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 108 TLC. integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) TGCGCCCTCCCTCACTCTTCG 0.507 6 259 --- --- --- --- FAM57A 79850 broad.mit.edu 37 17 644626 644626 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:644626C>A ENST00000308278.8 + 5 826 c.590C>A c.(589-591)cCc>cAc p.P197H FAM57A_ENST00000301324.8_Missense_Mutation_p.P165H NM_024792.1 NP_079068.1 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 197 TLC. integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) CTTCTCTTCCCCTTCATGTAC 0.542 5 139 --- --- --- --- OR1D2 4991 broad.mit.edu 37 17 2996055 2996055 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:2996055G>T ENST00000331459.1 - 1 235 c.236C>A c.(235-237)cCc>cAc p.P79H NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 79 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 CAGCATCTTGGGGATTGTGTT 0.547 6 269 --- --- --- --- OR1E2 8388 broad.mit.edu 37 17 3336249 3336249 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:3336249G>T ENST00000248384.1 - 1 886 c.887C>A c.(886-888)cCc>cAc p.P296H NM_003554.1 NP_003545.1 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, member 2 296 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 GTAGATGAAGGGGGTCAGCAT 0.453 6 165 --- --- --- --- ZZEF1 23140 broad.mit.edu 37 17 3937384 3937384 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:3937384C>A ENST00000381638.2 - 40 6633 c.6509G>T c.(6508-6510)gGg>gTg p.G2170V NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2170 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GGAACTGTCCCCTGCAGCAAA 0.542 7 372 --- --- --- --- USP6 9098 broad.mit.edu 37 17 5040480 5040480 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:5040480G>T ENST00000574788.1 + 19 3054 c.824G>T c.(823-825)gGg>gTg p.G275V USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G275V|USP6_ENST00000332776.4_Splice_Site_p.G275V P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 275 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTGATTGACGGGGTAAGGAGG 0.642 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 5 107 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5437289 5437289 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:5437289G>T ENST00000345221.3 - 9 3534 c.2980C>A c.(2980-2982)Cct>Act p.P994T NLRP1_ENST00000269280.4_Missense_Mutation_p.P994T|NLRP1_ENST00000354411.3_Missense_Mutation_p.P964T|NLRP1_ENST00000572272.1_Missense_Mutation_p.P994T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P964T|NLRP1_ENST00000262467.5_Missense_Mutation_p.P994T NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 994 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CCCTCAGTAGGGGTCATCACA 0.498 8 436 --- --- --- --- AIPL1 23746 broad.mit.edu 37 17 6331819 6331819 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:6331819C>A ENST00000381129.3 - 3 364 c.284G>T c.(283-285)gGg>gTg p.G95V AIPL1_ENST00000576776.1_Missense_Mutation_p.G95V|AIPL1_ENST00000576307.1_Missense_Mutation_p.G35V|AIPL1_ENST00000570466.1_Missense_Mutation_p.G73V|AIPL1_ENST00000575265.1_Missense_Mutation_p.G95V|AIPL1_ENST00000571740.1_Missense_Mutation_p.G95V|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.G83V NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 95 PPIase FKBP-type. protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) GGGGTAGACCCCCGTGTGCTG 0.637 6 91 --- --- --- --- DLG4 1742 broad.mit.edu 37 17 7106238 7106238 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:7106238G>T ENST00000399510.2 - 10 1752 c.900C>A c.(898-900)ccC>ccA p.P300P DLG4_ENST00000399506.2_Silent_p.P257P|DLG4_ENST00000485100.1_Silent_p.P254P|DLG4_ENST00000302955.6_Silent_p.P254P NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 257 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TGATGTCTGGGGGAGCATAGC 0.527 5 87 --- --- --- --- PHF23 79142 broad.mit.edu 37 17 7139749 7139749 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:7139749G>T ENST00000320316.3 - 4 723 c.497C>A c.(496-498)cCc>cAc p.P166H PHF23_ENST00000571362.1_Missense_Mutation_p.P99H|PHF23_ENST00000576955.1_Missense_Mutation_p.P36H|PHF23_ENST00000454255.2_Missense_Mutation_p.P162H NM_001284518.1|NM_024297.2 NP_001271447.1|NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 166 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 AAGGGGCACGGGGGTAAGAGC 0.602 6 120 --- --- --- --- YBX2 51087 broad.mit.edu 37 17 7192148 7192148 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:7192148G>T ENST00000007699.5 - 8 1117 c.1054C>A c.(1054-1056)Cct>Act p.P352T NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 352 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 CTGTTGACAGGGGCTGAGGTC 0.532 4 78 --- --- --- --- CNTROB 116840 broad.mit.edu 37 17 7852466 7852466 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:7852466C>A ENST00000380262.3 + 18 3568 c.2643C>A c.(2641-2643)ccC>ccA p.P881P CNTROB_ENST00000565740.1_Silent_p.P860P|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.P859P NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 859 Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) GTGAGATCCCCCGGAAAGAGG 0.572 6 87 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11757555 11757555 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:11757555C>A ENST00000262442.4 + 50 9811 c.9743C>A c.(9742-9744)cCc>cAc p.P3248H DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGCAAGACCCCGAGTTCAAT 0.483 6 314 --- --- --- --- TOM1L2 146691 broad.mit.edu 37 17 17797015 17797015 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:17797015G>T ENST00000379504.3 - 4 409 c.326C>A c.(325-327)cCt>cAt p.P109H TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P109H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P109H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000581396.1_Intron|TOM1L2_ENST00000540946.1_Missense_Mutation_p.P109H NM_001082968.1 NP_001076437.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 109 VHS. intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) AATGGTGGGAGGGTTGTTCTT 0.468 6 199 --- --- --- --- SHMT1 6470 broad.mit.edu 37 17 18238892 18238892 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:18238892G>T ENST00000316694.3 - 8 1046 c.912C>A c.(910-912)ccC>ccA p.P304P SHMT1_ENST00000539052.1_Silent_p.P166P|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron NM_004169.3 NP_004160.3 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 304 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CGTGGTTGTGGGGACCTCCCT 0.517 7 392 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19235220 19235220 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:19235220C>A ENST00000314728.5 + 10 1950 c.1466C>A c.(1465-1467)cCc>cAc p.P489H EPN2_ENST00000571254.1_Missense_Mutation_p.P425H|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.P432H|EPN2_ENST00000395618.3_Missense_Mutation_p.P204H|EPN2_ENST00000395620.2_Missense_Mutation_p.P432H|EPN2_ENST00000575595.1_Missense_Mutation_p.P197H NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 489 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) AGCCCTGACCCCTTTGAGTCT 0.582 7 240 --- --- --- --- SPECC1 92521 broad.mit.edu 37 17 20107684 20107684 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:20107684C>A ENST00000395530.2 + 2 287 c.79C>A c.(79-81)Cca>Aca p.P27T SPECC1_ENST00000395527.4_Missense_Mutation_p.P108T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.P27T|SPECC1_ENST00000395529.3_Missense_Mutation_p.P108T|SPECC1_ENST00000395525.3_Missense_Mutation_p.P27T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.P108T NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 108 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) CATTCCAGCCCCACGGGAATT 0.443 8 423 --- --- --- --- PROCA1 147011 broad.mit.edu 37 17 27030734 27030734 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:27030734C>A ENST00000301039.2 - 4 1046 c.853G>T c.(853-855)Ggg>Tgg p.G285W PROCA1_ENST00000439862.3_Missense_Mutation_p.G287W|PROCA1_ENST00000581289.1_3'UTR NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 313 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TCTCCCTGCCCCCGGCCATTG 0.572 7 212 --- --- --- --- RAB34 83871 broad.mit.edu 37 17 27043922 27043922 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:27043922C>A ENST00000395245.3 - 2 771 c.145G>T c.(145-147)Gga>Tga p.G49* RAB34_ENST00000395242.2_Splice_Site_p.G49C|RAB34_ENST00000453384.3_Splice_Site_p.G106C|RAB34_ENST00000436730.3_Splice_Site_p.G49*|RAB34_ENST00000395243.3_Splice_Site_p.G49*|RAB34_ENST00000415040.2_Splice_Site_p.G49W|RAB34_ENST00000447716.1_Splice_Site_p.G106*|RAB34_ENST00000301043.6_Splice_Site_p.G49*|RAB34_ENST00000450529.1_Splice_Site_p.G49* NM_001256281.1|NM_031934.5 NP_001243210.1|NP_114140.4 Q9BZG1 RAB34_HUMAN RAB34, member RAS oncogene family 49 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) CTAACTCACCCCACGGTGCCT 0.602 5 123 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27958281 27958281 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:27958281G>T ENST00000269033.3 - 15 4001 c.3850C>A c.(3850-3852)Cct>Act p.P1284T RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P1311T NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1284 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTGAGATGAGGGGATTCACAG 0.542 7 166 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27959328 27959328 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:27959328C>A ENST00000269033.3 - 15 2954 c.2803G>T c.(2803-2805)Ggg>Tgg p.G935W RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.G962W NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 935 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGTATTTCCCTTTGCCTTTG 0.512 6 291 --- --- --- --- C17orf66 256957 broad.mit.edu 37 17 34191783 34191783 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:34191783G>T ENST00000311880.2 - 4 580 c.432C>A c.(430-432)ccC>ccA p.P144P C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 144 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GCCACTTCAGGGGGTCCTGGG 0.542 5 141 --- --- --- --- LOC101929950 101929950 broad.mit.edu 37 17 36375117 36375117 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:36375117G>T ENST00000312412.4 - 3 400 c.401C>A c.(400-402)cCt>cAt p.P134H RP11-1407O15.2_ENST00000544906.1_5'UTR kidney(1)|lung(3) 4 CAGAGTACTAGGGAAAGACAA 0.343 4 110 --- --- --- --- GPR179 440435 broad.mit.edu 37 17 36485335 36485335 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:36485335G>T ENST00000342292.4 - 11 4137 c.4117C>A c.(4117-4119)Cct>Act p.P1373T NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1373 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GTGATGTCAGGGGTATGAGCT 0.597 6 182 --- --- --- --- MED1 5469 broad.mit.edu 37 17 37566496 37566496 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:37566496G>T ENST00000300651.6 - 17 2201 c.1978C>A c.(1978-1980)Ctt>Att p.L660I MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 660 Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CTTCCATAAAGGGTTGAGAAA 0.512 HNSCC(31;0.082) 6 250 --- --- --- --- MED1 5469 broad.mit.edu 37 17 37566851 37566851 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:37566851G>T ENST00000300651.6 - 17 1846 c.1623C>A c.(1621-1623)ccC>ccA p.P541P MED1_ENST00000394287.3_Silent_p.P541P NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 541 Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGCTAGCCGGGGGCAGGTTCT 0.547 HNSCC(31;0.082) 5 174 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37686895 37686895 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:37686895C>A ENST00000447079.4 + 14 3832 c.3799C>A c.(3799-3801)Cct>Act p.P1267T CDK12_ENST00000430627.2_Missense_Mutation_p.P1258T NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1267 Poly-Pro. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GAAGAGGCCCCCTGAGCCCCC 0.557 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 9 387 --- --- --- --- RAPGEFL1 51195 broad.mit.edu 37 17 38348923 38348923 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:38348923C>A ENST00000436615.3 + 12 1594 c.1104C>A c.(1102-1104)ccC>ccA p.P368P RAPGEFL1_ENST00000544503.1_Silent_p.P417P|RAPGEFL1_ENST00000264644.6_Silent_p.P368P|RAPGEFL1_ENST00000456989.2_Silent_p.P423P NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 574 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CTGTGATTCCCTTCGTGCCTC 0.532 7 373 --- --- --- --- WIPF2 147179 broad.mit.edu 37 17 38420795 38420795 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:38420795C>A ENST00000323571.4 + 5 607 c.367C>A c.(367-369)Cca>Aca p.P123T WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P123T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P123T NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 123 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 AGCTGCTGCCCCAAGGCCTCC 0.567 HNSCC(43;0.11) 6 158 --- --- --- --- TNS4 84951 broad.mit.edu 37 17 38643289 38643289 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:38643289C>A ENST00000254051.6 - 4 1445 c.1287G>T c.(1285-1287)gaG>gaT p.E429D NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 429 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ACGACGTACCCTCTGGGCATG 0.507 8 723 --- --- --- --- KRT24 192666 broad.mit.edu 37 17 38859679 38859679 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:38859679C>A ENST00000264651.2 - 1 323 c.267G>T c.(265-267)ggG>ggT p.G89G NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 89 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) AGCTAGAACCCCCACCAAATC 0.567 5 119 --- --- --- --- KCNH4 23415 broad.mit.edu 37 17 40328132 40328132 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:40328132G>T ENST00000264661.3 - 5 1101 c.769C>A c.(769-771)Ccc>Acc p.P257T KCNH4_ENST00000607371.1_Missense_Mutation_p.P257T NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 257 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GAAGTGATGGGGGTGTCATCG 0.592 7 197 --- --- --- --- STAT3 6774 broad.mit.edu 37 17 40474448 40474448 + Silent SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:40474448A>G ENST00000264657.5 - 21 2265 c.1953T>C c.(1951-1953)gcT>gcC p.A651A STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 651 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.A651A(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TGATGATTTCAGCAAATGACA 0.473 Hyperimmunoglobulin E Recurrent Infection Syndrome 98 239 --- --- --- --- NAGLU 4669 broad.mit.edu 37 17 40690429 40690429 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:40690429G>T ENST00000225927.2 + 3 705 c.604G>T c.(604-606)Ggg>Tgg p.G202W RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 202 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCTGGCCTGGGGGCGAATGGG 0.587 6 262 --- --- --- --- CNTNAP1 8506 broad.mit.edu 37 17 40843875 40843875 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:40843875C>A ENST00000264638.4 + 16 2613 c.2396C>A c.(2395-2397)cCc>cAc p.P799H CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 799 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CTACGCTTCCCCCCAATCCGT 0.562 9 615 --- --- --- --- GPATCH8 23131 broad.mit.edu 37 17 42476068 42476068 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:42476068G>T ENST00000434000.1 - 9 3425 c.3143C>A c.(3142-3144)cCc>cAc p.P1048H GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1126H Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1126 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) ACCTTGTGGGGGGTCCTTGAG 0.547 5 175 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44248976 44248976 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:44248976C>A ENST00000262419.6 - 2 1004 c.534G>T c.(532-534)ggG>ggT p.G178G KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000432791.1_Silent_p.G178G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G178G NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 178 MLL1 complex protein binding CCCGTTTTCCCCCATTGAGGG 0.478 7 337 --- --- --- --- SCRN2 90507 broad.mit.edu 37 17 45915953 45915953 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:45915953G>T ENST00000407215.3 - 6 963 c.882C>A c.(880-882)ccC>ccA p.P294P SCRN2_ENST00000290216.9_Silent_p.P294P|SCRN2_ENST00000584123.1_Silent_p.P302P Q96FV2 SCRN2_HUMAN secernin 2 294 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 TGGGATCCTGGGGCAGGACAG 0.607 5 144 --- --- --- --- SNX11 29916 broad.mit.edu 37 17 46198732 46198732 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:46198732C>A ENST00000393405.2 + 8 1029 c.675C>A c.(673-675)ccC>ccA p.P225P SNX11_ENST00000580219.1_Silent_p.P217P|SNX11_ENST00000582104.1_Silent_p.P217P|SNX11_ENST00000439357.2_Silent_p.P164P|SNX11_ENST00000359238.2_Silent_p.P225P|SNX11_ENST00000452859.2_Silent_p.P81P NM_152244.1 NP_689450.1 Q9Y5W9 SNX11_HUMAN sorting nexin 11 225 cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 CTCTCCCACCCCTCTCCTCAC 0.532 7 297 --- --- --- --- HOXB1 3211 broad.mit.edu 37 17 46608169 46608169 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:46608169G>T ENST00000239174.6 - 1 190 c.98C>A c.(97-99)cCa>cAa p.P33Q HOXB1_ENST00000577092.1_Missense_Mutation_p.P33Q NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 33 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGCCGAGCTTGGGGGAAAGGA 0.622 5 168 --- --- --- --- COL1A1 1277 broad.mit.edu 37 17 48264184 48264184 + Missense_Mutation SNP C C T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:48264184C>T ENST00000225964.5 - 48 3749 c.3631G>A c.(3631-3633)Gat>Aat p.D1211N NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1211 Nonhelical region (C-terminal). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding p.D1211N(1) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CGGCCACCATCGTGAGCCTTC 0.637 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 45 122 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49057226 49057226 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:49057226C>A ENST00000262013.7 - 26 3498 c.3290G>T c.(3289-3291)tGg>tTg p.W1097L SPAG9_ENST00000505279.1_Missense_Mutation_p.W1087L|SPAG9_ENST00000357122.4_Missense_Mutation_p.W1083L|SPAG9_ENST00000510283.1_Missense_Mutation_p.W940L NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 1097 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ATCCCCCACCCACGCAAGCTG 0.473 4 155 --- --- --- --- C17orf67 339210 broad.mit.edu 37 17 54892322 54892322 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:54892322G>T ENST00000397861.2 - 6 1343 c.64C>A c.(64-66)Ccg>Acg p.P22T C17orf67_ENST00000575658.1_Missense_Mutation_p.P46T|C17orf67_ENST00000397862.2_Missense_Mutation_p.P46T Q0P5P2 CQ067_HUMAN chromosome 17 open reading frame 67 46 extracellular region NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) GTCAAAATCGGGGAGGTCTCT 0.522 8 545 --- --- --- --- CACNG5 27091 broad.mit.edu 37 17 64873579 64873579 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:64873579C>A ENST00000533854.1 + 2 366 c.129C>A c.(127-129)ccC>ccA p.P43P CACNG5_ENST00000169565.3_Silent_p.P43P|CACNG5_ENST00000307139.3_Silent_p.P43P Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 43 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TGATTGTGCCCCAGAACCAGA 0.622 4 95 --- --- --- --- COG1 9382 broad.mit.edu 37 17 71197345 71197345 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:71197345C>A ENST00000299886.4 + 7 1459 c.1379C>A c.(1378-1380)cCt>cAt p.P460H NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 460 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) AGCAACTCCCCTTCAAATAAG 0.507 6 296 --- --- --- --- DNAI2 64446 broad.mit.edu 37 17 72285780 72285780 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:72285780C>A ENST00000579490.1 + 4 821 c.686C>A c.(685-687)cCc>cAc p.P229H DNAI2_ENST00000311014.6_Missense_Mutation_p.P172H|DNAI2_ENST00000446837.2_Missense_Mutation_p.P172H|DNAI2_ENST00000307504.5_Missense_Mutation_p.P29H|DNAI2_ENST00000582036.1_Missense_Mutation_p.P172H Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 172 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCCTGGCACCCCGATGGCAAC 0.582 Kartagener syndrome 4 69 --- --- --- --- NUP85 79902 broad.mit.edu 37 17 73204669 73204669 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:73204669G>T ENST00000245544.4 + 2 152 c.81G>T c.(79-81)tgG>tgT p.W27C NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.W27C|NUP85_ENST00000447371.2_5'UTR NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 27 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) ATTTTGACTGGGGTCCAGGGG 0.363 7 583 --- --- --- --- CANT1 124583 broad.mit.edu 37 17 76993250 76993250 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:76993250C>A ENST00000302345.2 - 2 949 c.455G>T c.(454-456)gGg>gTg p.G152V CANT1_ENST00000392446.5_Missense_Mutation_p.G152V|CANT1_ENST00000591773.1_Missense_Mutation_p.G152V NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 152 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CTCCAGGACCCCATGGTCTTT 0.567 T ETV4 prostate 7 403 --- --- --- --- GAA 2548 broad.mit.edu 37 17 78079689 78079689 + Missense_Mutation SNP G G T rs145866792 byFrequency TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:78079689G>T ENST00000302262.3 + 3 907 c.688G>T c.(688-690)Gtg>Ttg p.V230L GAA_ENST00000390015.3_Missense_Mutation_p.V230L NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 230 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity p.V230L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GGACGGCCGCGTGCTGTGAGT 0.662 22 36 --- --- --- --- RPTOR 57521 broad.mit.edu 37 17 78796034 78796034 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:78796034C>A ENST00000306801.3 + 8 1286 c.924C>A c.(922-924)ccC>ccA p.P308P RPTOR_ENST00000537330.1_Silent_p.P123P|RPTOR_ENST00000570891.1_Silent_p.P308P|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P308P NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 308 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GGAGGACGCCCCTGGGTGAAC 0.622 11 417 --- --- --- --- TSPAN10 83882 broad.mit.edu 37 17 79612297 79612297 + RNA SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr17:79612297G>T ENST00000328585.4 + 0 406 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GGCTGTCAAGGGGTCTCTGGG 0.667 5 116 --- --- --- --- LPIN2 9663 broad.mit.edu 37 18 2925282 2925282 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:2925282G>T ENST00000261596.4 - 14 2116 c.1878C>A c.(1876-1878)ccC>ccA p.P626P NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 626 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) CGTGGCTCAGGGGCTCTGTGG 0.537 5 171 --- --- --- --- MYOM1 8736 broad.mit.edu 37 18 3129449 3129449 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:3129449C>A ENST00000400569.3 - 18 2908 c.2575G>T c.(2575-2577)Ggg>Tgg p.G859W MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Missense_Mutation_p.G859W P52179 MYOM1_HUMAN myomesin 1 859 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGCACGCGCCCCCTGGAGGCG 0.557 OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 185 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8819031 8819031 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:8819031C>A ENST00000359865.3 + 13 3072 c.2930C>A c.(2929-2931)cCc>cAc p.P977H SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1296H|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Missense_Mutation_p.P936H|SOGA2_ENST00000517570.1_Missense_Mutation_p.P936H NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1287 AACGTTCGCCCCTTTCCCCAC 0.527 6 152 --- --- --- --- CDH2 1000 broad.mit.edu 37 18 25565614 25565614 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:25565614G>T ENST00000269141.3 - 12 2276 c.1853C>A c.(1852-1854)cCc>cAc p.P618H CDH2_ENST00000399380.3_Missense_Mutation_p.P587H NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 618 Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AATTGAATTGGGGTCTGGAGT 0.388 6 208 --- --- --- --- DTNA 1837 broad.mit.edu 37 18 32438306 32438306 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:32438306C>A ENST00000283365.9 + 15 1689 c.1338C>A c.(1336-1338)ccC>ccA p.P446P DTNA_ENST00000597599.1_Silent_p.P443P|DTNA_ENST00000598334.1_Silent_p.P443P|DTNA_ENST00000599844.1_Silent_p.P125P|DTNA_ENST00000597674.1_Silent_p.P125P|DTNA_ENST00000598142.1_Silent_p.P446P|DTNA_ENST00000595022.1_Silent_p.P443P|DTNA_ENST00000399121.5_Silent_p.P443P|DTNA_ENST00000269192.7_Silent_p.P212P|DTNA_ENST00000399097.3_Silent_p.P151P|DTNA_ENST00000348997.5_Silent_p.P500P|DTNA_ENST00000444659.1_Silent_p.P503P|DTNA_ENST00000399113.3_Silent_p.P503P|DTNA_ENST00000596745.1_Silent_p.P253P|DTNA_ENST00000269191.6_Silent_p.P503P|DTNA_ENST00000601125.1_Silent_p.P125P|DTNA_ENST00000269190.7_Silent_p.P504P|DTNA_ENST00000556414.3_Silent_p.P155P|DTNA_ENST00000591182.1_Silent_p.P151P|DTNA_ENST00000598774.1_Silent_p.P446P NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 503 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CTTCTCAGCCCACGCCAGAGA 0.517 4 75 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45566869 45566869 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:45566869G>T ENST00000588982.1 - 3 1111 c.610C>A c.(610-612)Ccc>Acc p.P204T ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P204T A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 204 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AAGTCCCTGGGGGTGTCTGAA 0.567 5 169 --- --- --- --- CTIF 9811 broad.mit.edu 37 18 46284729 46284729 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:46284729C>A ENST00000256413.3 + 8 1319 c.1024C>A c.(1024-1026)Ctg>Atg p.L342M CTIF_ENST00000382998.4_Missense_Mutation_p.L342M NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 342 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CAAAATTACCCTGCTCCAGTC 0.537 8 495 --- --- --- --- MBD2 8932 broad.mit.edu 37 18 51690931 51690931 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:51690931G>T ENST00000256429.3 - 5 1299 c.1071C>A c.(1069-1071)ccC>ccA p.P357P NM_003927.4 NP_003918.1 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 357 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) CTTTGCAGAGGGGTTGAGATG 0.438 7 165 --- --- --- --- MC4R 4160 broad.mit.edu 37 18 58038857 58038857 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:58038857C>A ENST00000299766.3 - 1 1144 c.726G>T c.(724-726)aaG>aaT p.K242N NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 242 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) TAATCGCTCCCTTCATATTGG 0.502 6 106 --- --- --- --- SERPINB12 89777 broad.mit.edu 37 18 61223488 61223488 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:61223488C>A ENST00000382768.1 + 1 96 c.96C>A c.(94-96)ccC>ccA p.P32P SERPINB12_ENST00000269491.1_Silent_p.P32P Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 32 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TTTTCTCTCCCCTGAGCCTCT 0.438 8 470 --- --- --- --- ADNP2 22850 broad.mit.edu 37 18 77894468 77894468 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr18:77894468C>A ENST00000262198.4 + 4 1627 c.1172C>A c.(1171-1173)cCc>cAc p.P391H NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 391 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) AGTGTCCTCCCCATAAATCAG 0.542 6 206 --- --- --- --- CDC34 997 broad.mit.edu 37 19 537038 537038 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:537038C>A ENST00000215574.4 + 4 606 c.388C>A c.(388-390)Ctc>Atc p.L130I NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 130 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGTGATCTCCCTCCTGAACGA 0.627 4 91 --- --- --- --- TICAM1 148022 broad.mit.edu 37 19 4816548 4816548 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:4816548G>T ENST00000248244.5 - 2 2071 c.1842C>A c.(1840-1842)ccC>ccA p.P614P NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 614 Pro-rich.|Sufficient to induce apoptosis. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGGCTCCCAGGGGCACCTGGC 0.701 4 34 --- --- --- --- PTPRS 5802 broad.mit.edu 37 19 5218485 5218485 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:5218485G>T ENST00000372412.4 - 25 4230 c.3997C>A c.(3997-3999)Cct>Act p.P1333T PTPRS_ENST00000348075.2_Missense_Mutation_p.P1310T|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1332T|PTPRS_ENST00000353284.2_Missense_Mutation_p.P901T|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1332T|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1328T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P901T|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1310T Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1332 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGGTGGTGAGGGGCGAGGTCG 0.537 8 493 --- --- --- --- ZNF358 140467 broad.mit.edu 37 19 7584157 7584157 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:7584157C>A ENST00000597229.1 + 2 199 c.29C>A c.(28-30)cCa>cAa p.P10Q ZNF358_ENST00000394341.2_Missense_Mutation_p.P10Q|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.Q43K NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 10 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 GTCAGGAACCCAGGCCACAAA 0.582 5 168 --- --- --- --- SNAPC2 6618 broad.mit.edu 37 19 7987016 7987016 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:7987016C>A ENST00000597584.1 + 0 391 SNAPC2_ENST00000221573.6_Missense_Mutation_p.P157T|SNAPC2_ENST00000595035.1_3'UTR Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CCTGAGCGCCCCTGGAGGACA 0.662 6 190 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8152723 8152723 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:8152723C>A ENST00000600128.1 - 53 7019 c.6605G>T c.(6604-6606)gGg>gTg p.G2202V FBN3_ENST00000270509.2_Missense_Mutation_p.G2202V|FBN3_ENST00000601739.1_Missense_Mutation_p.G2202V Q75N90 FBN3_HUMAN fibrillin 3 2202 EGF-like 35; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 aCACATGGCCCCATCCTCCCG 0.562 5 168 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 8959691 8959691 + Missense_Mutation SNP G G A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:8959691G>A ENST00000397910.4 - 84 43644 c.43441C>T c.(43441-43443)Cgg>Tgg p.R14481W MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 22126 SEA 16. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R14481W(1) 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 TCCTTCTTCCGCCGGCGGGTG 0.582 8 17 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9065764 9065764 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:9065764G>T ENST00000397910.4 - 3 21885 c.21682C>A c.(21682-21684)Cct>Act p.P7228T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7230 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 AAGAAGTGAGGGGTTGATATG 0.483 7 369 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9071802 9071802 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:9071802G>T ENST00000397910.4 - 3 15847 c.15644C>A c.(15643-15645)cCc>cAc p.P5215H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5217 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 AGTACCAGTGGGGACTTTGGA 0.483 6 318 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10260302 10260302 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:10260302C>A ENST00000340748.4 - 25 2600 c.2365G>T c.(2365-2367)Ggg>Tgg p.G789W DNMT1_ENST00000540357.1_Missense_Mutation_p.G789W|DNMT1_ENST00000359526.4_Missense_Mutation_p.G805W P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 789 BAH 1. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) AACATCTGCCCGTTGCTGCTG 0.582 6 306 --- --- --- --- ZGLP1 100125288 broad.mit.edu 37 19 10418870 10418870 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:10418870G>T ENST00000403903.3 - 1 1686 c.488C>A c.(487-489)cCc>cAc p.P163H ZGLP1_ENST00000403352.1_Missense_Mutation_p.P79H|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR NM_001103167.1 NP_001096637.1 P0C6A0 ZGLP1_HUMAN zinc finger, GATA-like protein 1 163 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1) 6 CCTGTACGTGGGGATGATCTG 0.632 5 168 --- --- --- --- ILF3 3609 broad.mit.edu 37 19 10799884 10799884 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:10799884C>A ENST00000449870.1 + 20 2910 c.2593C>A c.(2593-2595)Ccg>Acg p.P865T ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000590261.1_Missense_Mutation_p.P861T|ILF3_ENST00000588657.1_Missense_Mutation_p.P865T|ILF3_ENST00000318511.3_Missense_Mutation_p.P861T NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 861 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CTACAACTCCCCGGGGTCCGG 0.612 7 272 --- --- --- --- DNM2 1785 broad.mit.edu 37 19 10935779 10935779 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:10935779C>A ENST00000314646.5 + 18 2104 c.1940C>A c.(1939-1941)cCc>cAc p.P647H DNM2_ENST00000585892.1_Missense_Mutation_p.P647H|DNM2_ENST00000359692.6_Missense_Mutation_p.P643H|DNM2_ENST00000408974.4_Missense_Mutation_p.P643H|DNM2_ENST00000389253.4_Missense_Mutation_p.P647H|DNM2_ENST00000355667.6_Missense_Mutation_p.P647H P50570 DYN2_HUMAN dynamin 2 647 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TCCATGGACCCCCAACTGGAG 0.602 """F, N, Splice, Mis, O""" ETP ALL 5 108 --- --- --- --- ZNF763 284390 broad.mit.edu 37 19 12088995 12088995 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:12088995C>A ENST00000343949.5 + 4 420 c.265C>A c.(265-267)Cag>Aag p.Q89K ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q86K|ZNF763_ENST00000591944.1_3'UTR NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 AACTTTTACCCAGGTTCCAGA 0.398 6 277 --- --- --- --- OR7A5 26659 broad.mit.edu 37 19 14938133 14938133 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:14938133C>A ENST00000322301.3 - 2 1008 c.921G>T c.(919-921)tgG>tgT p.W307C OR7A5_ENST00000594432.1_Missense_Mutation_p.W307C|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 TCATTGTTCCCCACAACAAAT 0.433 6 230 --- --- --- --- SIN3B 23309 broad.mit.edu 37 19 16973789 16973789 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:16973789G>T ENST00000379803.1 + 10 1375 c.1361G>T c.(1360-1362)gGg>gTg p.G454V SIN3B_ENST00000248054.5_Intron NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 454 Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 TATAGTGcaggggtcagcaaa 0.493 8 290 --- --- --- --- ANKLE1 126549 broad.mit.edu 37 19 17394162 17394162 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:17394162C>A ENST00000394458.3 + 5 865 c.589C>A c.(589-591)Ctt>Att p.L197I ANKLE1_ENST00000598347.1_Missense_Mutation_p.L197I|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L251I|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L186I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L219I NM_152363.4 NP_689576 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 197 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 CCCTGTTCCCCTTGAAACTGT 0.597 5 214 --- --- --- --- FAM129C 199786 broad.mit.edu 37 19 17648257 17648257 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:17648257C>A ENST00000335393.4 + 6 731 c.593C>A c.(592-594)cCc>cAc p.P198H FAM129C_ENST00000599124.1_Missense_Mutation_p.P167H|FAM129C_ENST00000332386.5_Missense_Mutation_p.P198H|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.P167H|FAM129C_ENST00000352727.3_Missense_Mutation_p.P198H|FAM129C_ENST00000600871.1_Missense_Mutation_p.P144H|FAM129C_ENST00000300971.2_Missense_Mutation_p.P198H|FAM129C_ENST00000601861.1_Missense_Mutation_p.P167H|FAM129C_ENST00000595684.1_Missense_Mutation_p.P198H NM_173544.4 NP_775815 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 198 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 CTGCAGCACCCCTTCCGCCGG 0.617 5 159 --- --- --- --- JAK3 3718 broad.mit.edu 37 19 17943457 17943457 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:17943457G>T ENST00000458235.1 - 19 2650 c.2551C>A c.(2551-2553)Ctg>Atg p.L851M JAK3_ENST00000534444.1_Missense_Mutation_p.L851M|JAK3_ENST00000527670.1_Missense_Mutation_p.L851M NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 851 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 ACGGCCACCAGGGCACCTGTA 0.587 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 140 --- --- --- --- SLC25A42 284439 broad.mit.edu 37 19 19218792 19218792 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:19218792G>T ENST00000318596.7 + 7 738 c.587G>T c.(586-588)gGg>gTg p.G196V SLC25A42_ENST00000600275.1_3'UTR NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 196 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) ACCGTGCTGGGGGTCATTCCC 0.547 5 155 --- --- --- --- NCAN 1463 broad.mit.edu 37 19 19337519 19337519 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:19337519C>A ENST00000252575.6 + 7 1396 c.1297C>A c.(1297-1299)Cct>Act p.P433T NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CAGCCCTACCCCTGGGGACCC 0.622 4 49 --- --- --- --- URI1 8725 broad.mit.edu 37 19 30476158 30476158 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:30476158C>A ENST00000542441.2 + 3 478 c.181C>A c.(181-183)Ctt>Att p.L61I URI1_ENST00000360605.4_Missense_Mutation_p.L43I|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Missense_Mutation_p.L21I O94763 RMP_HUMAN URI1, prefoldin-like chaperone 61 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding CTATAATGCCCTTCGAGAAAG 0.274 9 391 --- --- --- --- URI1 8725 broad.mit.edu 37 19 30477259 30477259 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:30477259G>T ENST00000392271.1 + 4 599 c.74G>T c.(73-75)gGg>gTg p.G25V URI1_ENST00000360605.4_Missense_Mutation_p.G83V|URI1_ENST00000542441.2_Missense_Mutation_p.G101V|URI1_ENST00000312051.6_Missense_Mutation_p.G61V NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 101 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding GTTTTACTGGGGGACAACTGG 0.398 7 276 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769507 31769507 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:31769507G>T ENST00000240587.4 - 2 1519 c.1192C>A c.(1192-1194)Ctg>Atg p.L398M NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 398 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGCTCCTGCAGGGTGTCATGC 0.572 6 228 --- --- --- --- ANKRD27 84079 broad.mit.edu 37 19 33113352 33113352 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:33113352G>T ENST00000306065.4 - 18 1961 c.1803C>A c.(1801-1803)ccC>ccA p.P601P NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 601 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CACACTTGAGGGGCGTCTCCT 0.527 8 514 --- --- --- --- CEP89 84902 broad.mit.edu 37 19 33424468 33424468 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:33424468G>T ENST00000305768.5 - 8 863 c.775C>A c.(775-777)Ctt>Att p.L259I CEP89_ENST00000590597.2_Missense_Mutation_p.L259I NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TTTAGTTCAAGGGTAAGGCTT 0.358 8 382 --- --- --- --- RHPN2 85415 broad.mit.edu 37 19 33535271 33535271 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:33535271C>A ENST00000254260.3 - 2 105 c.e2-1 RHPN2_ENST00000400226.4_Splice_Site NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GATTACAGCCCTGAGGAAAAA 0.428 6 124 --- --- --- --- KIAA0355 9710 broad.mit.edu 37 19 34832949 34832949 + Missense_Mutation SNP C C A rs142267455 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:34832949C>A ENST00000299505.6 + 10 2983 c.2110C>A c.(2110-2112)Cag>Aag p.Q704K NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 704 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ACGGGCACCCCAGGCTGGGGC 0.612 6 106 --- --- --- --- ZNF181 339318 broad.mit.edu 37 19 35231965 35231965 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:35231965C>A ENST00000392232.3 + 6 979 c.811C>A c.(811-813)Ctt>Att p.L271I ZNF181_ENST00000492450.1_Missense_Mutation_p.L227I|ZNF181_ENST00000459757.2_Missense_Mutation_p.L226I Q2M3W8 ZN181_HUMAN zinc finger protein 181 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) ATCTCTTACCCTTCCCCAGAC 0.393 7 366 --- --- --- --- LSR 51599 broad.mit.edu 37 19 35749931 35749931 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:35749931G>T ENST00000602122.1 + 3 1169 c.682G>T c.(682-684)Ggg>Tgg p.G228W LSR_ENST00000354900.3_Missense_Mutation_p.G228W|LSR_ENST00000347609.4_Missense_Mutation_p.G191W|LSR_ENST00000360798.3_Missense_Mutation_p.G228W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_Missense_Mutation_p.G228W Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 228 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGACCTCCAGGGGAACAATGA 0.592 5 113 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36210766 36210766 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:36210766C>A ENST00000222270.7 + 3 517 c.517C>A c.(517-519)Ccc>Acc p.P173T KMT2B_ENST00000420124.1_Missense_Mutation_p.P173T|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.P173T NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B GGCTCCTACCCCCCCAAAGAC 0.632 6 138 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36216191 36216191 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:36216191C>A ENST00000222270.7 + 11 3599 c.3599C>A c.(3598-3600)cCc>cAc p.P1200H KMT2B_ENST00000420124.1_Missense_Mutation_p.P1200H|KMT2B_ENST00000607650.1_RNA NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B CCAGGGGGCCCCCCGATGGTG 0.597 4 50 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37677768 37677768 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:37677768G>T ENST00000532828.2 - 5 922 c.671C>A c.(670-672)cCt>cAt p.P224H ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P169H|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAGTTATAAGGGAAACCTTT 0.393 6 237 --- --- --- --- CATSPERG 57828 broad.mit.edu 37 19 38858158 38858158 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:38858158C>A ENST00000409235.3 + 24 2895 c.2780C>A c.(2779-2781)cCc>cAc p.P927H CATSPERG_ENST00000410018.1_Missense_Mutation_p.P887H|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 927 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GTTTTCTACCCCTTCTTCTTG 0.552 11 976 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38881008 38881008 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:38881008G>T ENST00000338502.4 + 1 169 c.66G>T c.(64-66)ggG>ggT p.G22G SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Silent_p.G22G NM_001042522.2 NP_001035987.1 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 22 WH1. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGCCTGTGGGGGGCGGGGGCC 0.716 4 45 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 39039027 39039027 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:39039027C>A ENST00000355481.4 + 88 12365 c.12234C>A c.(12232-12234)ccC>ccA p.P4078P RYR1_ENST00000360985.3_Silent_p.P4078P|RYR1_ENST00000359596.3_Silent_p.P4083P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4083 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TAACGGATCCCCGTGGCCTCA 0.552 5 189 --- --- --- --- PLD3 23646 broad.mit.edu 37 19 40880402 40880402 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:40880402C>A ENST00000409587.1 + 10 1291 c.894C>A c.(892-894)ccC>ccA p.P298P PLD3_ENST00000409281.1_Silent_p.P298P|PLD3_ENST00000409419.1_Silent_p.P298P|PLD3_ENST00000409735.4_Silent_p.P298P|PLD3_ENST00000356508.5_Silent_p.P298P Q8IV08 PLD3_HUMAN phospholipase D family, member 3 298 lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) CGCCCCCACCCCTGTGTCCAA 0.597 5 151 --- --- --- --- CYP2A7 1549 broad.mit.edu 37 19 41386418 41386418 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:41386418C>A ENST00000301146.4 - 3 1000 c.459G>T c.(457-459)tcG>tcT p.S153S CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.S102S NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 153 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGAGGAAGCCCGACTCCTCCT 0.672 4 108 --- --- --- --- CEACAM4 1089 broad.mit.edu 37 19 42132091 42132091 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:42132091G>T ENST00000221954.2 - 2 418 c.308C>A c.(307-309)cCc>cAc p.P103H CEACAM4_ENST00000600925.1_Missense_Mutation_p.P103H NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 103 Ig-like V-type. integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 GGATCCATTGGGGTATACTGT 0.512 6 289 --- --- --- --- ATP1A3 478 broad.mit.edu 37 19 42490070 42490070 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:42490070C>A ENST00000545399.1 - 6 744 c.591G>T c.(589-591)aaG>aaT p.K197N ATP1A3_ENST00000543770.1_Missense_Mutation_p.K195N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K154N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K184N NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 184 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.K184K(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GGTCTCCACCCTTGATCTCCA 0.642 5 175 --- --- --- --- PSG1 5669 broad.mit.edu 37 19 43383715 43383715 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:43383715G>T ENST00000244296.2 - 1 156 c.19C>A c.(19-21)Cct>Act p.P7T PSG1_ENST00000312439.6_Missense_Mutation_p.P7T|PSG1_ENST00000436291.2_Missense_Mutation_p.P7T|PSG1_ENST00000595356.1_Missense_Mutation_p.P7T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.P7T|PSG1_ENST00000595124.1_Missense_Mutation_p.P7T NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GTGCAGGGAGGGGCTGAGAGG 0.567 6 237 --- --- --- --- ZNF283 284349 broad.mit.edu 37 19 44352689 44352689 + Missense_Mutation SNP A A G TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:44352689A>G ENST00000324461.7 + 7 2233 c.1936A>G c.(1936-1938)Aga>Gga p.R646G ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 646 R -> I (in dbSNP:rs10417624). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R646G(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TGTTCATGAGAGAACTCATAG 0.368 5 132 --- --- --- --- BCAM 4059 broad.mit.edu 37 19 45314562 45314562 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:45314562C>A ENST00000589651.1 + 2 217 c.163C>A c.(163-165)Cct>Act p.P55T BCAM_ENST00000270233.6_Missense_Mutation_p.P55T P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) Ig-like V-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GGACTGCACCCCTACGGGAAC 0.592 6 208 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911704 45911704 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:45911704G>T ENST00000309424.3 + 3 966 c.478G>T c.(478-480)Ggg>Tgg p.G160W ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G162W|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 160 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) ACCAGTCACAGGGCCTAGGTC 0.622 5 99 --- --- --- --- TPRX1 284355 broad.mit.edu 37 19 48305095 48305095 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:48305095G>T ENST00000535759.1 - 4 1463 c.1464C>A c.(1462-1464)ccC>ccA p.P488P TPRX1_ENST00000543508.1_Silent_p.P381P|TPRX1_ENST00000322175.3_Silent_p.P391P Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 391 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) CCTCCTCTTGGGGCTGAGACC 0.527 7 293 --- --- --- --- SPHK2 56848 broad.mit.edu 37 19 49131475 49131475 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:49131475G>T ENST00000443164.1 + 4 1704 c.999G>T c.(997-999)gtG>gtT p.V333V SPHK2_ENST00000598088.1_Silent_p.V271V|SPHK2_ENST00000599029.1_Silent_p.V235V|SPHK2_ENST00000599748.1_Silent_p.V235V|SPHK2_ENST00000600537.1_Silent_p.V212V|SPHK2_ENST00000245222.4_Silent_p.V271V|SPHK2_ENST00000340932.3_Silent_p.V235V|SPHK2_ENST00000601712.1_Silent_p.V235V Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 271 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) AGATGCCTGTGGGCATCCTCC 0.652 4 79 --- --- --- --- ALDH16A1 126133 broad.mit.edu 37 19 49967984 49967984 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:49967984C>A ENST00000293350.4 + 12 1696 c.1533C>A c.(1531-1533)ccC>ccA p.P511P ALDH16A1_ENST00000540132.1_Silent_p.P348P|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.P346P|ALDH16A1_ENST00000455361.2_Silent_p.P460P NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 511 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TCGCTGTTCCCTCAACCCTGC 0.617 6 273 --- --- --- --- ZNF616 90317 broad.mit.edu 37 19 52620075 52620075 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:52620075G>T ENST00000600228.1 - 4 603 c.342C>A c.(340-342)ccC>ccA p.P114P ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TGTTTTCATGGGGCACTGGCA 0.343 6 351 --- --- --- --- ZNF836 162962 broad.mit.edu 37 19 52659287 52659287 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:52659287C>A ENST00000322146.8 - 5 2170 c.1649G>T c.(1648-1650)gGg>gTg p.G550V ZNF836_ENST00000597252.1_Missense_Mutation_p.G550V|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGGTTGCTCCCCAGTATGAAT 0.373 8 418 --- --- --- --- ZNF701 55762 broad.mit.edu 37 19 53085779 53085779 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:53085779C>A ENST00000540331.1 + 5 890 c.665C>A c.(664-666)cCc>cAc p.P222H ZNF701_ENST00000391785.3_Missense_Mutation_p.P156H|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.P222H NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) ATATTTCACCCCGAAGGGAAA 0.418 6 225 --- --- --- --- VN1R2 317701 broad.mit.edu 37 19 53762616 53762616 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:53762616C>A ENST00000341702.3 + 1 1072 c.988C>A c.(988-990)Ctt>Att p.L330I VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 330 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ATGTTACGCCCTTTCCTTCAT 0.443 7 379 --- --- --- --- MIR520A 574467 broad.mit.edu 37 19 54194198 54194198 + RNA SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:54194198C>A ENST00000384862.1 + 0 64 NR_030189.1 AAGTGCTTCCCTTTGGACTGT 0.458 5 199 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54676750 54676750 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:54676750G>T ENST00000376591.4 - 1 194 c.63C>A c.(61-63)ccC>ccA p.P21P TMC4_ENST00000301187.4_Silent_p.P21P NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 21 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGGCCTCCCGGGGGGCCAGCC 0.637 7 292 --- --- --- --- LILRA1 11024 broad.mit.edu 37 19 55106604 55106604 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:55106604C>A ENST00000453777.1 + 5 568 c.398C>A c.(397-399)cCt>cAt p.P133H LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P133H|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 133 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTACCCAGCCCTGTGGTGACC 0.547 5 181 --- --- --- --- KIR3DL1 3811 broad.mit.edu 37 19 55331383 55331383 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:55331383G>T ENST00000391728.4 + 4 604 c.571G>T c.(571-573)Ggg>Tgg p.G191W KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G191W|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G191W|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G96W NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) TGCCCTTGCAGGGACCTACAG 0.552 7 510 --- --- --- --- EPS8L1 54869 broad.mit.edu 37 19 55589469 55589469 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:55589469C>A ENST00000201647.6 + 3 87 c.31C>A c.(31-33)Cca>Aca p.P11T EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 11 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGAAGCTGCCCCAAAGCCAAG 0.572 6 88 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55805464 55805464 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:55805464C>A ENST00000309383.1 + 5 815 c.538C>A c.(538-540)Ctg>Atg p.L180M BRSK1_ENST00000590333.1_Missense_Mutation_p.L196M|BRSK1_ENST00000585418.1_Missense_Mutation_p.L180M NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 180 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CATGGCGTCCCTGCAGGTGGG 0.607 7 362 --- --- --- --- NLRP9 338321 broad.mit.edu 37 19 56243925 56243925 + Missense_Mutation SNP C C A rs75470507 TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:56243925C>A ENST00000332836.2 - 2 1299 c.1272G>T c.(1270-1272)gaG>gaT p.E424D NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 424 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACATCACGCCCTCAGACTCAG 0.473 6 290 --- --- --- --- NLRP8 126205 broad.mit.edu 37 19 56482023 56482023 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:56482023G>T ENST00000291971.3 + 6 2566 c.2495G>T c.(2494-2496)gGg>gTg p.G832V NLRP8_ENST00000590542.1_Missense_Mutation_p.G832V NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 832 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGAACTGTGGGGCGTATTAC 0.478 6 307 --- --- --- --- ZNF304 57343 broad.mit.edu 37 19 57867524 57867524 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:57867524C>A ENST00000391705.3 + 4 571 c.287C>A c.(286-288)cCa>cAa p.P96Q ZNF304_ENST00000282286.5_Missense_Mutation_p.P96Q|ZNF304_ENST00000598744.1_Missense_Mutation_p.P54Q|ZNF304_ENST00000443917.2_Missense_Mutation_p.P143Q NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) ATGTGTGACCCACTCTTGAAA 0.502 4 93 --- --- --- --- ZNF304 57343 broad.mit.edu 37 19 57867922 57867922 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:57867922G>T ENST00000391705.3 + 4 969 c.685G>T c.(685-687)Ggg>Tgg p.G229W ZNF304_ENST00000282286.5_Missense_Mutation_p.G229W|ZNF304_ENST00000598744.1_Missense_Mutation_p.G187W|ZNF304_ENST00000443917.2_Missense_Mutation_p.G276W NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CGGTGATGAAGGGAAAGCCTT 0.493 5 182 --- --- --- --- ZNF587 84914 broad.mit.edu 37 19 58370392 58370392 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:58370392C>A ENST00000339656.5 + 3 794 c.612C>A c.(610-612)ccC>ccA p.P204P ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.P203P|ZNF587_ENST00000419854.1_Silent_p.P161P|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) ATGGCCCACCCTTTCAGGAGG 0.463 6 333 --- --- --- --- ZNF256 10172 broad.mit.edu 37 19 58453683 58453683 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr19:58453683C>A ENST00000282308.3 - 3 689 c.493G>T c.(493-495)Ggg>Tgg p.G165W ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 165 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) AAGGGCTTCCCAGATACTTCA 0.468 5 180 --- --- --- --- DEFB128 245939 broad.mit.edu 37 20 168756 168756 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:168756C>A ENST00000334391.4 - 2 110 c.53G>T c.(52-54)gGg>gTg p.G18V NM_001037732.1 NP_001032821.1 Q7Z7B8 DB128_HUMAN defensin, beta 128 18 defense response to bacterium extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) GAGTCTTGCCCCGTCTGTGCA 0.428 6 324 --- --- --- --- SIRPG 55423 broad.mit.edu 37 20 1616989 1616989 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:1616989G>T ENST00000381580.1 - 3 673 c.494C>A c.(493-495)cCc>cAc p.P165H RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.P198H|SIRPG_ENST00000216927.4_Missense_Mutation_p.P198H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.P198H Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 198 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 CTGTCCTGTGGGGTCCACGTT 0.567 5 151 --- --- --- --- GPCPD1 56261 broad.mit.edu 37 20 5528362 5528362 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:5528362C>A ENST00000379019.4 - 20 2176 c.1964G>T c.(1963-1965)gGg>gTg p.G655V GPCPD1_ENST00000481038.1_5'UTR NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) 655 glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity p.G655V(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 ATCAGACTCCCCACACAAAGA 0.488 7 280 --- --- --- --- PLCB1 23236 broad.mit.edu 37 20 8862392 8862392 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:8862392C>A ENST00000338037.6 + 32 3574 c.3547C>A c.(3547-3549)Cct>Act p.P1183T PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1183 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CGGTTCTGCCCCTCTCTCCCT 0.488 6 276 --- --- --- --- MKKS 8195 broad.mit.edu 37 20 10393194 10393194 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:10393194G>T ENST00000347364.3 - 3 1731 c.969C>A c.(967-969)ccC>ccA p.P323P MKKS_ENST00000399054.2_Silent_p.P323P NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome Substrate-binding apical domain. brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 TTTTAGTCAGGGGTTCCATCA 0.363 6 362 --- --- --- --- JAG1 182 broad.mit.edu 37 20 10620399 10620399 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:10620399G>T ENST00000254958.5 - 26 3919 c.3404C>A c.(3403-3405)cCc>cAc p.P1135H JAG1_ENST00000423891.2_Missense_Mutation_p.P976H NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1135 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ATCCTTGATGGGGACCGTGTT 0.478 Alagille Syndrome 5 163 --- --- --- --- NAA20 51126 broad.mit.edu 37 20 19998659 19998659 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:19998659C>A ENST00000398602.2 + 0 626 NAA20_ENST00000484480.1_Intron|NAA20_ENST00000334982.4_Intron|NAA20_ENST00000310450.4_Intron NM_181527.3 NP_852668.1 P61599 NAA20_HUMAN N(alpha)-acetyltransferase 20, NatB catalytic subunit cytoplasm|nucleus peptide alpha-N-acetyltransferase activity endometrium(3)|lung(2)|prostate(1) 6 CACTGCGTCCCCTGCAGCAGA 0.517 7 333 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25666253 25666253 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:25666253C>A ENST00000376436.1 - 3 739 c.200G>T c.(199-201)gGg>gTg p.G67V ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.G67V|ZNF337_ENST00000538750.1_Intron zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGGCACTTCCCCTTGCTCTAG 0.582 6 350 --- --- --- --- DLGAP4 22839 broad.mit.edu 37 20 35071155 35071155 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:35071155C>A ENST00000373913.3 + 6 1862 c.1382C>A c.(1381-1383)cCc>cAc p.P461H DLGAP4_ENST00000373907.2_Missense_Mutation_p.P461H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P461H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P461H Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 461 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TCCCTGATCCCCCAGTTGTTT 0.582 17 1554 --- --- --- --- RBL1 5933 broad.mit.edu 37 20 35627245 35627245 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:35627245G>T ENST00000373664.3 - 22 3190 c.3124C>A c.(3124-3126)Cct>Act p.P1042T NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 1042 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CGTTTGGCAGGGGATTCTGCA 0.398 7 204 --- --- --- --- RBL1 5933 broad.mit.edu 37 20 35668629 35668629 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:35668629G>T ENST00000373664.3 - 14 1896 c.1830C>A c.(1828-1830)ccC>ccA p.P610P RBL1_ENST00000344359.3_Silent_p.P610P NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 610 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) TTGGCATCAGGGGAAGATGTC 0.403 6 249 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37121612 37121612 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:37121612C>A ENST00000262879.6 + 3 510 c.226C>A c.(226-228)Ctt>Att p.L76I RALGAPB_ENST00000397040.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L76I Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 76 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGGACTGACCCTTCCATTGGA 0.353 6 363 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39830761 39830761 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:39830761G>T ENST00000309060.3 - 4 3211 c.2796C>A c.(2794-2796)ccC>ccA p.P932P ZHX3_ENST00000560361.1_Silent_p.P932P|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P932P|ZHX3_ENST00000432768.2_Silent_p.P932P|ZHX3_ENST00000559234.1_Silent_p.P932P Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 932 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CAGGGACACGGGGCTCCCACG 0.597 5 150 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40049243 40049243 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:40049243G>T ENST00000373233.3 - 31 6209 c.6032C>A c.(6031-6033)cCc>cAc p.P2011H NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2011 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AGGATATGTGGGGAAAACGTT 0.418 5 185 --- --- --- --- PABPC1L 80336 broad.mit.edu 37 20 43545423 43545423 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:43545423G>T ENST00000255136.3 + 3 496 c.414G>T c.(412-414)cgG>cgT p.R138R PABPC1L_ENST00000217073.2_Silent_p.R138R|PABPC1L_ENST00000537323.1_Silent_p.R138R|PABPC1L_ENST00000217074.4_Silent_p.R138R NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 138 RRM 2. nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 ATGGCTCCCGGGGTTTCGGCT 0.557 7 286 --- --- --- --- PLTP 5360 broad.mit.edu 37 20 44540149 44540149 + Translation_Start_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:44540149C>A ENST00000542937.1 - 1 537 c.3G>T c.(1-3)atG>atT p.M1I PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_5'UTR|PLTP_ENST00000372431.3_Intron|PLTP_ENST00000354050.4_Intron P55058 PLTP_HUMAN phospholipid transfer protein 0 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) CGCTTAAACCCATTCCTTGGA 0.587 3 25 --- --- --- --- NCOA3 8202 broad.mit.edu 37 20 46262785 46262785 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:46262785C>A ENST00000341724.6 + 10 1249 c.988C>A c.(988-990)Cca>Aca p.P330T NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371998.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330T Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 321 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GATATTTTCCCCAACAGCTTA 0.403 6 259 --- --- --- --- ATP9A 10079 broad.mit.edu 37 20 50245576 50245576 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:50245576C>A ENST00000338821.5 - 16 1968 c.1704G>T c.(1702-1704)aaG>aaT p.K568N ATP9A_ENST00000402822.1_Missense_Mutation_p.K447N|ATP9A_ENST00000311637.5_Missense_Mutation_p.K432N NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 568 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CATCTGCTCCCTTCATGTAAA 0.488 5 255 --- --- --- --- APCDD1L 164284 broad.mit.edu 37 20 57036205 57036205 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr20:57036205C>A ENST00000371149.3 - 4 1377 c.1147G>T c.(1147-1149)Ggg>Tgg p.G383W APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394W|APCDD1L_ENST00000491015.1_5'UTR NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 383 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GACCAGGCCCCCGCACCCCCA 0.632 5 111 --- --- --- --- TMPRSS15 5651 broad.mit.edu 37 21 19716360 19716360 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:19716360G>T ENST00000284885.3 - 11 1222 c.1189C>A c.(1189-1191)Cca>Aca p.P397T NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 397 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GGTCCAGTTGGGGTAGAAATG 0.393 6 215 --- --- --- --- KRTAP11-1 337880 broad.mit.edu 37 21 32253560 32253560 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:32253560G>T ENST00000332378.4 - 1 314 c.284C>A c.(283-285)cCc>cAc p.P95H NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 95 keratin filament structural molecule activity p.P95H(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 AGTTGAGCAGGGGTTGGAAAT 0.572 4 71 --- --- --- --- SON 6651 broad.mit.edu 37 21 34922453 34922453 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:34922453C>A ENST00000356577.4 + 3 1391 c.916C>A c.(916-918)Ctt>Att p.L306I SON_ENST00000381679.4_Missense_Mutation_p.L306I|SON_ENST00000300278.4_Missense_Mutation_p.L306I|SON_ENST00000290239.6_Missense_Mutation_p.L306I|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 306 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TTCAGAAACCCTTGTGGTATC 0.463 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 139 --- --- --- --- ITSN1 6453 broad.mit.edu 37 21 35247673 35247673 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:35247673C>A ENST00000381318.3 + 34 4477 c.4189C>A c.(4189-4191)Cct>Act p.P1397T AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1392T|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1397T|ITSN1_ENST00000399326.3_3'UTR NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1397 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 GGAAAACACCCCTGAAAACCA 0.577 5 106 --- --- --- --- SLC5A3 6526 broad.mit.edu 37 21 35467811 35467811 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:35467811G>T ENST00000608209.1 + 2 826 c.314G>T c.(313-315)gGg>gTg p.G105V SLC5A3_ENST00000381151.3_Missense_Mutation_p.G105V|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 ATCCGGTCAGGGGTATATACC 0.453 13 421 --- --- --- --- SLC5A3 6526 broad.mit.edu 37 21 35468305 35468305 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:35468305C>A ENST00000608209.1 + 2 1320 c.808C>A c.(808-810)Cca>Aca p.P270T SLC5A3_ENST00000381151.3_Missense_Mutation_p.P270T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TGGGCAGACCCCAGCTTCAGT 0.483 6 199 --- --- --- --- DSCR10 259234 broad.mit.edu 37 21 39580507 39580507 + RNA SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:39580507C>A ENST00000432141.1 + 0 629 NR_027695.1 CAAGCTGTCCCCGTGTGTATG 0.483 10 718 --- --- --- --- UMODL1 89766 broad.mit.edu 37 21 43541262 43541262 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:43541262G>T ENST00000400424.2 + 16 2935 c.2539G>T c.(2539-2541)Ggg>Tgg p.G847W UMODL1_ENST00000408910.2_Missense_Mutation_p.G919W|UMODL1_ENST00000400427.1_Missense_Mutation_p.G975W|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1047W NM_001199528.2 NP_001186457 Q5DID0 UROL1_HUMAN uromodulin-like 1 SEA 2. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 AAACACCCTCGGGTCTTTCAC 0.498 5 225 --- --- --- --- UMODL1 89766 broad.mit.edu 37 21 43543034 43543034 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:43543034C>A ENST00000400424.2 + 17 3101 c.2705C>A c.(2704-2706)cCc>cAc p.P902H UMODL1_ENST00000408910.2_Missense_Mutation_p.P974H|UMODL1_ENST00000400427.1_Missense_Mutation_p.P1030H|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1102H NM_001199528.2 NP_001186457 Q5DID0 UROL1_HUMAN uromodulin-like 1 EGF-like 3; calcium-binding (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGCACCAGCCCCACCCCCCAA 0.632 5 58 --- --- --- --- ADARB1 104 broad.mit.edu 37 21 46642109 46642109 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:46642109C>A ENST00000539173.1 + 12 2658 c.2223C>A c.(2221-2223)ccC>ccA p.P741P ADARB1_ENST00000360697.3_Silent_p.P741P|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000348831.4_Silent_p.P701P|ADARB1_ENST00000437626.1_3'UTR NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 741 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CACTCACGCCCTGACCCGGGC 0.652 4 27 --- --- --- --- LSS 4047 broad.mit.edu 37 21 47615609 47615609 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:47615609C>A ENST00000397728.3 - 19 1876 c.1798G>T c.(1798-1800)Ggg>Tgg p.G600W LSS_ENST00000522411.1_Missense_Mutation_p.G589W|LSS_ENST00000356396.4_Missense_Mutation_p.G600W|LSS_ENST00000457828.2_Missense_Mutation_p.G520W NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 600 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) TAGGTCTGCCCCATACAGGCG 0.577 5 121 --- --- --- --- DIP2A 23181 broad.mit.edu 37 21 47957170 47957170 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr21:47957170G>T ENST00000318711.7 + 14 1862 c.1679G>T c.(1678-1680)aGg>aTg p.R560M DIP2A_ENST00000417564.2_Missense_Mutation_p.R559M|DIP2A_ENST00000427143.2_Missense_Mutation_p.R495M|DIP2A_ENST00000457905.3_Missense_Mutation_p.R559M|DIP2A_ENST00000435722.3_Missense_Mutation_p.R559M|DIP2A_ENST00000400274.1_Missense_Mutation_p.R555M|DIP2A_ENST00000466639.1_Missense_Mutation_p.R516M NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 559 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GATTTCAAAAGGGATGCTGGT 0.458 7 514 --- --- --- --- MRPL40 64976 broad.mit.edu 37 22 19423373 19423373 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:19423373C>A ENST00000333130.3 + 4 1162 c.509C>A c.(508-510)cCc>cAc p.P170H HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 170 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) AACCTGTTCCCCTTTGAGAAG 0.542 4 80 --- --- --- --- CDC45 8318 broad.mit.edu 37 22 19504130 19504130 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:19504130G>T ENST00000407835.1 + 17 1777 c.1521G>T c.(1519-1521)gtG>gtT p.V507V CDC45_ENST00000437685.2_Silent_p.V539V|CDC45_ENST00000404724.3_Silent_p.V461V|CDC45_ENST00000263201.1_Silent_p.V507V O75419 CDC45_HUMAN cell division cycle 45 507 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|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 centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 TGACCGTGGTGGGCATCCCCC 0.612 4 60 --- --- --- --- IGLV2-11 28816 broad.mit.edu 37 22 23135371 23135371 + RNA SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:23135371G>T ENST00000390314.2 + 0 275 CGGCCCTCAGGGGTCCCTGAT 0.537 8 511 --- --- --- --- IGLV2-8 28817 broad.mit.edu 37 22 23165662 23165662 + RNA SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:23165662G>T ENST00000390317.2 + 0 395 CGGCCCTCAGGGGTCCCTGAT 0.552 8 458 --- --- --- --- SEZ6L 23544 broad.mit.edu 37 22 26688975 26688975 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:26688975C>A ENST00000529632.2 + 2 894 c.698C>A c.(697-699)cCc>cAc p.P233H SEZ6L_ENST00000403121.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P233H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P233H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P233H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P233H NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 233 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CAGGAGGCCCCCCAGGAGGAC 0.632 4 73 --- --- --- --- SRRD 402055 broad.mit.edu 37 22 26884425 26884425 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:26884425C>A ENST00000215917.7 + 4 594 c.580C>A c.(580-582)Ctt>Att p.L194I NM_001013694.2 NP_001013716.2 Q9UH36 SRR1L_HUMAN SRR1 domain containing rhythmic process p.L194I(1) endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CCTTAACACCCTTGGTGTGAC 0.458 6 307 --- --- --- --- CRYBA4 1413 broad.mit.edu 37 22 27021546 27021546 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:27021546C>A ENST00000354760.3 + 4 295 c.260C>A c.(259-261)cCc>cAc p.P87H CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 87 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 ACGGCCTACCCCGCCGAGAGG 0.632 7 202 --- --- --- --- THOC5 8563 broad.mit.edu 37 22 29907141 29907141 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:29907141C>A ENST00000490103.1 - 19 2064 c.1942G>T c.(1942-1944)Ggg>Tgg p.G648W THOC5_ENST00000397871.1_Missense_Mutation_p.G648W|THOC5_ENST00000397872.1_Missense_Mutation_p.G648W|THOC5_ENST00000397873.2_Missense_Mutation_p.G648W NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 648 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCCTTGGGCCCCTCCACACTG 0.587 5 175 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30057273 30057273 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:30057273C>A ENST00000338641.4 + 8 1196 c.755C>A c.(754-756)cCc>cAc p.P252H NF2_ENST00000347330.5_Missense_Mutation_p.P93H|NF2_ENST00000403999.3_Missense_Mutation_p.P252H|NF2_ENST00000361676.4_Missense_Mutation_p.P210H|NF2_ENST00000334961.7_Missense_Mutation_p.P169H|NF2_ENST00000397789.3_Missense_Mutation_p.P252H|NF2_ENST00000403435.1_Missense_Mutation_p.P252H|NF2_ENST00000361452.4_Missense_Mutation_p.P211H|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.P169H|NF2_ENST00000361166.4_Missense_Mutation_p.P252H NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 252 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.R249fs*8(1)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 AGACTGACCCCCAAGATCTCC 0.498 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 5 182 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30412587 30412587 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:30412587G>T ENST00000333027.3 + 15 1902 c.1574G>T c.(1573-1575)gGg>gTg p.G525V CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.G525V|MTMR3_ENST00000401950.2_Missense_Mutation_p.G525V|MTMR3_ENST00000323630.5_Missense_Mutation_p.G389V|MTMR3_ENST00000406629.1_Missense_Mutation_p.G525V NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 525 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AAGGAGAGAGGGGAAAAGCAT 0.478 7 315 --- --- --- --- RBFOX2 23543 broad.mit.edu 37 22 36177715 36177715 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:36177715G>T ENST00000405409.2 - 3 699 c.331C>A c.(331-333)Ccg>Acg p.P111T RBFOX2_ENST00000449924.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P110T|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P90T|RBFOX2_ENST00000438146.2_Missense_Mutation_p.P181T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P91T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P110T NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2 NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1 O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 120 estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 AGCCGTTTCGGGGTAGATTTA 0.458 6 344 --- --- --- --- GGA1 26088 broad.mit.edu 37 22 38010280 38010280 + Splice_Site SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:38010280G>T ENST00000343632.4 + 2 513 c.127G>T c.(127-129)Ggg>Tgg p.G43W GGA1_ENST00000414350.3_Splice_Site_p.G43W|GGA1_ENST00000325180.8_Splice_Site_p.G43W|GGA1_ENST00000381756.5_Splice_Site_p.G43W|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Splice_Site_p.G43W|GGA1_ENST00000337437.4_Splice_Site_p.G43W NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 43 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding p.G43R(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GGACTTTGAGGGGTAGGTGGC 0.592 4 56 --- --- --- --- EIF3L 51386 broad.mit.edu 37 22 38258978 38258978 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:38258978G>T ENST00000412331.2 + 6 1020 c.438G>T c.(436-438)ggG>ggT p.G146G EIF3L_ENST00000406934.1_Silent_p.G48G|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 146 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTTTACAGGGGGGACCTTCCT 0.378 6 218 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41527561 41527561 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:41527561C>A ENST00000263253.7 + 6 2671 c.1452C>A c.(1450-1452)ccC>ccA p.P484P NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 484 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CGACACAACCCCAGGTGCAAG 0.498 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 5 138 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41551078 41551078 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:41551078C>A ENST00000263253.7 + 17 4441 c.3222C>A c.(3220-3222)ccC>ccA p.P1074P NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1074 Bromo. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AATCCCTTCCCTTTCGTCAAC 0.383 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 8 566 --- --- --- --- L3MBTL2 83746 broad.mit.edu 37 22 41605896 41605896 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:41605896C>A ENST00000216237.5 + 2 379 c.221C>A c.(220-222)cCt>cAt p.P74H RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 74 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTGCTCAGCCCTGGGACTCCT 0.567 5 180 --- --- --- --- POLDIP3 84271 broad.mit.edu 37 22 42998805 42998805 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:42998805G>T ENST00000252115.5 - 2 525 c.421C>A c.(421-423)Cct>Act p.P141T POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P141T|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.P141T NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 141 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 TTCAGAGCAGGGGTCACTGTC 0.532 6 186 --- --- --- --- EFCAB6 64800 broad.mit.edu 37 22 44178084 44178084 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:44178084G>T ENST00000262726.7 - 3 368 c.115C>A c.(115-117)Cca>Aca p.P39T EFCAB6_ENST00000358439.4_Silent_p.P3P|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_Silent_p.P3P NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AACTTATTTGGGGAACCATTC 0.358 8 267 --- --- --- --- TRMU 55687 broad.mit.edu 37 22 46733731 46733731 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:46733731G>T ENST00000290846.4 + 2 478 c.138G>T c.(136-138)ggG>ggT p.G46G TRMU_ENST00000424260.2_Silent_p.G11G|TRMU_ENST00000381019.3_Silent_p.G46G NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 46 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) ATGAACATGGGGTCTGTACTG 0.453 5 170 --- --- --- --- KLHDC7B 113730 broad.mit.edu 37 22 50987604 50987604 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chr22:50987604C>A ENST00000395676.2 + 1 1143 c.1009C>A c.(1009-1011)Cag>Aag p.Q337K NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 337 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCCCTGACCCAGGTGCCCGA 0.697 5 187 --- --- --- --- PPP2R3B 28227 broad.mit.edu 37 X 307979 307979 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:307979G>T ENST00000390665.3 - 4 725 c.707C>A c.(706-708)cCc>cAc p.P236H NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 236 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGCAAGAAGGGGACAAAGTC 0.617 5 139 --- --- --- --- BMX 660 broad.mit.edu 37 X 15534241 15534241 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:15534241G>T ENST00000357607.2 + 5 520 c.332G>T c.(331-333)aGg>aTg p.R111M BMX_ENST00000342014.6_Missense_Mutation_p.R111M|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.R111M P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 111 PH. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TCAGAGATAAGGGGTAACCCC 0.478 5 159 --- --- --- --- GPR64 10149 broad.mit.edu 37 X 19031991 19031991 + Silent SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:19031991G>T ENST00000354791.3 - 15 1105 c.864C>A c.(862-864)ccC>ccA p.P288P GPR64_ENST00000360279.4_Silent_p.P282P|GPR64_ENST00000340581.3_Silent_p.P274P|GPR64_ENST00000379876.1_Silent_p.P280P|GPR64_ENST00000379869.3_Silent_p.P304P|GPR64_ENST00000357544.3_Silent_p.P274P|GPR64_ENST00000356606.4_Silent_p.P290P|GPR64_ENST00000379873.2_Silent_p.P304P|GPR64_ENST00000379878.3_Silent_p.P288P|GPR64_ENST00000357991.3_Silent_p.P301P Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 304 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) CTGAAGGCTGGGGTGAAAGGG 0.557 4 84 --- --- --- --- RPS6KA3 6197 broad.mit.edu 37 X 20185708 20185708 + Splice_Site SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:20185708C>A ENST00000379565.3 - 17 1808 c.1601G>T c.(1600-1602)gGg>gTg p.G534V RPS6KA3_ENST00000379548.4_Splice_Site_p.G504V|RPS6KA3_ENST00000540702.1_Splice_Site_p.G505V|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Splice_Site_p.G506V NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 534 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 AAGACTTACCCCTTGTGCGTG 0.343 6 239 --- --- --- --- PHEX 5251 broad.mit.edu 37 X 22132642 22132642 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:22132642C>A ENST00000379374.4 + 11 1805 c.1240C>A c.(1240-1242)Ctc>Atc p.L414I PHEX_ENST00000535894.1_Missense_Mutation_p.L317I|PHEX_ENST00000418858.3_Missense_Mutation_p.L117I|PHEX_ENST00000537599.1_Missense_Mutation_p.L414I NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 414 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TGAAAGTGCCCTCCCTTATGT 0.403 5 122 --- --- --- --- IL1RAPL1 11141 broad.mit.edu 37 X 29972728 29972728 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:29972728C>A ENST00000378993.1 + 10 1964 c.1291C>A c.(1291-1293)Ctt>Att p.L431I IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 431 TIR. 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 p.L431I(4) 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 ACGTTTTGCCCTTGAAATCCT 0.348 5 115 --- --- --- --- BTK 695 broad.mit.edu 37 X 100613415 100613415 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:100613415C>A ENST00000308731.7 - 12 1148 c.985G>T c.(985-987)Ggg>Tgg p.G329W BTK_ENST00000372880.1_Missense_Mutation_p.G329W NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 329 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CGTATCACCCCTTGAGGGTCC 0.473 Agammaglobulinemia, X-linked 4 111 --- --- --- --- ARMCX2 9823 broad.mit.edu 37 X 100911778 100911778 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:100911778C>A ENST00000328766.5 - 5 1250 c.797G>T c.(796-798)gGg>gTg p.G266V ARMCX2_ENST00000356824.4_Missense_Mutation_p.G266V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G266V NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 266 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CGGTATAGCCCCAGTGTGAGC 0.587 5 144 --- --- --- --- CAPN6 827 broad.mit.edu 37 X 110494932 110494932 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:110494932C>A ENST00000324068.1 - 6 905 c.738G>T c.(736-738)tgG>tgT p.W246C CAPN6_ENST00000541758.1_5'UTR NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 246 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 TCAGCAGACCCCAATCAGTTT 0.453 7 426 --- --- --- --- TRPC5 7224 broad.mit.edu 37 X 111025269 111025269 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:111025269G>T ENST00000262839.2 - 8 2912 c.1994C>A c.(1993-1995)cCc>cAc p.P665H NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 665 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTTGGGGCTGGGGATGATGTT 0.488 5 148 --- --- --- --- ACTRT1 139741 broad.mit.edu 37 X 127185484 127185484 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:127185484C>A ENST00000371124.3 - 1 898 c.702G>T c.(700-702)cgG>cgT p.R234R NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 234 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 GGACCTCTCCCCGGCTCTTGC 0.512 5 166 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129159054 129159054 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:129159054C>A ENST00000540052.1 + 6 3822 c.3778C>A c.(3778-3780)Ccc>Acc p.P1260T BCORL1_ENST00000218147.7_Missense_Mutation_p.P1260T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1260T|BCORL1_ENST00000359304.2_Intron NM_021946.4 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1260 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GGAGGTAACCCCCACCCCAGC 0.577 5 120 --- --- --- --- OR13H1 347468 broad.mit.edu 37 X 130678846 130678846 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:130678846C>A ENST00000338616.3 + 1 897 c.799C>A c.(799-801)Cct>Act p.P267T NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) CAAGTCCTACCCTGACCAGGA 0.453 5 186 --- --- --- --- ZIC3 7547 broad.mit.edu 37 X 136652080 136652080 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:136652080C>A ENST00000287538.5 + 3 1805 c.1255C>A c.(1255-1257)Cct>Act p.P419T ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 419 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) AGATTCCTCCCCTGCTGCCAG 0.403 5 156 --- --- --- --- MAGEC3 139081 broad.mit.edu 37 X 140985097 140985097 + Missense_Mutation SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:140985097C>A ENST00000298296.1 + 7 1553 c.1553C>A c.(1552-1554)cCc>cAc p.P518H MAGEC3_ENST00000536088.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P140H NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 518 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GATATGGACCCCGACAACCAC 0.448 5 188 --- --- --- --- AFF2 2334 broad.mit.edu 37 X 147733627 147733627 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:147733627G>T ENST00000370460.2 + 2 634 c.155G>T c.(154-156)gGg>gTg p.G52V AFF2_ENST00000370458.1_Missense_Mutation_p.G52V|AFF2_ENST00000370457.5_Missense_Mutation_p.G52V|AFF2_ENST00000342251.3_Missense_Mutation_p.G52V NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 52 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GATCTTTTTGGGGAGCCATAC 0.368 5 182 --- --- --- --- MAGEA11 4110 broad.mit.edu 37 X 148798186 148798186 + Missense_Mutation SNP G G T TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:148798186G>T ENST00000355220.5 + 5 1142 c.1040G>T c.(1039-1041)aGg>aTg p.R347M MAGEA11_ENST00000333104.4_Missense_Mutation_p.R318M NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 347 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TATGCTGGAAGGGAGCACTTC 0.537 7 251 --- --- --- --- CNGA2 1260 broad.mit.edu 37 X 150909341 150909341 + Silent SNP C C A TCGA-CH-5739-01A-11D-1576-08 TCGA-CH-5739-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71bae8ec-736d-4d84-8645-fbbd122caeec c97d9803-fce4-4921-bc37-6dbe062f09d4 g.chrX:150909341C>A ENST00000329903.4 + 4 483 c.450C>A c.(448-450)ccC>ccA p.P150P NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 150 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) TTGCCATGCCCGTCCTTTACA 0.557 4 168 --- --- --- ---