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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CUX2 23316 broad.mit.edu 37 12 111776230 111776230 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:111776230C>T uc001tsa.2 + 19 3491 c.3337C>T c.(3337-3339)Ccc>Tcc p.P1113S NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1113 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCTCAATGACCCCCATAACGT 0.587000 25 25 0 0 0.027356 0 0 FIG4 9896 broad.mit.edu 37 6 110088053 110088053 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:110088053G>A uc003ptt.2 + 14 1920 c.1705G>A c.(1705-1707)Gac>Aac p.D569N FIG4_uc011eau.1_Missense_Mutation_p.D292N NM_014845 NP_055660 Q92562 FIG4_HUMAN Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA. 569 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GCACTCCAAAGACATCATGCA 0.388000 51 14 0 0 0.024245 0 0 ACMSD 130013 broad.mit.edu 37 2 135616917 135616917 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:135616917G>A uc002ttz.3 + 2 256 c.189G>A c.(187-189)atG>atA p.M63I ACMSD_uc002tua.3_Nonsense_Mutation_p.W22* NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA. 63 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TTAGAGAAATGGACCAAAAAG 0.423000 44 7 0 0 0.006214 0 0 ACVRL1 94 broad.mit.edu 37 12 52309043 52309043 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:52309043G>A uc001rzj.3 + 6 1090 c.807G>A c.(805-807)tcG>tcA p.S269S ACVRL1_uc001rzk.3_Silent_p.S269S|ACVRL1_uc010snm.2_Silent_p.S95S NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 269 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCCGCAACTCGAGCACGCAGC 0.612000 12 31 0 0 0.054565 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110376846 110376846 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:110376846G>A uc003yne.3 + 1 248 c.144G>A c.(142-144)agG>agA p.R48R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 48 IPT/TIG 1. immune response cytosol|extracellular space|integral to membrane receptor activity p.T47K(1) 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) GAGCAACAAGGCTGACTATAA 0.328000 HNSCC(38;0.096) 6 5 0 0 0.014758 0 0 DCLK3 85443 broad.mit.edu 37 3 36759615 36759615 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:36759615G>A uc003cgi.2 - 3 2130 c.1639C>T c.(1639-1641)Ctg>Ttg p.L547L NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 547 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 AAGCCACACAGCAGGATATAG 0.577000 52 39 0 0 0.039052 0 0 SYT10 341359 broad.mit.edu 37 12 33579303 33579303 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:33579303G>A uc001rll.1 - 1 576 c.279C>T c.(277-279)atC>atT p.I93I SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 93 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GAAGCGTAGTGATGTTGGAAG 0.423000 18 13 0 0 0.016723 0 0 HIF1A 3091 broad.mit.edu 37 14 62205061 62205061 + Silent SNP C T T rs149282253 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:62205061C>T uc001xfq.2 + 9 1910 c.1506C>T c.(1504-1506)tcC>tcT p.S502S HIF1A_uc001xfr.2_Silent_p.S502S|HIF1A_uc001xfs.2_Silent_p.S503S|HIF1A_uc021rua.1_Silent_p.S526S NM_001530 NP_001521 Q16665 HIF1A_HUMAN Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA. 502 ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) CTAGTCCTTCCGATGGAAGCA 0.378000 125 100 0 0 0.048971 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814624 56814625 + Nonsense_Mutation DNP GG AA AA TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:56814624_56814625GG>AA uc001slf.2 - 24 3249_3250 c.3081_3082CC>TT c.(3079-3084)atccga>atTTga p.R1028* NM_003920 NP_003911 Q9UNS1 TIM_HUMAN Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA. 1028 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TCAGCTGCTCGGATCAGGCAGT 0.525000 44 14 0 0 0.004672 0 0 HLCS 3141 broad.mit.edu 37 21 38269242 38269242 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:38269242G>A uc010gnb.3 - 6 2783 c.1369C>T c.(1369-1371)Cgc>Tgc p.R457C HLCS_uc021wjb.1_Missense_Mutation_p.R457C|HLCS_uc002yvs.3_Missense_Mutation_p.R457C NM_001242784 NP_001229713 P50747 BPL1_HUMAN Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA. 457 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AGATTTTGGCGATAGATCTCT 0.468000 35 10 0 0 0.006214 0 0 ACVR1 90 broad.mit.edu 37 2 158634711 158634711 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:158634711G>A uc002tzn.3 - 4 905 c.475C>T c.(475-477)Ccc>Tcc p.P159S ACVR1_uc002tzm.3_Missense_Mutation_p.P159S|ACVR1_uc010fog.2_Missense_Mutation_p.P159S NM_001105 NP_001104537 Q04771 ACVR1_HUMAN Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA. 159 BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) ACGTCTCGGGGATTGAGGCGT 0.493000 29 20 0 0 0.018920 0 0 MAGI2 9863 broad.mit.edu 37 7 77708388 77708388 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:77708388G>A uc003ugx.3 - 20 3836 c.3582C>T c.(3580-3582)atC>atT p.I1194I MAGI2_uc003ugy.3_Silent_p.I1180I|MAGI2_uc010ldx.1_Silent_p.I787I NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 1194 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGATTTCAATGATTTGATCTC 0.393000 115 76 0 0 0.048971 0 0 DNAH17 8632 broad.mit.edu 37 17 76533472 76533472 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:76533472C>T uc010dhp.2 - 18 2893 c.2768G>A c.(2767-2769)gGc>gAc p.G923D NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGCCAGGAAGCCGCGATCTGA 0.587000 4 4 0 0 0.021553 0 0 C5orf42 65250 broad.mit.edu 37 5 37196031 37196031 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:37196031C>T uc011cpa.1 - 20 3971 c.3740G>A c.(3739-3741)gGa>gAa p.G1247E C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.G322E|C5orf42_uc011cpb.1_Missense_Mutation_p.G128E NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1247 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGCGATACCTCCTTTACAGTA 0.378000 30 28 0 0 0.030593 0 0 CDH18 1016 broad.mit.edu 37 5 19473754 19473754 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:19473754G>A uc003jgd.3 - 12 2488 c.1954C>T c.(1954-1956)Cgg>Tgg p.R652W CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.R652W|CDH18_uc021xwu.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 652 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) ACGTTCTCCCGTACATCCTCT 0.478000 145 40 0 0 0.033182 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648870 41648871 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:41648870_41648871CC>TT uc003gvz.4 + 16 3197_3198 c.2780_2781CC>TT c.(2779-2781)tcc>tTT p.S927F LIMCH1_uc003gwe.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvu.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvv.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvw.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvx.4_Missense_Mutation_p.S530F|LIMCH1_uc003gvy.4_Missense_Mutation_p.S371F|LIMCH1_uc003gwa.4_Missense_Mutation_p.S383F|LIMCH1_uc011byu.2_Missense_Mutation_p.S376F|LIMCH1_uc003gwc.4_Missense_Mutation_p.S388F|LIMCH1_uc003gwd.4_Missense_Mutation_p.S376F|LIMCH1_uc011byv.2_Missense_Mutation_p.S293F NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 542 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AAGCCTTACTCCCAGCCCAAAA 0.490000 45 37 0 0 0.004672 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648816 41648816 + Missense_Mutation SNP C A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:41648816C>A uc003gvz.4 + 16 3143 c.2726C>A c.(2725-2727)cCa>cAa p.P909Q LIMCH1_uc003gwe.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvu.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvv.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvw.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvx.4_Missense_Mutation_p.P512Q|LIMCH1_uc003gvy.4_Missense_Mutation_p.P353Q|LIMCH1_uc003gwa.4_Missense_Mutation_p.P365Q|LIMCH1_uc011byu.2_Missense_Mutation_p.P358Q|LIMCH1_uc003gwc.4_Missense_Mutation_p.P370Q|LIMCH1_uc003gwd.4_Missense_Mutation_p.P358Q|LIMCH1_uc011byv.2_Missense_Mutation_p.P275Q NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA. 524 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AGTGGGTCTCCAAGCAAAACT 0.502000 53 63 6.09941e-20 6.52801e-20 0.048971 1 0 POLR2D 5433 broad.mit.edu 37 2 128608249 128608250 + Nonsense_Mutation DNP GG AA AA TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:128608249_128608250GG>AA uc002tpj.3 - 2 319_320 c.264_265CC>TT c.(262-267)ctccag>ctTTag p.Q89* NM_004805 NP_004796 O15514 RPB4_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide D (POLR2D), mRNA. 89 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding large_intestine(1)|lung(4)|urinary_tract(1) 6 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) AGCTTTTTCTGGAGtagcaagc 0.361000 29 27 0 0 0.004672 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127589 117127589 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:117127589G>A uc003pxj.1 - 2 1301 c.1279C>T c.(1279-1281)Cgg>Tgg p.R427W GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.R427W NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA. 427 response to amino acid stimulus G-protein coupled receptor activity p.R427Q(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CACAGATCCCGAATGGCATAA 0.458000 16 9 0 0 0.006214 0 0 PLEC 5339 broad.mit.edu 37 8 145001238 145001238 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:145001238G>A uc003zaf.1 - 28 4433 c.4263C>T c.(4261-4263)ctC>ctT p.L1421L PLEC_uc003zab.1_Silent_p.L1284L|PLEC_uc003zac.1_Silent_p.L1288L|PLEC_uc003zad.2_Silent_p.L1284L|PLEC_uc003zae.1_Silent_p.L1252L|PLEC_uc003zag.1_Silent_p.L1262L|PLEC_uc003zah.2_Silent_p.L1270L|PLEC_uc003zaj.2_Silent_p.L1311L NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 1421 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCACCAGCTGGAGTTCATAGT 0.627000 17 11 0 0 0.010729 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275831 130275831 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:130275831C>T uc001qgg.4 - 8 2650 c.2292G>A c.(2290-2292)ctG>ctA p.L764L ADAMTS8_uc001qgf.3_Silent_p.L245L NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 764 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CGCTGTACTTCAGGATGGTCC 0.617000 29 43 0 0 0.033182 0 0 IARS2 55699 broad.mit.edu 37 1 220275523 220275523 + Silent SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:220275523T>C uc001hmc.3 + 3 707 c.603T>C c.(601-603)cgT>cgC p.R201R RNU5F-1_uc021pjd.1_Intron NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA. 201 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CATTTATTCGTTGGGGAATAA 0.313000 40 16 0 0 0.043863 0 0 C15orf2 23742 broad.mit.edu 37 15 24922213 24922213 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:24922213C>T uc001ywo.3 + 0 1673 c.1199C>T c.(1198-1200)tCt>tTt p.S400F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 400 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCTGCCCCTTCTTTCTCCCAA 0.532000 23 4 0 0 0.014758 0 0 IKBKAP 8518 broad.mit.edu 37 9 111663953 111663953 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr9:111663953G>A uc004bdm.4 - 16 2383 c.1863C>T c.(1861-1863)gtC>gtT p.V621V IKBKAP_uc004bdl.3_Silent_p.V272V|IKBKAP_uc011lwc.2_Silent_p.V507V|IKBKAP_uc010mtq.3_Silent_p.V272V NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 621 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCAGACCAAGGACACATTCCT 0.388000 22 8 0 0 0.006214 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956421 143956421 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:143956421G>A uc010mey.3 - 9 1570 c.1563C>T c.(1561-1563)tgC>tgT p.C521C CYP11B1_uc010mex.3_Silent_p.C149C|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Silent_p.C450C|CYP11B1_uc003yxj.3_Intron NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 450 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCCGCCCAAGGCACTGGCGCA 0.682000 Familial Hyperaldosteronism type I 57 37 0 0 0.027894 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152518 50152518 + Missense_Mutation SNP T A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:50152518T>A uc001zxu.3 - 27 3594 c.3452A>T c.(3451-3453)aAa>aTa p.K1151I ATP8B4_uc010ber.3_Missense_Mutation_p.K1024I|ATP8B4_uc010ufd.2_Missense_Mutation_p.K961I|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.K154I NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 1151 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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGGTGGATTTTTAGCTCGCAT 0.448000 59 19 0 0 0.038395 0 0 COL4A6 1288 broad.mit.edu 37 X 107431170 107431170 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:107431170G>A uc004enw.4 - 21 1781 c.1678C>T c.(1678-1680)Cgg>Tgg p.R560W COL4A6_uc004env.4_Missense_Mutation_p.R559W|COL4A6_uc011msn.2_Missense_Mutation_p.R559W|COL4A6_uc010npk.3_Missense_Mutation_p.R559W NM_001847 NP_001838 Q14031 CO4A6_HUMAN Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA. 560 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.R559W(2) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GAATCACCCCGATCTCCTGGC 0.537000 Alport syndrome with Diffuse Leiomyomatosis 12 99 0 0 0.048971 0 0 C15orf54 400360 broad.mit.edu 37 15 39544718 39544719 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:39544718_39544719GG>AA uc001zkg.2 + 1 750_751 c.382_383GG>AA c.(382-384)ggg>AAg p.G128K C15orf54_uc021sjb.1_Missense_Mutation_p.G128K NM_207445 NP_997328 Q8N8G6 CO054_HUMAN Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA. 128 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TCAGTCTCCTGGGTGGAAGAAC 0.470000 69 28 0 0 0.004672 0 0 TGM6 343641 broad.mit.edu 37 20 2411160 2411160 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr20:2411160C>T uc002wfy.1 + 10 1808 c.1747C>T c.(1747-1749)Ctg>Ttg p.L583L TGM6_uc010gal.1_Silent_p.L583L NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 583 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CAAGAAGATCCTGTTGGCTGC 0.473000 23 23 0 0 0.012319 0 0 SPEF2 79925 broad.mit.edu 37 5 35793359 35793359 + Missense_Mutation SNP G T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:35793359G>T uc003jjo.3 + 31 4764 c.4653G>T c.(4651-4653)gaG>gaT p.E1551D SPEF2_uc003jjp.1_Missense_Mutation_p.E1037D|SPEF2_uc003jjr.3_Missense_Mutation_p.E606D NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1551 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCCCTTGGAGGAGGAGCTCC 0.478000 65 16 1.15088e-07 1.21209e-07 0.028581 1 0 KRT20 54474 broad.mit.edu 37 17 39041328 39041328 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:39041328C>T uc002hvl.3 - 0 168 c.110G>A c.(109-111)gGg>gAg p.G37E NM_019010 NP_061883 P35900 K1C20_HUMAN Homo sapiens keratin 20 (KRT20), mRNA. 37 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TCCAGCACCCCCATAAACGCT 0.612000 8 34 0 0 0.023175 0 0 CHRDL2 25884 broad.mit.edu 37 11 74415556 74415556 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:74415556G>A uc001ovh.3 - 6 979 c.726C>T c.(724-726)atC>atT p.I242I CHRDL2_uc001ovg.3_Silent_p.I126I|CHRDL2_uc001ovi.3_Silent_p.I242I|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Silent_p.I242I NM_015424 NP_056239 Q6WN34 CRDL2_HUMAN Homo sapiens chordin-like 2 (CHRDL2), mRNA. 242 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CCTTCAGGACGATCTTGACAG 0.637000 37 14 0 0 0.020292 0 0 S100A7 6278 broad.mit.edu 37 1 153430314 153430314 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:153430314C>T uc001fbv.1 - 2 345 c.274G>A c.(274-276)Gga>Aga p.G92R NM_002963 NP_002954 P31151 S10A7_HUMAN Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA. 92 angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus RAGE receptor binding|calcium ion binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCGCTGCTCCATGGCTCTGC 0.517000 51 19 0 0 0.049695 0 0 NLRP3 114548 broad.mit.edu 37 1 247587726 247587726 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:247587726G>A uc001icr.3 + 4 1119 c.981G>A c.(979-981)cgG>cgA p.R327R NLRP3_uc001ics.3_Silent_p.R327R|NLRP3_uc001icu.3_Silent_p.R327R|NLRP3_uc001icw.3_Silent_p.R327R|NLRP3_uc001icv.3_Silent_p.R327R|NLRP3_uc010pyw.2_Silent_p.R325R|NLRP3_uc001ict.1_Silent_p.R325R NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 327 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.R327G(1)|p.R327P(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGCCGAGCGGGGAGACATTC 0.582000 40 18 0 0 0.038395 0 0 GPR116 221395 broad.mit.edu 37 6 46849211 46849211 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:46849211G>A uc003oyo.3 - 7 1084 c.795C>T c.(793-795)tcC>tcT p.S265S GPR116_uc003oyp.3_Silent_p.S265S|GPR116_uc003oyq.3_Silent_p.S265S|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.S265S NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 265 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTGCTTGAAAGGAGTTGTAGT 0.353000 45 29 0 0 0.045705 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86548562 86548562 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:86548562G>A uc011kha.2 - 10 1649 c.1464C>T c.(1462-1464)atC>atT p.I488I KIAA1324L_uc003uie.3_Silent_p.I321I|KIAA1324L_uc011kgz.2_Silent_p.I374I|KIAA1324L_uc003uif.2_Silent_p.I240I NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 488 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GCAAGTTTAAGATCAGGTAAT 0.363000 26 16 0 0 0.014323 0 0 CDC123 8872 broad.mit.edu 37 10 12259431 12259431 + Missense_Mutation SNP G T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:12259431G>T uc001ill.3 + 5 689 c.405G>T c.(403-405)aaG>aaT p.K135N NM_006023 NP_006014 O75794 CD123_HUMAN Homo sapiens cell division cycle 123 homolog (S. cerevisiae) (CDC123), mRNA. 135 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 TGCTTTTCAAGAGTTCCGATT 0.368000 174 86 1.63549e-45 1.75993e-45 0.048971 1 0 FARSA 2193 broad.mit.edu 37 19 13041108 13041108 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:13041108C>T uc002mvs.2 - 3 480 c.432G>A c.(430-432)cgG>cgA p.R144R FARSA_uc010xmv.1_Silent_p.R144R NM_004461 NP_004452 Q9Y285 SYFA_HUMAN Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA. 144 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding p.R144W(1)|p.R144R(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CCTGTCCCCCCCGGACCAGCT 0.652000 13 36 0 0 0.054565 0 0 SLC34A2 10568 broad.mit.edu 37 4 25676182 25676182 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:25676182C>T uc003grr.3 + 11 1470 c.1389C>T c.(1387-1389)atC>atT p.I463I SLC34A2_uc003grs.3_Silent_p.I462I|SLC34A2_uc010iev.3_Silent_p.I462I NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 463 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GCTCCAACATCGGCACCACCA 0.592000 T ROS1 NSCLC 64 19 0 0 0.043863 0 0 PTPRB 5787 broad.mit.edu 37 12 71016398 71016398 + Missense_Mutation SNP C A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:71016398C>A uc001swc.4 - 2 525 c.480G>T c.(478-480)agG>agT p.R160S PTPRB_uc001swa.4_Missense_Mutation_p.R160S|PTPRB_uc001swd.4_Missense_Mutation_p.R159S|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.R160S NM_001109754 NP_001103224 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA. 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTCTAGTGCTCCTCACCGAAA 0.413000 4 6 0.00198382 0.00205652 0.029380 1 0 CPAMD8 27151 broad.mit.edu 37 19 17025308 17025308 + Splice_Site SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:17025308C>T uc002nfb.3 - 29 3960 c.3928_splice c.e29-1 p.G1310_splice NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1263 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGGATCCCACCCTGCAAGGGG 0.612000 18 18 0 0 0.038395 0 0 EPHA6 285220 broad.mit.edu 37 3 97251304 97251304 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:97251304G>A uc010how.1 + 10 2346 c.2303G>A c.(2302-2304)aGa>aAa p.R768K EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.R134K|EPHA6_uc003drs.4_Missense_Mutation_p.R160K|EPHA6_uc003drr.4_Missense_Mutation_p.R160K|EPHA6_uc003drt.3_Missense_Mutation_p.R160K|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 673 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.D767Y(1) 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 GATCGGCAAAGAAGAGATTTT 0.438000 29 11 0 0 0.008291 0 0 BEND4 389206 broad.mit.edu 37 4 42145778 42145778 + Missense_Mutation SNP G C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:42145778G>C uc003gwn.3 - 2 1301 c.721C>G c.(721-723)Caa>Gaa p.Q241E BEND4_uc003gwm.3_Missense_Mutation_p.Q241E|BEND4_uc011byy.1_Missense_Mutation_p.Q241E NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA. 241 p.A240S(1)|p.F241L(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 GCAGAAGTTTGTTGTTTCCTT 0.453000 15 10 0 0 0.008291 0 0 GIMAP8 155038 broad.mit.edu 37 7 150163958 150163958 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:150163958G>A uc003whj.3 + 1 502 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 58 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GGTCCTGAGAGAAAGGAAGGT 0.478000 64 82 0 0 0.048971 0 0 PWP1 11137 broad.mit.edu 37 12 108090340 108090341 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:108090340_108090341CC>TT uc001tmo.1 + 5 679_680 c.592_593CC>TT c.(592-594)cct>TTt p.P198F PWP1_uc001tmn.1_Non-coding_Transcript NM_007062 NP_008993 Q13610 PWP1_HUMAN Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA. 198 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 GAATTTTGATCCTAGCCCAGAT 0.332000 31 19 0 0 0.004672 0 0 LRGUK 136332 broad.mit.edu 37 7 133943150 133943151 + Missense_Mutation DNP CC TT TT rs113393042 byFrequency TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:133943150_133943151CC>TT uc003vrm.1 + 18 2356_2357 c.2340_2341CC>TT c.(2338-2343)acccgg>acTTgg p.R781W NM_144648 NP_653249 Q96M69 LRGUK_HUMAN Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA. 781 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CCGAAGAGACCCGGAAAGGTAT 0.559000 22 20 0 0 0.004672 0 0 AHNAK 79026 broad.mit.edu 37 11 62293840 62293840 + Silent SNP A T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:62293840A>T uc001ntl.3 - 4 8349 c.8049T>A c.(8047-8049)atT>atA p.I2683I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 2683 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) CTGGTCCTTCAATGTTAACAT 0.483000 71 22 0 0 0.055883 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436813 72436813 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:72436813G>A uc002jkp.3 + 1 1544 c.1033G>A c.(1033-1035)Gtc>Atc p.V345I GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.V312I|GPRC5C_uc002jkt.3_Missense_Mutation_p.V300I|GPRC5C_uc002jku.3_5'Flank NM_022036 NP_071319 Q9NQ84 GPC5C_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA. 300 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 CATCCCCGAGGTCTCCCAGGT 0.627000 35 36 0 0 0.017118 0 0 CD300A 11314 broad.mit.edu 37 17 72469802 72469802 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:72469802C>T uc002jkv.3 + 1 489 c.168C>T c.(166-168)ttC>ttT p.F56F CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 56 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CACAGATTTTCCTATGTGACA 0.557000 64 14 0 0 0.016723 0 0 GALNT8 26290 broad.mit.edu 37 12 4848450 4848450 + Nonsense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:4848450C>T uc001qne.1 + 2 723 c.631C>T c.(631-633)Cga>Tga p.R211* NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 211 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GACGCCCTCTCGATTGTTGAA 0.428000 31 23 0 0 0.018920 0 0 OR2B11 127623 broad.mit.edu 37 1 247615087 247615087 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:247615087G>A uc010pyx.2 - 0 198 c.198C>T c.(196-198)ttC>ttT p.F66F NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGTGACTGAGGAAGATGTACA 0.572000 73 18 0 0 0.012319 0 0 GOLGB1 2804 broad.mit.edu 37 3 121417268 121417268 + Missense_Mutation SNP A T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:121417268A>T uc010hrc.3 - 12 2228 c.2102T>A c.(2101-2103)cTc>cAc p.L701H GOLGB1_uc003eei.4_Missense_Mutation_p.L696H|GOLGB1_uc003eej.4_Missense_Mutation_p.L662H|GOLGB1_uc021xcy.1_Missense_Mutation_p.L621H|GOLGB1_uc011bjm.1_Missense_Mutation_p.L582H|GOLGB1_uc010hrd.1_Missense_Mutation_p.L660H NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 696 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GTTTAGCTCGAGCTCCAAAAT 0.363000 16 10 0 0 0.010729 0 0 ACCS 84680 broad.mit.edu 37 11 44100295 44100295 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:44100295C>T uc009yks.1 + 8 938 c.794C>T c.(793-795)tCc>tTc p.S265F EXT2_uc010rfo.2_Intron|ACCS_uc010rfm.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.S265F NM_001127219 NP_115981 Q96QU6 1A1L1_HUMAN Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA. 265 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 GATGTATACTCCCCTGAAGAG 0.587000 11 10 0 0 0.013537 0 0 FIG4 9896 broad.mit.edu 37 6 110088051 110088051 + Missense_Mutation SNP A G G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:110088051A>G uc003ptt.2 + 14 1918 c.1703A>G c.(1702-1704)aAa>aGa p.K568R FIG4_uc011eau.1_Missense_Mutation_p.K291R NM_014845 NP_055660 Q92562 FIG4_HUMAN Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA. 568 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CAGCACTCCAAAGACATCATG 0.393000 53 14 0 0 0.020292 0 0 CDH10 1008 broad.mit.edu 37 5 24491860 24491860 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:24491860C>T uc003jgr.2 - 10 2207 c.1701G>A c.(1699-1701)gtG>gtA p.V567V CDH10_uc011cnu.2_Non-coding_Transcript NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA. 567 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGTCTGATATCACCACAGGCA 0.398000 HNSCC(23;0.051) 17 23 0 0 0.016522 0 0 STOML3 161003 broad.mit.edu 37 13 39542604 39542604 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr13:39542604C>T uc001uwx.3 - 5 722 c.584G>A c.(583-585)cGg>cAg p.R195Q STOML3_uc010tez.2_Missense_Mutation_p.R186Q NM_145286 NP_660329 Q8TAV4 STML3_HUMAN Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA. 195 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CACGGGAATCCGAACATCTTT 0.522000 39 28 0 0 0.037714 0 0 RHAG 6005 broad.mit.edu 37 6 49604381 49604381 + Missense_Mutation SNP C T T rs141969178 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:49604381C>T uc003ozk.4 - 0 207 c.145G>A c.(145-147)Gag>Aag p.E49K RHAG_uc010jzl.3_Missense_Mutation_p.E49K|RHAG_uc010jzm.3_Missense_Mutation_p.E49K NM_000324 NP_000315 Q02094 RHAG_HUMAN Homo sapiens Rh-associated glycoprotein (RHAG), mRNA. 49 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) GGATATAACTCAAAGAATATG 0.368000 53 38 0 0 0.033182 0 0 PLA1A 51365 broad.mit.edu 37 3 119334876 119334876 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:119334876C>T uc003ecu.3 + 5 748 c.682C>T c.(682-684)Ccc>Tcc p.P228S PLA1A_uc003ecv.3_Missense_Mutation_p.P212S|PLA1A_uc011bjc.2_Missense_Mutation_p.P55S|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 228 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TATTCGGATTCCCGTTGGACA 0.522000 10 4 0 0 0.014758 0 0 MYEOV2 150678 broad.mit.edu 37 2 241075674 241075674 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:241075674G>A uc002vyu.1 - 0 91 c.91C>T c.(91-93)Ccc>Tcc p.P31S MYEOV2_uc010zof.1_Missense_Mutation_p.P10S NM_138336 NP_612209 Q8WXC6 MYOV2_HUMAN Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA. 10 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCGCCCTCGGGGAACATCTCG 0.736000 8 4 0 0 0.009096 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479006 55479006 + Missense_Mutation SNP G C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:55479006G>C uc004dum.3 + 0 469 c.199G>C c.(199-201)Gaa>Caa p.E67Q NM_014061 NP_054780 Q9H213 MAGH1_HUMAN Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA. 67 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 CACCCCTGAAGAAGCCTCGAG 0.587000 31 3 0 0 0.004672 0 0 NDST4 64579 broad.mit.edu 37 4 115767040 115767040 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:115767040G>A uc003ibu.3 - 9 2733 c.2054C>T c.(2053-2055)cCc>cTc p.P685L NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 685 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTTGGCTTTGGGGACAAGAGA 0.438000 39 30 0 0 0.041601 0 0 NPSR1 387129 broad.mit.edu 37 7 34698043 34698043 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:34698043G>A uc003teh.1 + 0 147 c.19G>A c.(19-21)Gag>Aag p.E7K NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.E7K|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.E7K|NPSR1_uc003tei.1_Missense_Mutation_p.E7K|NPSR1_uc010kww.1_Missense_Mutation_p.E7K|NPSR1_uc011kar.1_Missense_Mutation_p.E7K NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 7 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CAACTTCACAGAGGGCAGCTT 0.582000 34 27 0 0 0.030593 0 0 GPR39 2863 broad.mit.edu 37 2 133175121 133175121 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:133175121C>T uc002ttl.3 + 0 975 c.506C>T c.(505-507)cCc>cTc p.P169L NM_001508 NP_001499 O43194 GPR39_HUMAN Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA. 169 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTGGCACTGCCCTTGCTGTTT 0.637000 20 14 0 0 0.016723 0 0 BRF1 2972 broad.mit.edu 37 14 105677571 105677571 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:105677571C>T uc001yqp.2 - 16 2247 c.1884G>A c.(1882-1884)ctG>ctA p.L628L BRF1_uc010tyo.1_Silent_p.L513L|BRF1_uc010typ.1_Silent_p.L535L|BRF1_uc001yqk.2_Silent_p.L154L|BRF1_uc001yql.2_Silent_p.L424L|BRF1_uc001yqo.2_Silent_p.L390L|BRF1_uc010axg.1_Silent_p.L601L|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR NM_001519 NP_663718 Q92994 TF3B_HUMAN Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA. 628 positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CGCTCTCCACCAGCACCGCCT 0.672000 40 42 0 0 0.033182 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118335 118335 + RNA SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrGL000205.1:118335G>A uc002kgk.4 + 0 c.1713G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GTGGCTCCAGGAGGACTTCTG 0.542000 20 6 0 0 0.021553 0 0 GRIK2 2898 broad.mit.edu 37 6 102483315 102483315 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:102483315C>T uc003pqp.4 + 13 2478 c.2185C>T c.(2185-2187)Ctc>Ttc p.L729F GRIK2_uc010kcw.3_Missense_Mutation_p.L729F|GRIK2_uc003pqo.4_Missense_Mutation_p.L729F|GRIK2_uc021zdk.1_Missense_Mutation_p.L542F|GRIK2_uc021zdl.1_Non-coding_Transcript NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 729 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CCAGCGAGTCCTCACCTCTGA 0.443000 93 31 0 0 0.045705 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659653 63659653 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:63659653G>A uc010lyq.1 + 3 568 c.436G>A c.(436-438)Gag>Aag p.E146K NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA. 146 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CCAGTACCTGGAGGTCATCCA 0.468000 16 22 0 0 0.014323 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147027949 147027949 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:147027949C>T uc010jgo.1 - 3 1074 c.926G>A c.(925-927)cGa>cAa p.R309Q JAKMIP2_uc003loq.1_Missense_Mutation_p.R309Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R267Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R309Q|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 309 Golgi apparatus p.R309*(1)|p.E308A(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTCATTTCGTTCATCTCC 0.303000 46 17 0 0 0.033300 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866242 131866242 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:131866242G>A uc003vra.4 - 17 3619 c.3390C>T c.(3388-3390)atC>atT p.I1130I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1130 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCTTGTTGAGGATGAGCAGGG 0.592000 87 51 0 0 0.048971 0 0 COL5A3 50509 broad.mit.edu 37 19 10100153 10100153 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:10100153C>T uc002mmq.1 - 24 2124 c.2038G>A c.(2038-2040)Ggc>Agc p.G680S NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 680 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCAGAGGGCCATCGGATCCT 0.547000 14 9 0 0 0.006214 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18766202 18766203 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:18766202_18766203GG>AA uc010exr.3 - 3 418_419 c.306_307CC>TT c.(304-309)tcccca>tcTTca p.P103S NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.P161S|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.P101S|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.P161S|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.P144S|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.P178S|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.P163S|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.P101S|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'UTR NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 161 Ser-rich. purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding TGCAGGCTTGGGGAGGTGGATG 0.703000 6 4 0 0 0.004672 0 0 LNX2 222484 broad.mit.edu 37 13 28130496 28130496 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr13:28130496G>A uc001url.4 - 6 1732 c.1423C>T c.(1423-1425)Cca>Tca p.P475S LNX2_uc001urm.1_Missense_Mutation_p.P475S NM_153371 NP_699202 Q8N448 LNX2_HUMAN Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA. 475 PDZ 3. 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) GATTCATGTGGTTCCTTCTTT 0.438000 13 10 0 0 0.006214 0 0 INPPL1 3636 broad.mit.edu 37 11 71939791 71939791 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:71939791C>T uc001osf.3 + 3 565 c.418C>T c.(418-420)Ccg>Tcg p.P140S INPPL1_uc001osg.3_5'UTR NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 140 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin 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 TGAGAAGCCCCCGCTGCCCCC 0.652000 8 19 0 0 0.055883 0 0 ARPP21 10777 broad.mit.edu 37 3 35758848 35758848 + Splice_Site SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:35758848C>T uc011axy.2 + 11 1105 c.893_splice c.e11+1 p.R298_splice ARPP21_uc003cga.3_Intron|ARPP21_uc003cgb.3_Splice_Site_p.R332_splice|ARPP21_uc003cgf.3_Splice_Site_p.R133_splice NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 332 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ACAGCTCTTTCGGTTGGTATG 0.303000 22 14 0 0 0.020292 0 0 SH3TC1 54436 broad.mit.edu 37 4 8228944 8228944 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:8228944C>T uc003gkv.4 + 11 1624 c.1523C>T c.(1522-1524)gCc>gTc p.A508V SH3TC1_uc003gkw.4_Missense_Mutation_p.A432V|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 508 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TTCCTGAACGCCCCTGGGTAC 0.647000 6 5 0 0 0.014758 0 0 RAD51D 5892 broad.mit.edu 37 17 33428002 33428002 + Missense_Mutation SNP C T T rs147669627 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:33428002C>T uc010ctj.2 - 5 599 c.412G>A c.(412-414)Gag>Aag p.E138K RFFL_uc002hiq.2_Intron|RFFL_uc002hir.2_Silent_p.Q319Q|RFFL_uc010wce.1_Silent_p.Q200Q|RFFL_uc010wcd.1_Silent_p.Q339Q|RFFL_uc002hit.2_Silent_p.Q200Q|RFFL_uc002hiu.2_Silent_p.Q142Q|RFFL_uc002his.2_Silent_p.Q207Q|RFFL_uc010ctk.2_Silent_p.Q200Q O75771 RA51D_HUMAN Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 4, mRNA. 0 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding p.Q319H(1)|p.Q207H(1)|p.Q339H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATGTGGCACTCTGCTCTGAGG 0.527000 Direct reversal of damage 39 47 0 0 0.048971 0 0 DMBT1 1755 broad.mit.edu 37 10 124399762 124399762 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:124399762C>T uc001lgk.1 + 51 6868 c.6762C>T c.(6760-6762)gaC>gaT p.D2254D DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc021qaf.1_Silent_p.D2254D|DMBT1_uc021qag.1_Silent_p.D2244D|DMBT1_uc021qah.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 2254 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAATTTTGACGTGAACATTT 0.463000 48 25 0 0 0.021523 0 0 SLC52A3 113278 broad.mit.edu 37 20 744419 744419 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr20:744419G>A uc002wed.4 - 2 1135 c.796C>T c.(796-798)Cgg>Tgg p.R266W SLC52A3_uc002wee.2_Missense_Mutation_p.R266W NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA. 266 sensory perception of sound integral to plasma membrane riboflavin transporter activity TCCCGCGGCCGGATGGAGTGG 0.647000 29 22 0 0 0.014323 0 0 NWD1 284434 broad.mit.edu 37 19 16908608 16908608 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:16908608G>A uc002neu.4 + 15 3792 c.3370G>A c.(3370-3372)Gat>Aat p.D1124N NWD1_uc002net.4_Missense_Mutation_p.D989N|NWD1_uc002nev.4_Missense_Mutation_p.D918N|NWD1_uc021uqg.1_Missense_Mutation_p.D989N NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1124 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATGGCCATGGATCTGGAACA 0.537000 81 88 0 0 0.048971 0 0 ATG4B 23192 broad.mit.edu 37 2 242598521 242598521 + Splice_Site SNP A T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:242598521A>T uc002wbv.3 + 7 562 c.459_splice c.e7-2 p.K153_splice ATG4B_uc002wbu.3_Splice_Site_p.K79_splice|ATG4B_uc002wbw.3_Splice_Site_p.K153_splice|ATG4B_uc010zox.2_Splice_Site_p.K139_splice|ATG4B_uc010zoy.2_Splice_Site_p.K79_splice|ATG4B_uc010fzp.3_Splice_Site_p.K153_splice|ATG4B_uc010zoz.2_Splice_Site_p.K79_splice NM_013325 NP_037457 Q9Y4P1 ATG4B_HUMAN Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA. 153 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) TACTCTCTGTAGGAAGCTTGC 0.478000 17 4 0 0 0.009096 0 0 FOLH1 2346 broad.mit.edu 37 11 49175820 49175820 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:49175820C>T uc001ngy.3 - 15 2109 c.1848G>A c.(1846-1848)atG>atA p.M616I FOLH1_uc001ngx.3_Missense_Mutation_p.M48I|FOLH1_uc009yly.3_Missense_Mutation_p.M601I|FOLH1_uc009ylz.3_Missense_Mutation_p.M601I|FOLH1_uc001ngz.3_Missense_Mutation_p.M616I|FOLH1_uc009yma.3_Missense_Mutation_p.M308I NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 616 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTGGATGTTTCATAGAAATAC 0.348000 29 22 0 0 0.016522 0 0 BBS10 79738 broad.mit.edu 37 12 76739666 76739666 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:76739666G>A uc001syd.1 - 1 2183 c.2099C>T c.(2098-2100)aCc>aTc p.T700I NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA. 700 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CATGTCAATGGTTAATATTTT 0.353000 Bardet-Biedl syndrome 19 19 0 0 0.038395 0 0 CR1 1378 broad.mit.edu 37 1 207803916 207803916 + Silent SNP A C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:207803916A>C uc001hfy.3 + 37 6197 c.6057A>C c.(6055-6057)ggA>ggC p.G2019G CR1_uc001hfx.3_Silent_p.G2469G|CR1_uc021pij.1_Silent_p.G2019G NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 2019 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ATTCTCAAGGAGGCAGCAGCG 0.343000 16 4 0 0 0.029380 0 0 KCNT2 343450 broad.mit.edu 37 1 196309582 196309582 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:196309582C>T uc001gtd.1 - 15 1732 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E508K|KCNT2_uc001gtf.1_Missense_Mutation_p.E558K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E558K|KCNT2_uc001gth.1_Missense_Mutation_p.E79K NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 558 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GAATTCTCTTCTTTGGTAATA 0.353000 31 8 0 0 0.047766 0 0 MGAM 8972 broad.mit.edu 37 7 141740561 141740561 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:141740561G>A uc003vwy.3 + 20 2467 c.2413G>A c.(2413-2415)Gaa>Aaa p.E805K NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 805 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGTCGAGATGGAACTTCCTGG 0.478000 23 10 0 0 0.006214 0 0 GBP6 163351 broad.mit.edu 37 1 89849796 89849796 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:89849796G>A uc001dnf.2 + 9 1887 c.1613G>A c.(1612-1614)aGa>aAa p.R538K GBP6_uc010ost.1_Missense_Mutation_p.R408K NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 538 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) CAGATGGAGAGAGAACACCTA 0.502000 1 11 0 0 0.008291 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559978 140559978 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:140559978C>T uc011dai.2 + 0 2608 c.2363C>T c.(2362-2364)tCt>tTt p.S788F PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 788 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) GAACAAAACTCTAACTTTAGG 0.368000 37 14 0 0 0.020292 0 0 C15orf55 256646 broad.mit.edu 37 15 34649344 34649344 + Silent SNP C T T rs7163178 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:34649344C>T uc010ucc.2 + 7 3517 c.3135C>T c.(3133-3135)ctC>ctT p.L1045L C15orf55_uc010ucd.2_Silent_p.L1035L|C15orf55_uc001zif.3_Silent_p.L1017L NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 1017 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) ATGAGGAACTCTCCAACTTTG 0.502000 T """BRD3, BRD4""" lethal midline carcinoma 26 10 0 0 0.008291 0 0 HTT 3064 broad.mit.edu 37 4 3210517 3210518 + Missense_Mutation DNP CC TT TT TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:3210517_3210518CC>TT uc021xkv.1 + 45 6315_6316 c.6170_6171CC>TT c.(6169-6171)tcc>tTT p.S2057F NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2057 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGGCTCTATTCCCTGCTGGACA 0.431000 11 9 0 0 0.004672 0 0 PARD3 56288 broad.mit.edu 37 10 34663808 34663808 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:34663808C>T uc010qej.2 - 10 1992 c.1662G>A c.(1660-1662)agG>agA p.R554R PARD3_uc010qep.2_Silent_p.R510R|PARD3_uc010qeq.2_Silent_p.R510R|PARD3_uc010qek.2_Silent_p.R554R|PARD3_uc010qel.2_Silent_p.R554R|PARD3_uc010qem.2_Silent_p.R554R|PARD3_uc010qen.2_Silent_p.R554R|PARD3_uc010qeo.2_Silent_p.R554R|PARD3_uc001ixo.2_Silent_p.R284R|PARD3_uc001ixr.2_Silent_p.R554R|PARD3_uc001ixq.2_Silent_p.R554R|PARD3_uc001ixp.2_Silent_p.R554R|PARD3_uc001ixt.1_Silent_p.R375R|PARD3_uc001ixu.2_Silent_p.R510R|PARD3_uc001ixs.1_Silent_p.R207R NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 554 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ACACCAGTTCCCTTGGGTGGA 0.463000 78 37 0 0 0.023175 0 0 LLGL2 3993 broad.mit.edu 37 17 73569700 73569700 + Missense_Mutation SNP C G G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:73569700C>G uc002joh.3 + 20 3018 c.2864C>G c.(2863-2865)cCg>cGg p.P955R LLGL2_uc002joi.3_Missense_Mutation_p.P955R|LLGL2_uc010dgg.2_Missense_Mutation_p.P955R|LLGL2_uc002joj.3_Missense_Mutation_p.P944R|LLGL2_uc010wsd.2_Missense_Mutation_p.P582R NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCC 0.667000 18 5 0 0 0.038147 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962141 73962141 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:73962141C>T uc004eby.3 - 2 2868 c.2251G>A c.(2251-2253)Gaa>Aaa p.E751K NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 751 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GATTGGTTTTCCAAGAGAGGG 0.378000 5 45 0 0 0.036044 0 0 MKI67 4288 broad.mit.edu 37 10 129907335 129907335 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:129907335C>T uc001lke.3 - 12 2964 c.2769G>A c.(2767-2769)aaG>aaA p.K923K MKI67_uc001lkf.3_Silent_p.K563K|MKI67_uc009yav.1_Silent_p.K498K|MKI67_uc009yaw.1_Silent_p.K73K NM_002417 NP_002408 P46013 KI67_HUMAN Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA. 923 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) TTTCTATTTCCTTCATCTCTC 0.348000 31 24 0 0 0.018920 0 0 ANK3 288 broad.mit.edu 37 10 61831219 61831219 + Silent SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:61831219T>C uc001jky.3 - 36 9758 c.9420A>G c.(9418-9420)caA>caG p.Q3140Q ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3140 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 GAGAAGGAGGTTGCTTTTGCT 0.428000 39 25 0 0 0.018920 0 0 OR4K5 79317 broad.mit.edu 37 14 20389642 20389642 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:20389642G>A uc010tkw.2 + 0 877 c.877G>A c.(877-879)Gat>Aat p.D293N NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R292T(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGGAATAGGGATATGAAGGC 0.398000 103 42 0 0 0.036044 0 0 RPAP1 26015 broad.mit.edu 37 15 41819403 41819403 + Missense_Mutation SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:41819403T>C uc001zod.3 - 12 1832 c.1708A>G c.(1708-1710)Atc>Gtc p.I570V NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 570 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCCAGGCGGATGAGCACAGCC 0.617000 13 17 0 0 0.043863 0 0 ACAN 176 broad.mit.edu 37 15 89401973 89401973 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:89401973G>A uc010upo.1 + 11 6531 c.6157G>A c.(6157-6159)Gaa>Aaa p.E2053K ACAN_uc010upp.1_Missense_Mutation_p.E2053K|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 2053 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TATTTCTCAGGAACTAGGCCA 0.517000 14 16 0 0 0.028581 0 0 POTEC 388468 broad.mit.edu 37 18 14543092 14543092 + Silent SNP G A A rs45502401 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr18:14543092G>A uc010dln.3 - 0 508 c.54C>T c.(52-54)ttC>ttT p.F18F POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 18 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TCCTGAGATCGAATGGCTTCT 0.572000 31 5 0 0 0.038147 0 0 CYP46A1 10858 broad.mit.edu 37 14 100157478 100157478 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:100157478C>T uc001ygo.3 + 1 180 c.180C>T c.(178-180)ctC>ctT p.L60L CYP46A1_uc001ygn.1_Missense_Mutation_p.S8F NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. 60 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GCCGTGTGCTCCAAGATGTGT 0.502000 51 28 0 0 0.045705 0 0 PTCD3 55037 broad.mit.edu 37 2 86344203 86344203 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:86344203C>T uc002sqw.2 + 5 401 c.335C>T c.(334-336)tCc>tTc p.S112F PTCD3_uc010ytc.1_Non-coding_Transcript NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA. 112 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 GCAAAGAAATCCGGGGAGAAT 0.328000 12 4 0 0 0.009096 0 0 GRIK1 2897 broad.mit.edu 37 21 30927444 30927444 + Missense_Mutation SNP G T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:30927444G>T uc002yno.1 - 15 3000 c.2536C>A c.(2536-2538)Ctg>Atg p.L846M GRIK1_uc002ynn.3_Missense_Mutation_p.L831M|GRIK1_uc011acs.2_Missense_Mutation_p.L846M|GRIK1_uc011act.2_Missense_Mutation_p.L707M NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 846 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GAAAGGACCAGTCCGGCAGCC 0.463000 71 10 7.48243e-07 7.83873e-07 0.006214 1 0 DMXL1 1657 broad.mit.edu 37 5 118503322 118503322 + Missense_Mutation SNP A G G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:118503322A>G uc010jcl.1 + 22 5342 c.5161A>G c.(5161-5163)Att>Gtt p.I1721V DMXL1_uc003ksd.2_Missense_Mutation_p.I1721V|DMXL1_uc021ycw.1_Missense_Mutation_p.I1548V NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 1721 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ATTGAATGACATTCAGTTGGC 0.294000 8 8 0 0 0.038147 0 0 SHF 90525 broad.mit.edu 37 15 45464403 45464403 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:45464403C>T uc001zuy.3 - 5 1402 c.907G>A c.(907-909)Gag>Aag p.E303K SHF_uc010uen.2_Missense_Mutation_p.E119K|SHF_uc010ueo.2_Missense_Mutation_p.E119K|SHF_uc010ues.1_Missense_Mutation_p.E166K|SHF_uc010uet.1_Missense_Mutation_p.E119K|SHF_uc010ueu.2_Missense_Mutation_p.E166K NM_138356 NP_612365 B3KTY1 B3KTY1_HUMAN Homo sapiens Src homology 2 domain containing F (SHF), mRNA. 303 endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) CTGCTGGGCTCCATGCTTAGG 0.642000 40 23 0 0 0.021523 0 0 NEK1 4750 broad.mit.edu 37 4 170327855 170327855 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:170327855C>T uc003isd.2 - 31 3844 c.3266G>A c.(3265-3267)aGa>aAa p.R1089K NEK1_uc003ise.2_Missense_Mutation_p.R1045K|NEK1_uc003isb.2_Missense_Mutation_p.R1061K|NEK1_uc003isc.2_Missense_Mutation_p.R1017K|NEK1_uc003isf.2_Missense_Mutation_p.R992K NM_001199397 NP_001186326 Q96PY6 NEK1_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA. 1061 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CATAAGGGTTCTGAACAGCTT 0.318000 29 23 0 0 0.034045 0 0 NBPF10 100132406 broad.mit.edu 37 1 144619399 144619399 + Silent SNP G A A rs4067645 by1000genomes TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:144619399G>A uc009wig.1 + 5 734 c.540G>A c.(538-540)gtG>gtA p.V180V NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 182 p.A179D(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATGAGAAAGTGCAGAAATCAT 0.413000 237 6 0 0 0.029380 0 0 ANKRD6 22881 broad.mit.edu 37 6 90333234 90333234 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:90333234G>A uc003pni.4 + 10 1344 c.1003G>A c.(1003-1005)Gat>Aat p.D335N ANKRD6_uc003pne.4_Missense_Mutation_p.D335N|ANKRD6_uc003pnf.4_Missense_Mutation_p.D300N|ANKRD6_uc011dzy.2_Missense_Mutation_p.D335N|ANKRD6_uc010kcd.3_Missense_Mutation_p.D276N|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_5'UTR NM_001242809 NP_001229738 Q9Y2G4 ANKR6_HUMAN Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA. 335 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CAGAGCAAAGGATGACAGGAG 0.597000 6 7 0 0 0.038147 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821661 129821661 + RNA SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:129821661T>C uc003ene.2 - 1 c.255A>G FAM86HP_uc011ble.1_Non-coding_Transcript Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA. GTAAAGGCCATGTAGACCTCA 0.667000 46 8 0 0 0.013537 0 0 PSG4 5672 broad.mit.edu 37 19 43414732 43414732 + Splice_Site SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:43414732G>A uc002ovj.1 - 3 805 c.706_splice c.e3+1 p.P236_splice PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Splice_Site_p.P236_splice NM_002782 NP_002773 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA. 237 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGATACTCACGGAGGAGATTC 0.527000 84 103 0 0 0.048971 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118065 118065 + RNA SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrGL000205.1:118065G>A uc002kgk.4 + 0 c.1443G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AGTTTTGCTCGGGGTCTGTTG 0.572000 38 7 0 0 0.047766 0 0 ZNF709 163051 broad.mit.edu 37 19 12638475 12638475 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:12638475G>A uc002mty.3 - 3 657 c.447C>T c.(445-447)gcC>gcT p.A149A ZNF709_uc002mtx.4_Intron NM_144976 NP_659413 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 564 (ZNF564), mRNA. 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 AAGAACTGAAGGCTTTCCCAC 0.433000 22 18 0 0 0.038395 0 0 ZNF823 55552 broad.mit.edu 37 19 11832550 11832550 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:11832550C>T uc002msm.2 - 3 1925 c.1799G>A c.(1798-1800)aGa>aAa p.R600K ZNF823_uc010xmd.1_Missense_Mutation_p.R418K|ZNF823_uc010dyi.1_Missense_Mutation_p.R556K NM_001080493 NP_001073962 P16415 ZN823_HUMAN Homo sapiens zinc finger protein 823 (ZNF823), mRNA. 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CCTTTTATGTCTATGCAAGGA 0.393000 HNSCC(68;0.2) 30 7 0 0 0.047766 0 0 FBN2 2201 broad.mit.edu 37 5 127700391 127700391 + Missense_Mutation SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:127700391T>C uc003kuu.3 - 17 2769 c.2330A>G c.(2329-2331)gAt>gGt p.D777G FBN2_uc003kuv.2_Missense_Mutation_p.D744G NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 777 EGF-like 11; 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) GGCACATATATCAGGATCCAA 0.358000 22 9 0 0 0.047766 0 0 CHRNG 1146 broad.mit.edu 37 2 233409127 233409127 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:233409127G>A uc002vsx.1 + 9 1107 c.1086G>A c.(1084-1086)ctG>ctA p.L362L CHRNG_uc010fye.1_Silent_p.L310L NM_005199 NP_005190 P07510 ACHG_HUMAN Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA. 362 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) TTCGCCCGCTGGCCCCGGCAG 0.652000 81 32 0 0 0.054565 0 0 FAM86A 196483 broad.mit.edu 37 16 5135684 5135684 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr16:5135684C>T uc002cyo.2 - 7 991 c.942G>A c.(940-942)ctG>ctA p.L314L ALG1_uc002cyj.3_3'UTR|ALG1_uc002cym.3_3'UTR|ALG1_uc010bue.3_3'UTR|FAM86A_uc002cyp.2_Silent_p.L280L NM_201400 NP_958802 Q96G04 FA86A_HUMAN Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA. 314 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 CGTAGGGAAACAGTTTCTGCT 0.527000 94 4 0 0 0.009096 0 0 DSG3 1830 broad.mit.edu 37 18 29054145 29054145 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr18:29054145G>A uc002kws.3 + 14 2272 c.2163G>A c.(2161-2163)atG>atA p.M721I DSG3_uc002kwt.3_Missense_Mutation_p.M3I NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 721 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAATGGAAATGACCACTAAGC 0.493000 4 20 0 0 0.055883 0 0 PHLDB2 90102 broad.mit.edu 37 3 111659439 111659439 + Missense_Mutation SNP G C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:111659439G>C uc010hqa.3 + 7 2755 c.2344G>C c.(2344-2346)Gag>Cag p.E782Q PHLDB2_uc003dyc.3_Missense_Mutation_p.E766Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.E739Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.E782Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.E739Q|PHLDB2_uc003dyi.3_Missense_Mutation_p.E368Q NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 782 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GGCTCAGAGAGAGCAAGATCA 0.353000 7 6 0 0 0.029380 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349514 103349514 + Nonsense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:103349514G>A uc022cbz.1 - 0 427 c.427C>T c.(427-429)Cag>Tag p.Q143* SLC25A53_uc004elu.3_Nonsense_Mutation_p.Q143* NM_001012755 NP_001012773 Q5H9E4 MCAR6_HUMAN Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA. 143 transport integral to membrane|mitochondrial inner membrane CGACCATCCTGGAGCACATTT 0.597000 10 105 0 0 0.048971 0 0 TBX15 6913 broad.mit.edu 37 1 119469210 119469210 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:119469210C>T uc001ehl.1 - 2 441 c.126G>A c.(124-126)gtG>gtA p.V42V NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 148 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CAGTGATTTTCACTCTCATGG 0.423000 22 7 0 0 0.006214 0 0 LOC390660 390660 broad.mit.edu 37 15 82620400 82620400 + RNA SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:82620400T>C uc021ssl.1 + 18 c.3880T>C LOC390660_uc010bls.1_Non-coding_Transcript Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA. GACCCAAGGGTCAGCCTGAGT 0.672000 15 3 0 0 0.014758 0 0 LPPR2 64748 broad.mit.edu 37 19 11470537 11470537 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:11470537C>T uc002mrf.2 + 4 597 c.221C>T c.(220-222)cCa>cTa p.P74L LPPR2_uc002mre.2_Missense_Mutation_p.P99L|LPPR2_uc010dxy.2_5'UTR|Prion_pknot_uc021uph.1_5'Flank NM_001170635 NP_001164106 Q96GM1 LPPR2_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA. 99 integral to membrane phosphatidate phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 6 TTCCCTGCACCACCTTCAGCC 0.647000 21 11 0 0 0.010729 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101795412 101795412 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:101795412G>A uc003knn.3 - 4 1141 c.969C>T c.(967-969)gtC>gtT p.V323V SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Silent_p.V323V|SLCO6A1_uc003knq.3_Silent_p.V261V NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 323 integral to membrane|plasma membrane transporter activity p.A322T(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ACCATGCAACGACAGCGGCAA 0.338000 57 21 0 0 0.012319 0 0 RAD17 5884 broad.mit.edu 37 5 68667346 68667346 + Missense_Mutation SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:68667346T>C uc003jwo.3 + 0 66 c.4T>C c.(4-6)Tca>Cca p.S2P RAD17_uc003jwg.3_Intron|RAD17_uc003jwi.3_5'UTR|RAD17_uc003jwh.3_Intron|RAD17_uc003jwj.3_Intron|RAD17_uc003jwk.3_Intron|RAD17_uc003jwl.3_Intron|RAD17_uc003jwm.3_Intron|RAD17_uc003jwn.3_Intron|TAF9_uc003jwa.3_5'Flank|TAF9_uc003jwb.3_5'Flank|TAF9_uc003jwe.1_5'Flank|TAF9_uc003jwf.1_5'Flank NM_133339 NP_579917 O75943 RAD17_HUMAN Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA. 2 DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) GTTTATAATGTCAAAAACTTT 0.353000 Other conserved DNA damage response genes 18 20 0 0 0.016522 0 0 CPD 1362 broad.mit.edu 37 17 28789002 28789002 + Silent SNP T G G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:28789002T>G uc002hfb.2 + 18 3795 c.3738T>G c.(3736-3738)ggT>ggG p.G1246G CPD_uc010wbo.2_Silent_p.G999G|CPD_uc010wbp.2_Non-coding_Transcript NM_001304 NP_001295 O75976 CBPD_HUMAN Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. 1246 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding p.G1246C(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AAGAGGGAGGTTATTTCCATG 0.393000 10 20 0 0 0.043863 0 0 KRT3 3850 broad.mit.edu 37 12 53189266 53189266 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:53189266G>A uc001say.3 - 0 627 c.561C>T c.(559-561)atC>atT p.I187I NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 187 Head. I -> T (in Ref. 1; CAA28991). epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TCTGGGGGTCGATCTCCACAT 0.542000 26 22 0 0 0.014323 0 0 TAP2 6891 broad.mit.edu 37 6 32781551 32781551 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:32781551C>T uc011dqf.1 - 14 2646 c.2524G>A c.(2524-2526)Ggg>Agg p.G842R TAP2_uc003oca.3_Missense_Mutation_p.G235R NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding AAGATTAGCCCAAGTAGGAAG 0.478000 3 3 0 0 0.004672 0 0 SCAF4 57466 broad.mit.edu 37 21 33064136 33064136 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:33064136G>A uc002ypd.2 - 13 2148 c.1722C>T c.(1720-1722)tcC>tcT p.S574S SCAF4_uc002ype.2_Silent_p.S574S|SCAF4_uc010glu.2_Silent_p.S559S|SCAF4_uc002ypf.1_Silent_p.S248S NM_020706 NP_065757 O95104 SFR15_HUMAN Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA. 574 RRM. nucleus RNA binding|nucleotide binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTACCTTTATGGATTTCTGGT 0.373000 38 14 0 0 0.024245 0 0 DSCAM 1826 broad.mit.edu 37 21 42080524 42080524 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:42080524G>A uc002yyq.1 - 1 669 c.217C>T c.(217-219)Cgc>Tgc p.R73C DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 73 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.R73L(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACGTGGCGGATCCCGGGG 0.552000 60 15 0 0 0.020292 0 0 RLTPR 146206 broad.mit.edu 37 16 67685655 67685655 + Nonsense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr16:67685655G>A uc002etn.3 + 24 2615 c.2495G>A c.(2494-2496)tGg>tAg p.W832* RLTPR_uc010cel.1_Nonsense_Mutation_p.W825*|RLTPR_uc010vjr.2_Nonsense_Mutation_p.W796*|RLTPR_uc010vjs.1_5'Flank NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 832 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGATCCAGCTGGAGGGAGCAG 0.612000 2 7 0 0 0.029380 0 0 TET1 80312 broad.mit.edu 37 10 70406332 70406332 + Silent SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:70406332T>C uc001jok.4 + 3 4351 c.3846T>C c.(3844-3846)taT>taC p.Y1282Y NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1282 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ATAAAGCTTATAATTCTCAGG 0.458000 39 6 0 0 0.029380 0 0 GPR123 84435 broad.mit.edu 37 10 134909255 134909255 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:134909255G>A uc001llw.3 + 10 2134 c.2134G>A c.(2134-2136)Ggc>Agc p.G712S GPR123_uc001llx.4_Intron Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GGAGCTCTCGGGCCCGCTGGC 0.657000 11 4 0 0 0.009096 0 0 DNAH1 25981 broad.mit.edu 37 3 52422547 52422547 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:52422547C>T uc011bef.2 + 57 9546 c.9285C>T c.(9283-9285)taC>taT p.Y3095Y DNAH1_uc003ddv.3_5'UTR NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 3095 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGCTAAGTACCGGGAATGCA 0.607000 3 6 0 0 0.021553 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G A A rs112083427 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:170871052G>A uc003qxu.3 + 2 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q NM_003194 NP_001165556 P20226 TBP_HUMAN Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA. 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(8)|p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 28 5 0 0 0.014758 0 0 BC073927 0 broad.mit.edu 37 11 71513938 71513938 + RNA SNP T A A rs139766133 by1000genomes TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:71513938T>A uc001oqx.1 - 2 c.662A>T Homo sapiens cDNA clone IMAGE:5297769. GGCAAACAGCTCCTGAACATG 0.582000 19 3 0 0 0.004672 0 0 OR10R2 343406 broad.mit.edu 37 1 158450467 158450467 + Missense_Mutation SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:158450467T>C uc010pik.2 + 0 800 c.800T>C c.(799-801)gTt>gCt p.V267A AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CACCTCAGTGTTGTTATTGTT 0.478000 20 25 0 0 0.018920 0 0 UBE3C 9690 broad.mit.edu 37 7 157060408 157060408 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:157060408C>T uc010lqs.3 + 22 3523 c.3211C>T c.(3211-3213)Ctc>Ttc p.L1071F UBE3C_uc003wni.4_Missense_Mutation_p.L434F NM_014671 NP_055486 Q15386 UBE3C_HUMAN Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA. 1071 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AAGTAAACTTCTCTATGCGAT 0.567000 65 79 0 0 0.048971 0 0 USP40 55230 broad.mit.edu 37 2 234434202 234434202 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:234434202C>T uc010zmr.2 - 12 1765 c.1765G>A c.(1765-1767)Gaa>Aaa p.E589K USP40_uc010zmt.1_Missense_Mutation_p.E233K NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 577 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TCCCAAAATTCTAACAGCTGA 0.368000 18 28 0 0 0.034045 0 0 GPR112 139378 broad.mit.edu 37 X 135494509 135494509 + Silent SNP A C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:135494509A>C uc004ezu.1 + 23 9312 c.9021A>C c.(9019-9021)cgA>cgC p.R3007R GPR112_uc010nsb.1_Silent_p.R2802R NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 3007 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGTGGTTGCGATTGGATAACT 0.403000 2 36 0 0 0.017118 0 0 STX17 55014 broad.mit.edu 37 9 102677597 102677597 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr9:102677597C>T uc004bal.4 + 1 212 c.76C>T c.(76-78)Cca>Tca p.P26S STX17_uc004bak.3_Missense_Mutation_p.P26S|STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript NM_017919 NP_060389 P56962 STX17_HUMAN Homo sapiens syntaxin 17 (STX17), mRNA. 26 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GATAGTAATCCCAACAGACCT 0.343000 5 20 0 0 0.043863 0 0 SDSL 113675 broad.mit.edu 37 12 113873225 113873225 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:113873225C>T uc001tvi.3 + 6 742 c.535C>T c.(535-537)Ctg>Ttg p.L179L SDSL_uc009zwh.3_Silent_p.L179L NM_138432 NP_612441 Q96GA7 SDSL_HUMAN Homo sapiens serine dehydratase-like (SDSL), mRNA. 179 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) TGGGGGTCTCCTGGCCGGGGT 0.662000 9 12 0 0 0.010729 0 0 PRKG1 5592 broad.mit.edu 37 10 54053573 54053573 + Silent SNP C A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:54053573C>A uc001jjm.3 + 17 2157 c.1929C>A c.(1927-1929)ccC>ccA p.P643P PRKG1_uc001jjo.3_Silent_p.P658P|PRKG1_uc009xow.2_Silent_p.P361P|LOC100506939_uc021pqu.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA. 643 AGC-kinase C-terminal. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TTGCATCACCCACAGACACAA 0.368000 25 11 9.31168e-06 9.70375e-06 0.016723 1 0 DNAH7 56171 broad.mit.edu 37 2 196729224 196729224 + Silent SNP C T T rs150035002 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:196729224C>T uc002utj.4 - 40 7256 c.7155G>A c.(7153-7155)agG>agA p.R2385R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2385 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R2385R(2) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCGCACATTTCCTTAAGATCA 0.388000 27 30 0 0 0.037714 0 0 TRANK1 9881 broad.mit.edu 37 3 36874965 36874965 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:36874965C>T uc003cgj.3 - 20 6225 c.5977G>A c.(5977-5979)Ggg>Agg p.G1993R NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1993 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGGATTACCCCTTGCAGGAAG 0.507000 16 3 0 0 0.004672 0 0 MYO3B 140469 broad.mit.edu 37 2 171055894 171055894 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:171055894C>T uc002ufy.3 + 1 322 c.179C>T c.(178-180)cCa>cTa p.P60L MYO3B_uc002ufv.3_Missense_Mutation_p.P47L|MYO3B_uc010fqb.1_Missense_Mutation_p.P60L|MYO3B_uc002ufz.3_Missense_Mutation_p.P60L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.P47L NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 60 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin 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 ATTCTGGATCCAGTCAGTGTA 0.368000 4 7 0 0 0.029380 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50660946 50660946 + Silent SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr22:50660946G>A uc003bkb.1 - 13 2858 c.2346C>T c.(2344-2346)atC>atT p.I782I TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Silent_p.I774I|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR NM_020461 NP_065194 Q96RT7 GCP6_HUMAN Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA. 782 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGTGCCTCTGGATTCTCCACA 0.562000 23 13 0 0 0.013537 0 0 SVOP 55530 broad.mit.edu 37 12 109306352 109306352 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:109306352C>T uc010sxh.1 - 15 1616 c.1444G>A c.(1444-1446)Ggt>Agt p.G482S NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA. 536 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 ACACCTGCACCGTGCATTCCT 0.627000 55 83 0 0 0.048971 0 0 PCLO 27445 broad.mit.edu 37 7 82784468 82784468 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:82784468C>T uc003uhx.2 - 1 1778 c.1489G>A c.(1489-1491)Gca>Aca p.A497T PCLO_uc003uhv.2_Missense_Mutation_p.A497T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 443 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(3) 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 GGGGGCTTTGCTGAGCCAGGC 0.612000 179 5 0 0 0.021553 0 0 OR9K2 441639 broad.mit.edu 37 12 55524316 55524316 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:55524316C>T uc010spe.2 + 0 764 c.764C>T c.(763-765)tCt>tTt p.S255F NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 AAGATACATTCTACTGAGGGA 0.383000 47 8 0 0 0.038147 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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 p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) 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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 38 33 0 0 0.054565 0 0 TMEM230 29058 broad.mit.edu 37 20 5086941 5086941 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr20:5086941G>A uc002wlk.3 - 3 363 c.304C>T c.(304-306)Cct>Tct p.P102S TMEM230_uc010gbi.3_Missense_Mutation_p.P39S|TMEM230_uc002wll.3_Missense_Mutation_p.P39S|TMEM230_uc002wlm.3_Missense_Mutation_p.P39S|TMEM230_uc002wln.3_Missense_Mutation_p.P39S NM_001009923 NP_054864 Q96A57 CT030_HUMAN Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA. 39 integral to membrane GGGATCTTAGGAGGGGTTTTC 0.388000 15 18 0 0 0.049695 0 0 NLN 57486 broad.mit.edu 37 5 65058797 65058797 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:65058797C>T uc003juf.3 + 2 490 c.312C>T c.(310-312)acC>acT p.T104T NLN_uc003jue.3_Silent_p.T104T NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA. 104 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TGGAAAGGACCATGCTAGACT 0.413000 35 16 0 0 0.028581 0 0 LIG1 3978 broad.mit.edu 37 19 48643347 48643347 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:48643347G>A uc002pia.1 - 11 1088 c.968C>T c.(967-969)tCg>tTg p.S323L LIG1_uc010xze.1_Missense_Mutation_p.S16L|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.S255L|LIG1_uc010xzg.1_Missense_Mutation_p.S292L|LIG1_uc010xzh.1_Non-coding_Transcript NM_000234 NP_000225 P18858 DNLI1_HUMAN Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA. 323 DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GTCTGGAGGCGACAGGGCCAC 0.632000 Nucleotide excision repair (NER) 35 10 0 0 0.008291 0 0 ST18 9705 broad.mit.edu 37 8 53084721 53084721 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:53084721G>A uc003xqz.2 - 4 856 c.700C>T c.(700-702)Cct>Tct p.P234S ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.P199S|ST18_uc011lds.1_Missense_Mutation_p.P139S|ST18_uc003xra.2_Missense_Mutation_p.P234S|ST18_uc003xrb.2_Missense_Mutation_p.P234S NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 234 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTATTTCAGGAACTTCCAAT 0.418000 35 22 0 0 0.012319 0 0 MSH5 4439 broad.mit.edu 37 6 31715210 31715210 + Splice_Site SNP G T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:31715210G>T uc003nwu.2 + 10 940 c.812_splice c.e10+1 p.R271_splice MSH5_uc003nwx.2_Splice_Site_p.R288_splice|MSH5_uc003nwv.2_Splice_Site_p.R271_splice|MSH5_uc003nww.2_Splice_Site_p.R271_splice|MSH5_uc011dof.1_Splice_Site NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 271 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding p.?(1) breast(1)|ovary(2)|skin(2) 5 AGCTGCTCAGGTGAGTGGGTC 0.473000 Direct reversal of damage;Mismatch excision repair (MMR) 241 133 2.92346e-95 3.16309e-95 0.048971 1 0 MIS18BP1 55320 broad.mit.edu 37 14 45687484 45687484 + Splice_Site SNP C A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:45687484C>A uc001wwf.3 - 12 3301 c.2842_splice c.e12+1 p.G948_splice NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA. 948 CenH3-containing nucleosome assembly at centromere|cell division|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 ACGAAGGTTACCATTTTGGCC 0.353000 65 38 1.32136e-16 1.4066e-16 0.033182 1 0 KIAA2018 205717 broad.mit.edu 37 3 113373885 113373885 + Missense_Mutation SNP T C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:113373885T>C uc003eam.3 - 6 7055 c.6644A>G c.(6643-6645)aAt>aGt p.N2215S KIAA2018_uc003eal.3_Missense_Mutation_p.N2159S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 2215 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGCAGAGGAATTTGCTATTGT 0.408000 30 7 0 0 0.038147 0 0 SHANK2 22941 broad.mit.edu 37 11 70319502 70319502 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:70319502C>T uc001oqc.3 - 21 4936 c.4824G>A c.(4822-4824)acG>acA p.T1608T SHANK2_uc010rqn.2_Silent_p.T1084T|SHANK2_uc001opz.3_Silent_p.T1079T|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Silent_p.T10T|SHANK2_uc021qmr.1_Non-coding_Transcript NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1295 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGGTGACCGTCGTGCTCCGTG 0.602000 18 17 0 0 0.038395 0 0 EFCAB11 90141 broad.mit.edu 37 14 90263603 90263603 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:90263603C>T uc001xxt.3 - 5 561 c.476G>A c.(475-477)gGa>gAa p.G159E EFCAB11_uc001xxs.3_Missense_Mutation_p.G135E NM_145231 NP_660274 Q9BUY7 EFC11_HUMAN Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA. 159 EF-hand 3. calcium ion binding large_intestine(1)|lung(1) 2 TTCCTTCTGTCCATAGTTCAG 0.388000 38 8 0 0 0.038147 0 0 DDB1 1642 broad.mit.edu 37 11 61090509 61090509 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:61090509G>A uc001nrc.4 - 7 1205 c.979C>T c.(979-981)Cgc>Tgc p.R327C DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R327C|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.R327C|DDB1_uc009ynl.1_Missense_Mutation_p.R214C NM_001923 NP_001914 Q16531 DDB1_HUMAN Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA. 327 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TCACCCAGGCGAGACCCGACA 0.438000 Nucleotide excision repair (NER) 10 16 0 0 0.033300 0 0 SIM1 6492 broad.mit.edu 37 6 100897319 100897319 + Missense_Mutation SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:100897319C>T uc003pqj.4 - 4 930 c.463G>A c.(463-465)Gag>Aag p.E155K SIM1_uc021zdg.1_Missense_Mutation_p.E155K|SIM1_uc010kcu.3_Missense_Mutation_p.E155K NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 155 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) CGCTCGATCTCATACTCTGGG 0.592000 16 15 0 0 0.028581 0 0 INSL4 3641 broad.mit.edu 37 9 5231701 5231701 + Missense_Mutation SNP G A A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr9:5231701G>A uc003ziy.3 + 0 283 c.178G>A c.(178-180)Gaa>Aaa p.E60K NM_002195 NP_002186 Q14641 INSL4_HUMAN Homo sapiens insulin-like 4 (placenta) (INSL4), mRNA. 60 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding endometrium(2)|lung(2)|skin(1)|urinary_tract(1) 6 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GTGGCTGCTGGAATCTGGACG 0.522000 3 9 0 0 0.008291 0 0 RAB2B 84932 broad.mit.edu 37 14 21931881 21931882 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:21931881_21931882GG>AA uc010tlt.2 - 5 508_509 c.407_408CC>TT c.(406-408)gcc>gTT p.A136V RAB2B_uc010tls.2_Missense_Mutation_p.A90V|RAB2B_uc010ain.3_Missense_Mutation_p.A27V|RAB2B_uc001wax.3_Missense_Mutation_p.A71V NM_032846 NP_001156852 Q8WUD1 RAB2B_HUMAN Homo sapiens RAB2B, member RAS oncogene family (RAB2B), transcript variant 1, mRNA. 136 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) CCCTAGCAAAGGCCTCTCCTTC 0.411000 51 22 0 0 0.004672 0 0 FAM86FP 653113 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:8386973C>T uc010sgk.2 - 3 c.483G>A Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA. AGCCAGCCTCCGCAGGACCCC 0.592000 42 4 0 0 0.009096 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95472169 95472169 + RNA SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:95472169C>T uc010fhp.3 - 15 c.2548G>A Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TCTGCATTTCCAAATACATTT 0.264000 27 10 0 0 0.006214 0 0 LAMA2 3908 broad.mit.edu 37 6 129634041 129634041 + Silent SNP C T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:129634041C>T uc021zfb.1 + 22 3315 c.3210C>T c.(3208-3210)ttC>ttT p.F1070F LAMA2_uc003qbn.3_Silent_p.F1070F|LAMA2_uc003qbo.3_Silent_p.F1070F NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1070 Laminin EGF-like 12. 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) CCTTGGATTTCCAATGCAATG 0.403000 10 18 0 0 0.043863 0 0 CD163L1 283316 broad.mit.edu 37 12 7559289 7559289 + Missense_Mutation SNP A C C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:7559289A>C uc010sge.2 - 4 982 c.956T>G c.(955-957)cTt>cGt p.L319R CD163L1_uc001qsy.3_Missense_Mutation_p.L309R NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 309 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGCGAAGTGAAGTGCGGTTCC 0.507000 28 44 0 0 0.048971 0 0 ANKH 56172 broad.mit.edu 37 5 14758613 14758614 + Missense_Mutation DNP GG AA AA TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:14758613_14758614GG>AA uc003jfm.4 - 2 738_739 c.407_408CC>TT c.(406-408)gcc>gTT p.A136V NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA. 136 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AAGGAAAGGCGGCGAGGTACAG 0.416000 20 9 0 0 0.004672 0 0 MST1P2 11209 broad.mit.edu 37 1 16975913 16975918 + RNA DEL CCTGTT - - TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:16975913_16975918delCCTGTT uc010och.2 + 10 c.1935_1940delCCTGTT MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GGTTGGGCACCCTGTTCCAGAACCCA 0.578 --- 6 --- --- 3 --- TRIM15 89870 broad.mit.edu 37 6 30139833 30139833 + Frame_Shift_Del DEL G - - TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:30139833delG uc010jrx.3 + 6 1584 c.1105delG c.(1105-1107)gggfs p.G369fs NM_033229 NP_150232 Q9C019 TRI15_HUMAN Homo sapiens tripartite motif containing 15 (TRIM15), mRNA. 369 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GGGGGTGGCCGGGGAGGGGGT 0.731 --- 5 --- --- 3 --- POM121 9883 broad.mit.edu 37 7 72413723 72413724 + In_Frame_Ins INS - CTC CTC rs67569765 byFrequency TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:72413723_72413724insCTC uc003twk.2 + 10 3191_3192 c.3191_3192insCTC c.(3190-3192)ttc>ttCTCc p.1064_1065insS POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 1064 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACTGCTGTCTTCTTCGGTGCAG 0.663 --- 86 --- --- 7 --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA - - rs142343457 byFrequency TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:28209226_28209228delGCA uc003xgq.3 - 6 1105_1107 c.1017_1019delTGC c.(1015-1020)gctgcc>gcc p.339_340AA>A ZNF395_uc003xgt.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.3_In_Frame_Del_p.339_340AA>A NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN Homo sapiens zinc finger protein 395 (ZNF395), mRNA. 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 --- 126 --- --- 7 --- FAM75C2 645961 broad.mit.edu 37 9 90744839 90744840 + Frame_Shift_Ins INS - T T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr9:90744839_90744840insT uc011lti.2 - 3 3141_3142 c.3112_3113insA c.(3112-3114)acafs p.T1038fs DQ587746_uc004apx.1_5'Flank NM_001166137 NP_001159609 B4DYI2 B4DYI2_HUMAN Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA. 1038 GTTTTTTACTGTTTTTTGGCTC 0.431 --- 19 --- --- 23 --- TM9SF3 56889 broad.mit.edu 37 10 98287894 98287895 + Frame_Shift_Ins INS - AT AT TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:98287894_98287895insAT uc001kmm.4 - 11 1651_1652 c.1434_1435insAT c.(1432-1437)tattatfs p.Y478fs NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA. 478 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) CCATAGACATAATAGATCTTAT 0.376 --- 30 --- --- 14 ---