Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut KLHL4 56062 broad.mit.edu 37 X 86773270 86773270 + Missense_Mutation SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chrX:86773270A>G ENST00000373119.4 + 1 519 c.374A>G c.(373-375)cAa>cGa p.Q125R KLHL4_ENST00000373114.4_Missense_Mutation_p.Q125R NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 125 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAACGCGCACAAGATTTGGAG 0.368000 57 34 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102281 22102281 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr14:22102281G>A ENST00000542433.1 - 1 815 c.718C>T c.(718-720)Cgc>Tgc p.R240C NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AAGGCCCGGCGCCTCCCATCA 0.552000 11 14 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095207 69095207 + Silent SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:69095207G>C ENST00000332644.5 - 8 875 c.714C>G c.(712-714)gtC>gtG p.V238V NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 238 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 TTCCAAAGTTGACAGTCCAAT 0.338000 8 38 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134993945 134993945 + Missense_Mutation SNP C C G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chrX:134993945C>G ENST00000535938.1 + 18 2521 c.2354C>G c.(2353-2355)gCg>gGg p.A785G SAGE1_ENST00000324447.3_Missense_Mutation_p.A785G|SAGE1_ENST00000370709.3_Missense_Mutation_p.A785G|SAGE1_ENST00000537770.1_Missense_Mutation_p.A409G NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 785 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AATGAATTTGCGGTAGGCACC 0.443000 34 85 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546300 11546300 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:11546300G>T ENST00000389362.4 - 3 747 c.712C>A c.(712-714)Cct>Act p.P238T PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTCCTGGAGGAGATCGGGCA 0.612000 20 647 1.68575e-08 2.07022e-08 1 1 0 C6orf118 168090 broad.mit.edu 37 6 165715646 165715646 + Translation_Start_Site SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr6:165715646G>A ENST00000543069.1 - 0 434 C6orf118_ENST00000230301.8_Silent_p.D55D Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 p.D55D(1) breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) AGAGGTAGACGTCCTCCCGGT 0.557000 22 85 0 0 1 0 0 MXI1 4601 broad.mit.edu 37 10 111967665 111967665 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr10:111967665C>A ENST00000332674.5 + 1 303 c.99C>A c.(97-99)ccC>ccA p.P33P RP11-549L6.3_ENST00000451656.1_RNA NM_130439.3 NP_569157.2 P50539 MXI1_HUMAN MAX interactor 1, dimerization protein 45 cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) tggccgcgccccagcccccgg 0.751000 3 11 0.004672 0.00480941 1 1 0 FRMPD4 9758 broad.mit.edu 37 X 12701695 12701695 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chrX:12701695G>A ENST00000380682.1 + 6 1068 c.562G>A c.(562-564)Ggc>Agc p.G188S NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 188 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CATCATCAACGGCCAAGTGTC 0.453000 5 14 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18828531 18828531 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr10:18828531T>A ENST00000396576.2 + 13 2197 c.1696T>A c.(1696-1698)Tgc>Agc p.C566S CACNB2_ENST00000377315.4_Missense_Mutation_p.C573S|CACNB2_ENST00000377328.1_Missense_Mutation_p.C371S|CACNB2_ENST00000377319.3_Missense_Mutation_p.C528S|CACNB2_ENST00000377329.4_Missense_Mutation_p.C567S|CACNB2_ENST00000282343.8_Missense_Mutation_p.C593S|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.C569S|CACNB2_ENST00000352115.6_Missense_Mutation_p.C597S|CACNB2_ENST00000324631.7_Missense_Mutation_p.C621S NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 621 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCACAACGAGTGCAACAAGCA 0.557000 15 63 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113494 55113494 + Missense_Mutation SNP T T C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr6:55113494T>C ENST00000370862.3 + 2 617 c.281T>C c.(280-282)gTc>gCc p.V94A NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 94 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TACTTCATAGTCAATCTTTCT 0.453000 44 130 0 0 1 0 0 LCE1B 353132 broad.mit.edu 37 1 152784945 152784945 + Missense_Mutation SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:152784945A>T ENST00000360090.3 + 1 499 c.23A>T c.(22-24)cAg>cTg p.Q8L NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 8 keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGAACCAGCAGCAGTGCCAG 0.602000 80 130 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131760464 131760464 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:131760464G>A ENST00000372577.2 + 31 3407 c.3386G>A c.(3385-3387)cGt>cAt p.R1129H NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1129 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCTGTGGTGCGTCGCCAGCTC 0.438000 36 228 0 0 1 0 0 GSTA5 221357 broad.mit.edu 37 6 52697743 52697743 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr6:52697743T>A ENST00000370989.1 - 6 618 c.460A>T c.(460-462)Agc>Tgc p.S154C GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.S154C Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 154 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) TCAGCCCAGCTCAGCTTGTTG 0.512000 20 131 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29598233 29598233 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:29598233G>T ENST00000318184.5 - 23 2858 c.2859C>A c.(2857-2859)agC>agA p.S953R OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 953 CUB 3. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AGACAATATAGCTTATACCAA 0.358000 33 38 9.93527e-08 1.18546e-07 1 1 0 SYT13 57586 broad.mit.edu 37 11 45267950 45267950 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr11:45267950C>A ENST00000020926.3 - 5 1071 c.960G>T c.(958-960)aaG>aaT p.K320N NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 320 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CCAGGAGCTCCTTGGACTGGT 0.597000 42 78 6.1244e-12 8.63171e-12 1 1 0 FMNL3 91010 broad.mit.edu 37 12 50041554 50041554 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:50041554C>T ENST00000335154.5 - 23 2943 c.2710G>A c.(2710-2712)Gag>Aag p.E904K FMNL3_ENST00000352151.5_Missense_Mutation_p.E853K|FMNL3_ENST00000293590.5_Missense_Mutation_p.E904K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E903K NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 904 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TTGGGACTCTCGCCAAAGTAG 0.517000 12 99 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48629410 48629410 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:48629410C>A ENST00000328333.8 - 10 1385 c.1278G>T c.(1276-1278)ctG>ctT p.L426L COL7A1_ENST00000454817.1_Silent_p.L426L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 426 Fibronectin type-III 3.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATGTGGGGCCCAGGATGACCG 0.662000 26 118 7.92952e-12 1.10278e-11 1 1 0 GABRA1 2554 broad.mit.edu 37 5 161324375 161324375 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:161324375G>T ENST00000428797.2 + 11 1673 c.1318G>T c.(1318-1320)Gct>Tct p.A440S GABRA1_ENST00000437025.2_Missense_Mutation_p.A440S|GABRA1_ENST00000393943.4_Missense_Mutation_p.A440S|GABRA1_ENST00000023897.6_Missense_Mutation_p.A440S|GABRA1_ENST00000420560.1_Missense_Mutation_p.A440S|GABRA1_ENST00000444819.1_Missense_Mutation_p.A440S NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 440 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AGTCTACTGGGCTACGTATTT 0.423000 23 92 3.28513e-13 4.69304e-13 1 1 0 GIMAP4 55303 broad.mit.edu 37 7 150269446 150269446 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:150269446T>A ENST00000255945.2 + 3 463 c.288T>A c.(286-288)aaT>aaA p.N96K GIMAP4_ENST00000461940.1_Missense_Mutation_p.N110K|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 96 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGTGCCCAATGCTGAAACGT 0.507000 26 45 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20036006 20036006 + Splice_Site SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:20036006T>A ENST00000440926.1 - 5 959 c.e5-2 SLC18A1_ENST00000437980.1_Splice_Site|SLC18A1_ENST00000381608.4_Splice_Site|SLC18A1_ENST00000265808.7_Splice_Site|SLC18A1_ENST00000519026.1_Splice_Site|SLC18A1_ENST00000276373.5_Splice_Site NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) TATCCAATCCTAAAAGGGAAT 0.358000 7 22 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638492 234638492 + Missense_Mutation SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:234638492G>C ENST00000482026.1 + 1 739 c.720G>C c.(718-720)caG>caC p.Q240H UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGCTTTTTCAGAGAGAGGTGT 0.507000 124 172 0 0 1 0 0 APCS 325 broad.mit.edu 37 1 159558026 159558026 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:159558026G>T ENST00000255040.2 + 2 297 c.200G>T c.(199-201)aGc>aTc p.S67I NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 67 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) CGTGCCTACAGCCTCTTCTCC 0.413000 37 99 4.62619e-21 7.30451e-21 1 1 0 NLRC3 197358 broad.mit.edu 37 16 3614256 3614256 + RNA SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr16:3614256G>A ENST00000301749.7 - 0 1087 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGAAGTCCAGAGGCGTCCTG 0.637000 6 27 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935673 47935673 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:47935673G>T ENST00000236877.6 - 9 2535 c.2140C>A c.(2140-2142)Cgg>Agg p.R714R SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Silent_p.R470R|SLC8A2_ENST00000539381.1_Silent_p.R177R NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 714 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CGCTCCTCCCGGGACCCGTCC 0.622000 25 104 1.16021e-09 1.47663e-09 1 1 0 GALNT14 79623 broad.mit.edu 37 2 31167808 31167808 + Splice_Site SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:31167808C>A ENST00000349752.5 - 8 1382 c.742_splice c.e8-1 p.G248_splice GALNT14_ENST00000406653.1_Splice_Site_p.G228_splice|GALNT14_ENST00000356174.3_Splice_Site_p.G215_splice|GALNT14_ENST00000324589.5_Splice_Site_p.G253_splice|GALNT14_ENST00000420311.2_Splice_Site_p.G213_splice|GALNT14_ENST00000486564.1_5'UTR NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 248 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CCAGTCAAACCCTACAACACA 0.577000 39 40 1.07121e-22 1.7172e-22 1 1 0 SPTBN1 6711 broad.mit.edu 37 2 54876169 54876169 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:54876169G>A ENST00000333896.5 + 24 5390 c.5005G>A c.(5005-5007)Ggt>Agt p.G1669S SPTBN1_ENST00000356805.4_Missense_Mutation_p.G1682S NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1682 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) ACTGTACGCTGGTCTGAAAGA 0.488000 28 37 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129915048 129915048 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:129915048G>T ENST00000222481.4 + 6 601 c.546G>T c.(544-546)gaG>gaT p.E182D NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 182 Substrate binding (By similarity). proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) ATGCTCGAGAGTGGGTTACAC 0.512000 10 51 1.58986e-06 1.84459e-06 1 1 0 COQ2 27235 broad.mit.edu 37 4 84191124 84191124 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:84191124C>A ENST00000311469.4 - 5 800 c.801G>T c.(799-801)gcG>gcT p.A267A COQ2_ENST00000311461.7_Silent_p.A217A|COQ2_ENST00000439031.2_Silent_p.A230A NM_015697.7 NP_056512.5 Q96H96 COQ2_HUMAN coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 217 glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1) 8 Hepatocellular(203;0.114) ATCCAAGTAACGCTCCCCAAT 0.403000 17 74 1.15919e-05 1.32298e-05 1 1 0 NRCAM 4897 broad.mit.edu 37 7 107848037 107848037 + Missense_Mutation SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:107848037A>G ENST00000379028.3 - 13 1612 c.1142T>C c.(1141-1143)aTc>aCc p.I381T NRCAM_ENST00000425651.2_Missense_Mutation_p.I381T|NRCAM_ENST00000379024.4_Missense_Mutation_p.I362T|NRCAM_ENST00000379022.4_Missense_Mutation_p.I381T|NRCAM_ENST00000413765.2_Missense_Mutation_p.I362T|NRCAM_ENST00000351718.4_Missense_Mutation_p.I375T Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 381 Ig-like 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AGCTCTGCAGATCAAGGTCCC 0.448000 5 61 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120906325 120906325 + Silent SNP T T C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:120906325T>C ENST00000310396.5 + 19 2822 c.2355T>C c.(2353-2355)taT>taC p.Y785Y NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TCATGTACTATCTTATTGAAA 0.363000 26 108 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83433159 83433159 + Silent SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:83433159G>A ENST00000296591.5 - 5 787 c.369C>T c.(367-369)tgC>tgT p.C123C EDIL3_ENST00000380138.3_Silent_p.C113C NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 123 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCTCAACTTCGCATTCATTTA 0.333000 13 80 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109954298 109954298 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr6:109954298C>A ENST00000424296.2 - 12 1158 c.1082G>T c.(1081-1083)gGt>gTt p.G361V AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.G361V|AK9_ENST00000285397.5_Missense_Mutation_p.G361V NM_001145128.2 NP_001138600.2 adenylate kinase 9 GTAGATTTTACCTAGAAAACT 0.333000 6 20 3.59834e-05 3.97711e-05 1 1 0 OR51A7 119687 broad.mit.edu 37 11 4929530 4929530 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr11:4929530G>T ENST00000359350.4 + 1 931 c.931G>T c.(931-933)Ggg>Tgg p.G311W MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G311W(1) breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TAATGTATGTGGGAGATAAGA 0.393000 33 36 2.80507e-11 3.75201e-11 1 1 0 PRB2 653247 broad.mit.edu 37 12 11546672 11546672 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:11546672G>T ENST00000389362.4 - 3 375 c.340C>A c.(340-342)Cct>Act p.P114T PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTCCTGGAGGAGATCGGGGA 0.612000 110 874 2.28164e-27 3.74332e-27 1 1 0 SACS 26278 broad.mit.edu 37 13 23908556 23908556 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr13:23908556C>A ENST00000382298.3 - 10 10047 c.9459G>T c.(9457-9459)ttG>ttT p.L3153F SACS_ENST00000402364.1_Missense_Mutation_p.L2403F|SACS_ENST00000382292.3_Missense_Mutation_p.L3153F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3153 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGAGAAGGGGCAATCCCTCAA 0.353000 6 13 0.0215528 0.0218651 1 1 0 KLK9 284366 broad.mit.edu 37 19 51506412 51506412 + Missense_Mutation SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:51506412G>C ENST00000376832.4 - 5 741 c.708C>G c.(706-708)agC>agG p.S236R KLK9_ENST00000594211.1_Missense_Mutation_p.S236R|KLK9_ENST00000250366.6_Missense_Mutation_p.S236R|CTB-147C22.9_ENST00000594512.1_RNA NM_012315.1 NP_036447.1 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 236 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) AGTGGCATACGCTGGTGTAGA 0.647000 9 171 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921285 24921285 + Missense_Mutation SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr15:24921285G>C ENST00000329468.2 + 1 745 c.271G>C c.(271-273)Ggg>Cgg p.G91R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGTGGGTTGGGGGCTGGCCAT 0.672000 15 49 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53741171 53741171 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:53741171T>A ENST00000333952.4 - 5 974 c.809A>T c.(808-810)aAg>aTg p.K270M ZNF677_ENST00000598513.1_Missense_Mutation_p.K270M Q86XU0 ZN677_HUMAN zinc finger protein 677 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) GCTAAAAGCCTTTCCACAGTC 0.358000 6 43 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103471662 103471662 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:103471662C>T ENST00000358392.2 - 17 2106 c.1789G>A c.(1789-1791)Gat>Aat p.D597N COL11A1_ENST00000370096.3_Missense_Mutation_p.D585N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D546N|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.D469N NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 585 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTCCTCCATCTGCACCTGGA 0.363000 26 27 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122154724 122154724 + Missense_Mutation SNP C C G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:122154724C>G ENST00000263710.4 - 30 3504 c.3115G>C c.(3115-3117)Gtg>Ctg p.V1039L CLASP1_ENST00000541859.1_Missense_Mutation_p.V795L|CLASP1_ENST00000541377.1_Missense_Mutation_p.V1017L|CLASP1_ENST00000545861.1_Missense_Mutation_p.V785L|CLASP1_ENST00000397587.3_Missense_Mutation_p.V1018L|CLASP1_ENST00000455322.2_Missense_Mutation_p.V1034L|CLASP1_ENST00000409078.3_Missense_Mutation_p.V1011L NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1039 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) ACCTTTCTCACGTCTGAACTC 0.428000 7 45 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114163317 114163317 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:114163317G>T ENST00000357077.4 + 9 896 c.843G>T c.(841-843)atG>atT p.M281I ANK2_ENST00000506722.1_Missense_Mutation_p.M260I|ANK2_ENST00000264366.6_Missense_Mutation_p.M281I|ANK2_ENST00000394537.3_Missense_Mutation_p.M281I NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 281 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATACAAACATGGTGAAGCTCT 0.433000 7 70 8.12818e-05 8.75343e-05 1 1 0 TAL1 6886 broad.mit.edu 37 1 47685462 47685462 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:47685462G>T ENST00000371883.3 - 4 1508 c.932C>A c.(931-933)gCg>gAg p.A311E TAL1_ENST00000294339.3_Missense_Mutation_p.A309E|TAL1_ENST00000371884.2_Missense_Mutation_p.A309E|TAL1_ENST00000459729.1_5'UTR P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 309 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 GTGTTTGGGCGCGGGCTCCTC 0.692000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 26 89 6.12954e-19 9.39564e-19 1 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95499293 95499293 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:95499293C>A ENST00000324972.6 + 6 717 c.524C>A c.(523-525)gCc>gAc p.A175D DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A138D|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A158D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A155D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A158D|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.A138D NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 175 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) ACTCCTCTTGCCACGCATCAG 0.448000 9 55 0.00448238 0.00463695 1 1 0 OR14A16 284532 broad.mit.edu 37 1 247978419 247978419 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:247978419C>A ENST00000357627.1 - 1 612 c.613G>T c.(613-615)Gat>Tat p.D205Y NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CAGCAGAAATCCAAAACTACA 0.378000 13 87 2.27111e-07 2.6794e-07 1 1 0 FERD3L 222894 broad.mit.edu 37 7 19184573 19184573 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:19184573G>T ENST00000275461.3 - 1 471 c.413C>A c.(412-414)tCc>tAc p.S138Y AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 138 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CTCGATCCGGGACAGCCTTTT 0.577000 8 73 0.0581538 0.058432 1 1 0 OR4A16 81327 broad.mit.edu 37 11 55111418 55111418 + Missense_Mutation SNP G G T rs141537673 TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr11:55111418G>T ENST00000314721.2 + 1 792 c.742G>T c.(742-744)Gtt>Ttt p.V248F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GGTTGCCCTCGTTTTTGTTCC 0.398000 33 36 8.16721e-17 1.23389e-16 1 1 0 ARHGAP24 83478 broad.mit.edu 37 4 86643125 86643125 + Splice_Site SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:86643125G>A ENST00000395184.1 + 3 734 c.268_splice c.e3+1 p.G90_splice ARHGAP24_ENST00000503995.1_Splice_Site_p.G90_splice|ARHGAP24_ENST00000506421.1_3'UTR NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 90 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AGTAGTTCCAGGTAAGATATT 0.378000 4 24 0 0 1 0 0 HSPBP1 23640 broad.mit.edu 37 19 55776713 55776713 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:55776713G>A ENST00000255631.5 - 8 1248 c.938C>T c.(937-939)cCg>cTg p.P313L HSPBP1_ENST00000376343.3_Missense_Mutation_p.P211L|HSPBP1_ENST00000433386.2_Missense_Mutation_p.P313L|HSPBP1_ENST00000587922.1_Missense_Mutation_p.P313L NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 316 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GCCCAGTTCCGGCTCCCGACA 0.652000 39 133 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72193901 72193901 + RNA SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:72193901T>A ENST00000438125.1 - 0 696 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TTGTGGTGCCTAGGAACAAGA 0.408000 3 22 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2688676 2688676 + Silent SNP T T G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr18:2688676T>G ENST00000320876.6 + 7 1142 c.804T>G c.(802-804)tcT>tcG p.S268S RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.S268S NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 268 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TTGTGCTTTCTAAAGAAGATT 0.279000 3 6 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169141194 169141194 + Missense_Mutation SNP T T C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:169141194T>C ENST00000256935.8 + 18 1902 c.1822T>C c.(1822-1824)Tcc>Ccc p.S608P DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S100P NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 608 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTGGTGTGCTCCACAAAGCT 0.542000 14 46 0 0 1 0 0 LDOC1 23641 broad.mit.edu 37 X 140271177 140271177 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chrX:140271177G>T ENST00000370526.2 - 1 133 c.30C>A c.(28-30)caC>caA p.H10Q LDOC1_ENST00000460721.1_5'UTR NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 10 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) TCAGGAGCGCGTGCAGCAGCA 0.677000 11 9 1.49906e-05 1.68344e-05 1 1 0 MTERF 7978 broad.mit.edu 37 7 91503720 91503720 + Nonsense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:91503720G>A ENST00000419292.1 - 2 404 c.328C>T c.(328-330)Cga>Tga p.R110* CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Nonsense_Mutation_p.R130*|MTERF_ENST00000406735.2_Nonsense_Mutation_p.R110* Q99551 MTERF_HUMAN mitochondrial transcription termination factor 130 DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) GTTATTGCTCGTGGATATCTT 0.403000 72 75 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165449 139165449 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:139165449C>T ENST00000395297.1 - 13 1439 c.1269G>A c.(1267-1269)ttG>ttA p.L423L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 423 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GATAAACACTCAAGTTATGCC 0.269000 HNSCC(54;0.14) 7 21 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44691222 44691222 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr20:44691222C>T ENST00000290231.6 - 8 1621 c.1457G>A c.(1456-1458)aGc>aAc p.S486N NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 486 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TCCCAAAATGCTTGGAGGCTG 0.572000 30 104 0 0 1 0 0 VIPR1 7433 broad.mit.edu 37 3 42572424 42572424 + Splice_Site SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:42572424G>T ENST00000433647.1 + 8 1291 c.667_splice c.e8+1 p.G223_splice VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000325123.4_Splice_Site_p.G264_splice|VIPR1_ENST00000543411.1_Splice_Site_p.G216_splice|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 264 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CATCGGCTGGGGTATGGTACC 0.612000 14 75 1.3612e-06 1.58807e-06 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 51 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130712919 130712919 + Translation_Start_Site SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:130712919G>T ENST00000373084.4 - 0 82 FAM102A_ENST00000373095.1_Intron|FAM102A_ENST00000300434.3_5'UTR NM_203305.2 NP_976050.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GAGGGAGACAGATAAAGCCCC 0.617000 10 18 3.86212e-05 4.24631e-05 1 1 0 NLRP7 199713 broad.mit.edu 37 19 55450939 55450939 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:55450939G>T ENST00000588756.1 - 6 1734 c.1248C>A c.(1246-1248)agC>agA p.S416R NLRP7_ENST00000328092.5_Missense_Mutation_p.S416R|NLRP7_ENST00000592784.1_Missense_Mutation_p.S416R|NLRP7_ENST00000448121.2_Missense_Mutation_p.S416R|NLRP7_ENST00000590030.1_Missense_Mutation_p.S416R|NLRP7_ENST00000446217.1_Missense_Mutation_p.S444R|NLRP7_ENST00000340844.2_Missense_Mutation_p.S416R Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 416 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGGCCAGGAGGCTCAGCGTCC 0.711000 9 28 0.00448238 0.00463695 1 1 0 TP73-AS1 57212 broad.mit.edu 37 1 3662326 3662326 + RNA SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:3662326G>A ENST00000452079.1 - 0 1560 TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA NR_033711.1 CTCTGCAGCAGTGCCGGGCTC 0.632000 16 17 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71510249 71510249 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:71510249C>A ENST00000396073.3 + 9 3387 c.3106C>A c.(3106-3108)Caa>Aaa p.Q1036K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1036 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CATCCAAAGTCAAGTCCAAGA 0.443000 35 57 7.11191e-15 1.05922e-14 1 1 0 LRP1 4035 broad.mit.edu 37 12 57577283 57577283 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:57577283C>A ENST00000243077.3 + 35 6250 c.5784C>A c.(5782-5784)gaC>gaA p.D1928E NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1928 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCGGCATCGACTTCCACGCTG 0.612000 9 26 1.12685e-05 1.29311e-05 1 1 0 ZNF184 7738 broad.mit.edu 37 6 27425103 27425103 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr6:27425103C>A ENST00000211936.6 - 4 445 c.161G>T c.(160-162)aGg>aTg p.R54M ZNF184_ENST00000377419.1_Missense_Mutation_p.R54M NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TGTCACATCCCTGAACAAATC 0.443000 45 57 7.05121e-23 1.13904e-22 1 1 0 NPR3 4883 broad.mit.edu 37 5 32784903 32784903 + Splice_Site SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:32784903A>T ENST00000265074.8 + 7 1771 c.1426_splice c.e7-1 p.S476_splice NPR3_ENST00000415167.2_Splice_Site|NPR3_ENST00000434067.2_Splice_Site_p.S260_splice|NPR3_ENST00000415685.2_Splice_Site NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 476 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TTTTTCAAGCAGGTGGCCTAG 0.458000 10 68 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79635356 79635356 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:79635356C>T ENST00000376708.1 + 1 786 c.786C>T c.(784-786)tcC>tcT p.S262S NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 262 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 ccgcGGCGTCCACGTCAGGCT 0.711000 10 47 0 0 1 0 0 DMRTA1 63951 broad.mit.edu 37 9 22447347 22447347 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:22447347C>A ENST00000325870.1 + 1 508 c.283C>A c.(283-285)Ccc>Acc p.P95T NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 95 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) CCCGCGGACGCCCAAGTGCGC 0.741000 4 8 0.150653 0.150653 1 1 0 SORCS1 114815 broad.mit.edu 37 10 108377951 108377951 + Missense_Mutation SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr10:108377951G>C ENST00000263054.6 - 21 2883 c.2876C>G c.(2875-2877)gCt>gGt p.A959G SORCS1_ENST00000369698.1_Missense_Mutation_p.A494G|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.A959G NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 959 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GGCATTCCCAGCTGAGACCTG 0.468000 17 60 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767552 31767552 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:31767552G>T ENST00000240587.4 - 2 3474 c.3147C>A c.(3145-3147)acC>acA p.T1049T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1049 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGCTGGCAAAGGTCCGATTGC 0.493000 14 63 4.3838e-07 5.14301e-07 1 1 0 EPHB6 2051 broad.mit.edu 37 7 142568144 142568144 + Missense_Mutation SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:142568144G>C ENST00000392957.2 + 18 3572 c.2785G>C c.(2785-2787)Ggg>Cgg p.G929R EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G929R|EPHB6_ENST00000411471.2_Missense_Mutation_p.G652R NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 929 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCAGGCTGGCGGGGACCCAGG 0.582000 25 115 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165439 139165439 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:139165439G>A ENST00000395297.1 - 13 1449 c.1279C>T c.(1279-1281)Cct>Tct p.P427S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 427 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCAAAATTAGGATAAACACTC 0.294000 HNSCC(54;0.14) 12 20 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42988741 42988741 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr17:42988741C>A ENST00000253408.5 - 6 1055 c.990G>T c.(988-990)cgG>cgT p.R330R GFAP_ENST00000435360.2_Silent_p.R330R|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.R330R NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 330 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) CTTCCTCCAGCCGCGCCAGCG 0.657000 20 63 1.56452e-12 2.21993e-12 1 1 0 PNPLA6 10908 broad.mit.edu 37 19 7626097 7626097 + Missense_Mutation SNP A A G rs141102875 by1000genomes TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:7626097A>G ENST00000221249.6 + 34 4234 c.3803A>G c.(3802-3804)gAg>gGg p.E1268G PNPLA6_ENST00000600737.1_Missense_Mutation_p.E1306G|PNPLA6_ENST00000545201.2_Missense_Mutation_p.E1241G|PNPLA6_ENST00000450331.3_Missense_Mutation_p.E1268G|PNPLA6_ENST00000414982.3_Missense_Mutation_p.E1316G NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1307 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 ATTCCAGGAGAGGAGTCAGAT 0.677000 8 13 0 0 1 0 0 CCDC66 285331 broad.mit.edu 37 3 56653839 56653839 + Missense_Mutation SNP C C G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:56653839C>G ENST00000394672.3 + 17 2740 c.2670C>G c.(2668-2670)gaC>gaG p.D890E CCDC66_ENST00000436465.2_Missense_Mutation_p.D890E|CCDC66_ENST00000326595.7_Missense_Mutation_p.D856E NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 890 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TTGATTCTGACTGTGTCAGGG 0.403000 28 127 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36565756 36565756 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:36565756C>A ENST00000397799.1 - 3 312 c.88G>T c.(88-90)Ggc>Tgc p.G30C COL8A2_ENST00000303143.4_Missense_Mutation_p.G30C|COL8A2_ENST00000481785.1_Intron P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 30 Nonhelical region (NC2). angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCGGCCCCGCCACCAGAGGAC 0.677000 OREG0013361 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 27 0.0381472 0.038514 1 1 0 ZNF304 57343 broad.mit.edu 37 19 57868115 57868115 + Missense_Mutation SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:57868115A>T ENST00000391705.3 + 4 1162 c.878A>T c.(877-879)cAc>cTc p.H293L ZNF304_ENST00000598744.1_Missense_Mutation_p.H251L|ZNF304_ENST00000443917.2_Missense_Mutation_p.H340L|ZNF304_ENST00000282286.5_Missense_Mutation_p.H293L NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CACTTGCACCACCTAAAAATG 0.418000 19 37 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143048721 143048721 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:143048721G>T ENST00000343257.2 + 23 2717 c.2630G>T c.(2629-2631)gGg>gTg p.G877V NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 877 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACCAAGTCTGGGGTGCAGCTC 0.542000 14 33 1.49906e-05 1.68344e-05 1 1 0 SLC19A1 6573 broad.mit.edu 37 21 46945843 46945843 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr21:46945843T>A ENST00000311124.4 - 5 1333 c.1181A>T c.(1180-1182)gAg>gTg p.E394V SLC19A1_ENST00000380010.4_Missense_Mutation_p.E394V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.E394V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.E354V NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 394 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GGCACAGAGCTCTTTAGACAG 0.567000 36 103 0 0 1 0 0 MAGT1 84061 broad.mit.edu 37 X 77112343 77112343 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chrX:77112343C>T ENST00000358075.6 - 5 741 c.655G>A c.(655-657)Gct>Act p.A219T NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 187 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 AGGGGACCAGCATAATTTGGG 0.328000 19 44 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66201803 66201803 + Missense_Mutation SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:66201803G>C ENST00000273854.3 - 16 3299 c.2699C>G c.(2698-2700)cCc>cGc p.P900R EPHA5_ENST00000432638.2_Missense_Mutation_p.P737R|EPHA5_ENST00000511294.1_Missense_Mutation_p.P901R|EPHA5_ENST00000354839.4_Missense_Mutation_p.P878R NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 900 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ACAATCCATGGGGCTTGGCAG 0.443000 TSP Lung(17;0.13) 21 29 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56823520 56823520 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:56823520G>T ENST00000257287.4 + 5 728 c.604G>T c.(604-606)Gct>Tct p.A202S CEP135_ENST00000422247.2_Missense_Mutation_p.A202S NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 202 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) CCTTCAAGTGGCTGATAACAG 0.413000 13 56 7.03913e-09 8.79891e-09 1 1 0 STK11 6794 broad.mit.edu 37 19 1207009 1207009 + Nonsense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:1207009G>T ENST00000326873.7 + 1 1270 c.97G>T c.(97-99)Gag>Tag p.E33* STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 33 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.E33*(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CGACTCCACCGAGGTCATCTA 0.632000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 10 20 1.76689e-08 2.15725e-08 1 1 0 GRHL3 57822 broad.mit.edu 37 1 24668606 24668606 + Splice_Site SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:24668606T>A ENST00000361548.4 + 9 1279 c.1047_splice c.e9-1 p.V350_splice GRHL3_ENST00000236255.4_Splice_Site_p.V355_splice|GRHL3_ENST00000356046.2_Splice_Site_p.V304_splice|GRHL3_ENST00000350501.5_Splice_Site_p.V350_splice|GRHL3_ENST00000342072.4_Splice_Site_p.V257_splice NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 350 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) TGTCTCCAGGTGTTCATCGGC 0.572000 49 128 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228468088 228468088 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:228468088G>T ENST00000570156.2 + 34 9233 c.9159G>T c.(9157-9159)gcG>gcT p.A3053A OBSCN_ENST00000422127.1_Silent_p.A2624A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A2624A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.A1471A NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2054 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGCTGATGCGGGCATAGTAC 0.622000 4 13 0.00024832 0.000266057 1 1 0 TRIO 7204 broad.mit.edu 37 5 14481384 14481384 + Silent SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:14481384A>G ENST00000344204.4 + 44 6402 c.6378A>G c.(6376-6378)tcA>tcG p.S2126S TRIO_ENST00000537187.1_Silent_p.S2126S NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2126 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TGGATACATCAGAATTAGAGG 0.502000 39 199 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160898556 160898556 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:160898556C>A ENST00000283243.7 - 3 853 c.647G>T c.(646-648)tGg>tTg p.W216L PLA2R1_ENST00000392771.1_Missense_Mutation_p.W216L NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 216 Fibronectin type-II. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GCAAAATCCCCACTTTTCATC 0.393000 23 130 1.66031e-10 2.17915e-10 1 1 0 CFB 629 broad.mit.edu 37 6 31916606 31916606 + Splice_Site SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr6:31916606G>C ENST00000456570.1 + 20 2597 c.e20-1 CFB_ENST00000425368.2_Splice_Site|CFB_ENST00000497841.1_Splice_Site|CFB_ENST00000477310.1_Splice_Site|CFB_ENST00000556679.1_Splice_Site P00751 CFAB_HUMAN complement factor B complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCTCTCCACAGACCACAAGTT 0.512000 18 63 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96609703 96609703 + Silent SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr10:96609703T>A ENST00000371321.3 + 8 1261 c.1179T>A c.(1177-1179)tcT>tcA p.S393S CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 393 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCCTCACTTCTGTGCTACATG 0.398000 19 104 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129039947 129039947 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:129039947G>T ENST00000274487.4 + 21 3302 c.3157G>T c.(3157-3159)Ggc>Tgc p.G1053C ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1053 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGTCAAGTGTGGCAAAGGCAT 0.428000 35 100 9.65963e-10 1.24449e-09 1 1 0 ATP13A3 79572 broad.mit.edu 37 3 194165453 194165453 + Splice_Site SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:194165453C>A ENST00000439040.1 - 15 2351 c.e15+1 ATP13A3_ENST00000256031.4_Splice_Site Q9H7F0 AT133_HUMAN ATPase type 13A3 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTAATATTTACCGTGCATTTT 0.313000 25 66 4.7796e-09 6.01028e-09 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139151269 139151269 + Missense_Mutation SNP A A C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:139151269A>C ENST00000395297.1 - 18 4031 c.3861T>G c.(3859-3861)gaT>gaG p.D1287E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1287 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATTTGCGCAAATCAGCATTAT 0.433000 HNSCC(54;0.14) 58 79 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102783751 102783751 + Silent SNP A A C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:102783751A>C ENST00000504592.1 + 8 1066 c.648A>C c.(646-648)acA>acC p.T216T BANK1_ENST00000508653.1_Silent_p.T98T|BANK1_ENST00000322953.4_Silent_p.T231T|BANK1_ENST00000428908.1_Silent_p.T98T|BANK1_ENST00000444316.2_Silent_p.T201T Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 231 DBB. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TTGAATTTACATCAAGTAATA 0.333000 19 27 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21847634 21847634 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:21847634G>T ENST00000328843.6 + 64 10351 c.10320G>T c.(10318-10320)gtG>gtT p.V3440V DNAH11_ENST00000409508.3_Silent_p.V3433V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3440 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGGAGCTGGTGCACTGCAAGT 0.468000 Kartagener syndrome 8 9 0.00448238 0.00463695 1 1 0 PAEP 5047 broad.mit.edu 37 9 138454243 138454243 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:138454243C>A ENST00000479141.1 + 2 244 c.200C>A c.(199-201)aCc>aAc p.T67N PAEP_ENST00000371766.2_Missense_Mutation_p.T67N|PAEP_ENST00000277508.5_Missense_Mutation_p.T67N NM_002571.2 NP_002562.2 P09466 PAEP_HUMAN progestagen-associated endometrial protein 67 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CTGTTGCCCACCCCCGAGGAC 0.622000 14 55 1.15088e-07 1.36545e-07 1 1 0 SMOC1 64093 broad.mit.edu 37 14 70490118 70490118 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr14:70490118C>A ENST00000381280.4 + 11 1498 c.1245C>A c.(1243-1245)gtC>gtA p.V415V SMOC1_ENST00000361956.3_Silent_p.V415V NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 415 EF-hand 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) AAGACAAGGTCATTTCACTGC 0.547000 51 199 3.85841e-42 6.64153e-42 1 1 0 DNAJC12 56521 broad.mit.edu 37 10 69565452 69565452 + Nonsense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr10:69565452C>A ENST00000225171.2 - 4 543 c.391G>T c.(391-393)Gag>Tag p.E131* DNAJC12_ENST00000483798.2_Nonsense_Mutation_p.E161* NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 131 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 TCTCTTTGCTCATTACATTCC 0.443000 46 97 4.44401e-20 6.91291e-20 1 1 0 UHRF2 115426 broad.mit.edu 37 9 6499927 6499927 + Silent SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:6499927A>G ENST00000276893.5 + 13 2169 c.2001A>G c.(1999-2001)tcA>tcG p.S667S UHRF2_ENST00000485617.2_3'UTR NM_152896.2 NP_690856.1 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase 667 cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1) 17 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) GGCCAATTTCAGATGGTAGGT 0.428000 3 28 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155474 151155474 + Missense_Mutation SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:151155474A>T ENST00000282466.3 - 6 6874 c.6875T>A c.(6874-6876)gTc>gAc p.V2292D IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2292 Ig-like C2-type 9. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTTTTATGGACTGTGATTCT 0.458000 18 67 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36776396 36776396 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:36776396C>T ENST00000399881.3 + 23 2614 c.2577C>T c.(2575-2577)gtC>gtT p.V859V NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 859 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GCCGAAAAGTCCCTATCCTTA 0.363000 40 48 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248403038 248403038 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:248403038C>A ENST00000306687.1 + 1 808 c.808C>A c.(808-810)Cag>Aag p.Q270K NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACGCCAGACCAGGACAAGAT 0.507000 12 111 6.31663e-08 7.57995e-08 1 1 0 PLRG1 5356 broad.mit.edu 37 4 155459138 155459138 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:155459138C>A ENST00000499023.2 - 13 1400 c.1274G>T c.(1273-1275)gGa>gTa p.G425V PLRG1_ENST00000393905.2_Missense_Mutation_p.G425V|PLRG1_ENST00000302078.5_Missense_Mutation_p.G416V NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 425 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) TACAAGCACTCCATCAGAATT 0.294000 5 57 0.000602214 0.000638712 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34118028 34118028 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:34118028C>A ENST00000373381.4 - 28 4657 c.4481G>T c.(4480-4482)gGa>gTa p.G1494V CSMD2_ENST00000373380.1_Missense_Mutation_p.G367V|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1454 CUB 9. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAGGATGACTCCAGATGGTCC 0.562000 20 98 4.96729e-08 5.99501e-08 1 1 0 MUC16 94025 broad.mit.edu 37 19 9048251 9048251 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:9048251G>A ENST00000397910.4 - 5 33583 c.33380C>T c.(33379-33381)cCt>cTt p.P11127L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11129 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCCATTGAAGGTGTGGTCTC 0.498000 33 50 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196205148 196205148 + Silent SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:196205148A>T ENST00000367433.5 - 26 3293 c.3192T>A c.(3190-3192)tcT>tcA p.S1064S KCNT2_ENST00000367431.4_Silent_p.S1022S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.S1088S Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1088 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 TGGTATCTGGAGATGGGTTAA 0.299000 71 191 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46944040 46944040 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:46944040G>T ENST00000449590.1 + 14 1439 c.1236G>T c.(1234-1236)gtG>gtT p.V412V PTH1R_ENST00000430002.2_Silent_p.V412V|PTH1R_ENST00000418619.1_Silent_p.V412V|PTH1R_ENST00000313049.5_Silent_p.V412V NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 412 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CCACGCTGGTGCTCATGCCCC 0.597000 5 16 0.0215528 0.0218651 1 1 0 LRRC17 10234 broad.mit.edu 37 7 102580021 102580021 + Missense_Mutation SNP T T G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:102580021T>G ENST00000249377.4 + 3 1198 c.917T>G c.(916-918)tTc>tGc p.F306C LRRC17_ENST00000339431.4_Missense_Mutation_p.F306C|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000393772.2_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 306 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 GGCATTGAATTCATCGATCCT 0.383000 18 97 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229730303 229730303 + Missense_Mutation SNP T T G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:229730303T>G ENST00000258281.2 - 5 1676 c.1511A>C c.(1510-1512)aAa>aCa p.K504T TAF5L_ENST00000366676.1_Missense_Mutation_p.K504T NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 504 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) TCTCAACTCTTTATAAAGGGT 0.562000 8 94 0 0 1 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5549474 5549474 + Silent SNP C C A rs56043856 TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:5549474C>A ENST00000397747.3 + 4 749 c.501C>A c.(499-501)tcC>tcA p.S167S PDCD1LG2_ENST00000397745.2_Intron NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 167 Ig-like C2-type. immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) CCAGCCACTCCAGGACCCCTG 0.562000 16 51 3.45872e-05 3.84302e-05 1 1 0 PIM2 11040 broad.mit.edu 37 X 48776079 48776079 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chrX:48776079C>A ENST00000376509.4 - 1 222 c.33G>T c.(31-33)gcG>gcT p.A11A NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 11 anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 TCCCGGGGGGCGCGGGAGGCC 0.701000 12 15 6.72482e-11 8.88184e-11 1 1 0 DMRTA1 63951 broad.mit.edu 37 9 22447346 22447346 + Silent SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:22447346G>A ENST00000325870.1 + 1 507 c.282G>A c.(280-282)acG>acA p.T94T NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 94 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) ACCCGCGGACGCCCAAGTGCG 0.746000 4 8 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868314 97868314 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:97868314C>A ENST00000437310.1 + 1 145 c.85C>A c.(85-87)Ctg>Atg p.L29M NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L29M(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACCCCTGTTCCTGGCATTCTT 0.418000 78 136 9.53938e-30 1.57738e-29 1 1 0 DENND1A 57706 broad.mit.edu 37 9 126144811 126144811 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:126144811C>A ENST00000373624.2 - 22 2131 c.1930G>T c.(1930-1932)Gac>Tac p.D644Y DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.D429Y|DENND1A_ENST00000394219.3_Missense_Mutation_p.D655Y NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 644 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GCCATGTCGTCCTGGCCCAGG 0.662000 35 82 2.05212e-20 3.21601e-20 1 1 0 NOX3 50508 broad.mit.edu 37 6 155761216 155761216 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr6:155761216G>A ENST00000159060.2 - 6 644 c.542C>T c.(541-543)tCt>tTt p.S181F NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 181 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TAAAGCCAGAGAGATCACCAG 0.398000 11 52 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52284553 52284553 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:52284553C>T ENST00000356297.4 - 19 3881 c.3781G>A c.(3781-3783)Ggt>Agt p.G1261S PXDNL_ENST00000543296.1_Missense_Mutation_p.G1261S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1261 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATGCTGTCACCATTGTCACAA 0.527000 24 20 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217604609 217604609 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:217604609C>T ENST00000366935.3 - 10 1575 c.1465G>A c.(1465-1467)Gat>Aat p.D489N NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 489 G-patch. intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) CCCTTGCCATCTCGTCCAAGG 0.483000 12 219 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60098626 60098626 + Translation_Start_Site SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:60098626A>T ENST00000543448.1 + 0 192 SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000547379.1_Missense_Mutation_p.D15V|SLC16A7_ENST00000552024.1_Missense_Mutation_p.D15V|SLC16A7_ENST00000261187.4_Missense_Mutation_p.D15V|SLC16A7_ENST00000549465.1_Missense_Mutation_p.D15V|SLC16A7_ENST00000552432.1_Missense_Mutation_p.D15V O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) CCACCTCCAGATGGAGGATGG 0.428000 24 17 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905921 164905921 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:164905921C>A ENST00000475390.1 - 2 3141 c.2698G>T c.(2698-2700)Gtg>Ttg p.V900L SLITRK3_ENST00000241274.3_Missense_Mutation_p.V900L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 900 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AGACAGTCCACAAATCCCACT 0.557000 HNSCC(40;0.11) 32 49 2.61193e-14 3.86272e-14 1 1 0 USH2A 7399 broad.mit.edu 37 1 216420259 216420259 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:216420259C>A ENST00000366943.2 - 13 2863 c.2477G>T c.(2476-2478)tGc>tTc p.C826F USH2A_ENST00000366942.3_Missense_Mutation_p.C826F|USH2A_ENST00000307340.3_Missense_Mutation_p.C826F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 826 Laminin EGF-like 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACATTTATTGCACTGTCTCCC 0.478000 HNSCC(13;0.011) 22 140 2.89027e-11 3.8415e-11 1 1 0 DLGAP3 58512 broad.mit.edu 37 1 35370048 35370048 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:35370048G>T ENST00000373347.1 - 3 1205 c.937C>A c.(937-939)Ctt>Att p.L313I DLGAP3_ENST00000235180.4_Missense_Mutation_p.L313I O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 313 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GTGCAGGCAAGGCAGCGGCCT 0.652000 28 63 1.12875e-08 1.39434e-08 1 1 0 USP32 84669 broad.mit.edu 37 17 58297057 58297057 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr17:58297057T>A ENST00000300896.4 - 16 2035 c.1841A>T c.(1840-1842)cAg>cTg p.Q614L USP32_ENST00000592339.1_Missense_Mutation_p.Q284L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 614 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GTTAGACTGCTGTGTCCGAGT 0.453000 13 65 0 0 1 0 0 EFCAB2 84288 broad.mit.edu 37 1 245250578 245250578 + Silent SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:245250578A>G ENST00000366523.1 + 8 670 c.405A>G c.(403-405)gaA>gaG p.E135E EFCAB2_ENST00000487845.1_Intron|EFCAB2_ENST00000447569.2_Intron|EFCAB2_ENST00000366522.2_Intron NM_032328.3 NP_115704.1 Q5VUJ9 EFCB2_HUMAN EF-hand calcium binding domain 2 0 calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2) 13 all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982) OV - Ovarian serous cystadenocarcinoma(106;0.015) AAATGGAAGAAATGTTGTCTG 0.318000 4 58 0 0 1 0 0 C11orf42 160298 broad.mit.edu 37 11 6231843 6231843 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr11:6231843G>A ENST00000316375.2 + 2 886 c.836G>A c.(835-837)cGa>cAa p.R279Q NM_173525.2 NP_775796.2 Q8N5U0 CK042_HUMAN chromosome 11 open reading frame 42 279 Pro-rich. endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACAAGGGCCGAAACCCCTTC 0.582000 35 35 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224700 248224700 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:248224700C>A ENST00000359959.3 + 1 717 c.717C>A c.(715-717)acC>acA p.T239T OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCTACCTGACCTGCAGCACCC 0.478000 24 214 3.28513e-13 4.69304e-13 1 1 0 DENND2C 163259 broad.mit.edu 37 1 115166139 115166139 + Missense_Mutation SNP T T C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:115166139T>C ENST00000393274.1 - 5 1557 c.932A>G c.(931-933)gAa>gGa p.E311G DENND2C_ENST00000481894.1_Intron|DENND2C_ENST00000393277.1_Missense_Mutation_p.E311G|DENND2C_ENST00000393276.3_Missense_Mutation_p.E311G NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 311 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TATGATATCTTCATAGATATT 0.353000 3 31 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79326177 79326177 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:79326177G>T ENST00000376718.3 - 8 1136 c.1013C>A c.(1012-1014)cCt>cAt p.P338H PRUNE2_ENST00000428286.1_5'UTR NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 338 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGTCACTGAAGGGTCCTCTTG 0.512000 6 13 0.00116845 0.00123303 1 1 0 SH3TC2 79628 broad.mit.edu 37 5 148406461 148406461 + Missense_Mutation SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:148406461A>T ENST00000538184.1 - 7 2363 c.1475T>A c.(1474-1476)aTg>aAg p.M492K SH3TC2_ENST00000394358.2_Missense_Mutation_p.M830K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.M938K|SH3TC2_ENST00000515425.1_Missense_Mutation_p.M945K Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 945 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCAATGCCATTTCATAACA 0.443000 30 140 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45695938 45695938 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:45695938C>A ENST00000303230.4 - 1 315 c.258G>T c.(256-258)ggG>ggT p.G86G NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 86 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GCCGCCGGGGCCCCTCGGCGT 0.706000 11 23 9.05144e-12 1.25053e-11 1 1 0 LRTOMT 220074 broad.mit.edu 37 11 71804553 71804553 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr11:71804553G>A ENST00000324866.7 + 4 260 c.94G>A c.(94-96)Gag>Aag p.E32K LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000289488.2_Missense_Mutation_p.E32K|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E14K|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E32K|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000307198.7_5'UTR NM_001271471.2 NP_001258400.1 Q96E66 LRC51_HUMAN leucine rich transmembrane and O-methyltransferase domain containing 32 cytoplasm large_intestine(2)|lung(1)|ovary(1) 4 TCTGGTAAATGAGGAGCCAAG 0.488000 4 19 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7691293 7691293 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:7691293C>T ENST00000507866.2 + 11 1678 c.1569C>T c.(1567-1569)gcC>gcT p.A523A SORCS2_ENST00000329016.9_Silent_p.A351A NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 523 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 AGGACACCGCCCCAGGCCTCA 0.587000 4 10 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40041491 40041491 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:40041491C>A ENST00000372857.3 - 1 925 c.133G>T c.(133-135)Gat>Tat p.D45Y PABPC4_ENST00000372862.3_Missense_Mutation_p.D45Y|PABPC4_ENST00000372856.3_Missense_Mutation_p.D45Y|PABPC4_ENST00000372858.3_Missense_Mutation_p.D45Y NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 45 RRM 1. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GTGATCATATCGCGGCAGACC 0.652000 15 31 0.000566183 0.000603546 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139164901 139164901 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:139164901G>A ENST00000395297.1 - 13 1987 c.1817C>T c.(1816-1818)tCt>tTt p.S606F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 606 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTTGTCTGAAGAGATGGCATT 0.453000 HNSCC(54;0.14) 119 139 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43360190 43360190 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr15:43360190T>A ENST00000290650.4 - 6 782 c.704A>T c.(703-705)cAc>cTc p.H235L UBR1_ENST00000382177.2_Missense_Mutation_p.H235L NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 235 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ATATGAATGGTGTTCATCATT 0.368000 27 47 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43540318 43540318 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:43540318G>A ENST00000395891.1 + 20 4063 c.3458G>A c.(3457-3459)cGg>cAg p.R1153Q HECW1_ENST00000453890.1_Missense_Mutation_p.R1119Q NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1153 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CATTACATTCGGACTGAGGGT 0.418000 23 149 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51449356 51449356 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:51449356C>A ENST00000522124.1 + 11 1329 c.668C>A c.(667-669)aCa>aAa p.T223K SNTG1_ENST00000517473.1_Missense_Mutation_p.T223K|SNTG1_ENST00000276467.5_Missense_Mutation_p.T223K|SNTG1_ENST00000518864.1_Missense_Mutation_p.T223K NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 223 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTGCCCGGCACAGATTTGAGT 0.473000 59 290 3.40343e-31 5.71776e-31 1 1 0 EDIL3 10085 broad.mit.edu 37 5 83433160 83433160 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:83433160C>A ENST00000296591.5 - 5 786 c.368G>T c.(367-369)tGc>tTc p.C123F EDIL3_ENST00000380138.3_Missense_Mutation_p.C113F NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 123 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) CTCAACTTCGCATTCATTTAT 0.333000 12 80 1.05317e-09 1.34857e-09 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41725617 41725617 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr21:41725617T>A ENST00000400454.1 - 5 1186 c.709A>T c.(709-711)Atg>Ttg p.M237L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 237 Ig-like C2-type 3. 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 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) TGCCCAGCCATGGCTTTGCGA 0.547000 6 28 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763729 14763729 + Nonsense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr18:14763729G>T ENST00000358984.4 + 7 1045 c.865G>T c.(865-867)Gaa>Taa p.E289* ANKRD30B_ENST00000447268.2_Nonsense_Mutation_p.E289*|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 289 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ACCCTTGGCGGAAAGAACACC 0.478000 8 22 2.74318e-10 3.57806e-10 1 1 0 EMC2 9694 broad.mit.edu 37 8 109462682 109462682 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:109462682G>T ENST00000220853.3 + 3 215 c.180G>T c.(178-180)atG>atT p.M60I NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 AACAGGTGATGATTGCAGCAC 0.313000 78 77 9.54843e-35 1.61707e-34 1 1 0 ZNF114 163071 broad.mit.edu 37 19 48789046 48789046 + Silent SNP C C T rs150295509 by1000genomes TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:48789046C>T ENST00000595607.1 + 6 659 c.165C>T c.(163-165)gaC>gaT p.D55D ZNF114_ENST00000600687.1_Silent_p.D55D|ZNF114_ENST00000597695.1_Silent_p.D21D|ZNF114_ENST00000315849.1_Silent_p.D55D Q8NC26 ZN114_HUMAN zinc finger protein 114 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) AAACCAAAGACGCAACCCCTC 0.428000 12 73 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067382 190067382 + Nonsense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:190067382G>T ENST00000367462.3 - 8 2298 c.2067C>A c.(2065-2067)taC>taA p.Y689* FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Nonsense_Mutation_p.Y587* NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 689 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GAGTATAGGGGTAGTCCAGCT 0.468000 18 94 2.35188e-11 3.18642e-11 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141116420 141116420 + Missense_Mutation SNP C C A rs150879175 byFrequency TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:141116420C>A ENST00000389484.3 - 73 12198 c.11227G>T c.(11227-11229)Ggt>Tgt p.G3743C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3743 LDL-receptor class A 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G3743S(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAATTGTCACCGCATTCATCA 0.398000 TSP Lung(27;0.18) 59 85 1.88225e-35 3.2136e-35 1 1 0 L3MBTL1 26013 broad.mit.edu 37 20 42169596 42169596 + Missense_Mutation SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr20:42169596A>T ENST00000373135.3 + 19 2279 c.2147A>T c.(2146-2148)cAt>cTt p.H716L L3MBTL1_ENST00000418998.1_Missense_Mutation_p.H784L|L3MBTL1_ENST00000373134.1_3'UTR|L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.H784L NM_015478.6 NP_056293.4 Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 0 SAM. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 AGAGTGACCCATGTATCTGGG 0.562000 4 24 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19591255 19591255 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:19591255T>A ENST00000507958.1 - 9 1900 c.910A>T c.(910-912)Acc>Tcc p.T304S CDH18_ENST00000274170.4_Missense_Mutation_p.T304S|CDH18_ENST00000502796.1_Missense_Mutation_p.T304S|CDH18_ENST00000382275.1_Missense_Mutation_p.T304S|CDH18_ENST00000511273.1_Missense_Mutation_p.T304S|CDH18_ENST00000506372.1_Missense_Mutation_p.T304S Q13634 CAD18_HUMAN cadherin 18, type 2 304 Cadherin 3. 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) ATGGAGTAGGTCATGTCAGCA 0.413000 29 51 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704298 60704298 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr11:60704298C>T ENST00000005286.4 + 11 3147 c.2994C>T c.(2992-2994)atC>atT p.I998I TMEM132A_ENST00000453848.2_Silent_p.I997I NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 997 Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 AGGAGGACATCCGCTGGGTGT 0.627000 5 58 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 175995990 175995990 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:175995990C>T ENST00000510636.1 + 5 568 c.294C>T c.(292-294)tcC>tcT p.S98S CDHR2_ENST00000261944.5_Silent_p.S98S|CDHR2_ENST00000506348.1_Silent_p.S98S NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 98 Cadherin 1. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TCACCATCTCCGTGAGCGACC 0.627000 9 49 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23398432 23398432 + Translation_Start_Site SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr14:23398432C>T ENST00000397441.2 - 1 178 c.3G>A c.(1-3)atG>atA p.M1I PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000216350.8_Start_Codon_SNP_p.M1I|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000397440.4_Start_Codon_SNP_p.M1I NM_001039619.1 NP_001034708.1 O14744 ANM5_HUMAN protein arginine methyltransferase 5 0 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TCGGACCCCGCATTCCGCTCG 0.632000 18 97 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15809082 15809082 + Missense_Mutation SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr16:15809082A>T ENST00000338282.6 - 39 5658 c.5552T>A c.(5551-5553)cTg>cAg p.L1851Q MYH11_ENST00000396324.3_Missense_Mutation_p.L1858Q|MYH11_ENST00000300036.5_Missense_Mutation_p.L1851Q|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.L1851Q|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.L1858Q NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1851 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GATTTCCTTCAGCTTCTTGTC 0.592000 T CBFB AML 35 65 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32774938 32774938 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:32774938G>T ENST00000265074.8 + 4 1527 c.1184G>T c.(1183-1185)aGa>aTa p.R395I NPR3_ENST00000415167.2_Missense_Mutation_p.R395I|NPR3_ENST00000434067.2_Missense_Mutation_p.R179I|NPR3_ENST00000415685.2_Missense_Mutation_p.R179I NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 395 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) ACTTGGAACAGAACATTTGAA 0.468000 54 87 1.75667e-42 3.04876e-42 1 1 0 COL5A1 1289 broad.mit.edu 37 9 137726876 137726876 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:137726876G>T ENST00000371817.3 + 65 5610 c.5196G>T c.(5194-5196)cgG>cgT p.R1732R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1732 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCTTCCTGCGGCTGCTGAGCG 0.657000 5 35 1.23904e-05 1.40648e-05 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 8 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698803 111698803 + Missense_Mutation SNP T T C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chrX:111698803T>C ENST00000340433.2 + 1 1077 c.847T>C c.(847-849)Tgc>Cgc p.C283R NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 283 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 GTGCCTCTACTGCAGCCAATC 0.547000 48 22 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10023772 10023772 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr20:10023772G>A ENST00000378380.3 + 3 678 c.349G>A c.(349-351)Gtt>Att p.V117I SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.V117I NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 CTCTGCAGGTGTTTTGTTTTA 0.353000 10 41 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45679420 45679420 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr21:45679420C>T ENST00000270172.3 - 5 727 c.244G>A c.(244-246)Gat>Aat p.D82N DNMT3L_ENST00000418993.1_Missense_Mutation_p.D82N NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 82 ADD. DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) AAGAGGGCATCCAGGAACTTG 0.582000 4 57 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451528 55451528 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:55451528G>T ENST00000588756.1 - 6 1145 c.659C>A c.(658-660)cCc>cAc p.P220H NLRP7_ENST00000328092.5_Missense_Mutation_p.P220H|NLRP7_ENST00000592784.1_Missense_Mutation_p.P220H|NLRP7_ENST00000448121.2_Missense_Mutation_p.P220H|NLRP7_ENST00000590030.1_Missense_Mutation_p.P220H|NLRP7_ENST00000446217.1_Missense_Mutation_p.P248H|NLRP7_ENST00000340844.2_Missense_Mutation_p.P220H Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 220 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AAAACTGCAGGGGCCCATGCG 0.547000 18 80 2.48551e-13 3.62469e-13 1 1 0 ZFYVE20 64145 broad.mit.edu 37 3 15115625 15115625 + Silent SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:15115625T>A ENST00000253699.3 - 14 2632 c.2019A>T c.(2017-2019)gcA>gcT p.A673A ZFYVE20_ENST00000476527.2_Silent_p.A673A NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 673 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TCCCTGCCACTGCTTCCTCCT 0.562000 23 149 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486849 94486849 + Missense_Mutation SNP C C G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:94486849C>G ENST00000375708.3 - 9 2125 c.1927G>C c.(1927-1929)Gcc>Ccc p.A643P ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.A503P NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 643 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TAGTAATCGGCGGCATACACC 0.567000 12 74 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68272204 68272204 + Silent SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr14:68272204G>A ENST00000347230.4 - 7 1287 c.1149C>T c.(1147-1149)gcC>gcT p.A383A ZFYVE26_ENST00000555452.1_Silent_p.A383A NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 383 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCAGCCTCTTGGCTGACTCTA 0.572000 20 67 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1560029 1560029 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr17:1560029C>A ENST00000572621.1 - 34 5797 c.5532G>T c.(5530-5532)gaG>gaT p.E1844D PRPF8_ENST00000304992.6_Missense_Mutation_p.E1844D Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1844 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGGCGGCCACCTCCTCAGCTG 0.512000 12 21 2.61681e-11 3.52264e-11 1 1 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 109 0 0 1 0 0 KIF3A 11127 broad.mit.edu 37 5 132051569 132051569 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:132051569G>T ENST00000378746.4 - 8 1227 c.1009C>A c.(1009-1011)Cgg>Agg p.R337R AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Silent_p.R337R|KIF3A_ENST00000378735.1_Silent_p.R337R NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 337 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding p.R337W(2) endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGGCATACCGTAATGTACTG 0.328000 6 14 8.12818e-05 8.75343e-05 1 1 0 GDF10 2662 broad.mit.edu 37 10 48428922 48428922 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr10:48428922G>T ENST00000224605.2 - 2 1229 c.964C>A c.(964-966)Cag>Aag p.Q322K NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 322 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGCCACAGCTGGTGCTTGTGG 0.716000 5 39 8.12818e-05 8.75343e-05 1 1 0 CDK18 5129 broad.mit.edu 37 1 205499786 205499786 + Missense_Mutation SNP A A G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:205499786A>G ENST00000360066.2 + 15 1644 c.1343A>G c.(1342-1344)cAg>cGg p.Q448R CDK18_ENST00000429964.2_Missense_Mutation_p.Q448R|CDK18_ENST00000506784.1_Missense_Mutation_p.Q478R|CDK18_ENST00000509056.1_3'UTR NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 446 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 AAGGAGATCCAGCTCCAGAAG 0.612000 4 54 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754097 76754097 + Silent SNP G G C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr18:76754097G>C ENST00000536229.3 + 1 2416 c.1707G>C c.(1705-1707)acG>acC p.T569T SALL3_ENST00000537592.2_Silent_p.T702T|SALL3_ENST00000575389.2_Silent_p.T702T Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGACGCACACGGGGGAGCGGC 0.637000 7 31 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108773602 108773602 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:108773602C>A ENST00000232603.5 - 14 1385 c.1303G>T c.(1303-1305)Gtc>Ttc p.V435F MORC1_ENST00000483760.1_Missense_Mutation_p.V435F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 435 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CAGTACTGGACCAAGTACTGT 0.388000 39 69 2.95478e-19 4.56252e-19 1 1 0 NFASC 23114 broad.mit.edu 37 1 204921172 204921172 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:204921172C>A ENST00000367172.4 + 5 471 c.143C>A c.(142-144)gCg>gAg p.A48E NFASC_ENST00000404076.1_Missense_Mutation_p.A42E|NFASC_ENST00000404907.1_Missense_Mutation_p.A42E|NFASC_ENST00000360049.4_Missense_Mutation_p.A42E|NFASC_ENST00000339876.6_Missense_Mutation_p.A48E|NFASC_ENST00000513543.1_Missense_Mutation_p.A42E|NFASC_ENST00000401399.1_Missense_Mutation_p.A48E|NFASC_ENST00000403080.1_Missense_Mutation_p.A48E|NFASC_ENST00000367171.4_Missense_Mutation_p.A48E|NFASC_ENST00000338515.6_Missense_Mutation_p.A48E|NFASC_ENST00000338586.6_Missense_Mutation_p.A48E|NFASC_ENST00000367169.4_Missense_Mutation_p.A48E|NFASC_ENST00000367170.4_Missense_Mutation_p.A48E|NFASC_ENST00000539706.1_Missense_Mutation_p.A42E O94856 NFASC_HUMAN neurofascin 48 Ig-like C2-type 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.A48V(2)|p.A42V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AAGCAGTCAGCGAAGGATCAC 0.577000 17 40 9.16793e-09 1.13921e-08 1 1 0 KCNQ3 3786 broad.mit.edu 37 8 133141656 133141656 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr8:133141656C>A ENST00000388996.4 - 15 2892 c.2472G>T c.(2470-2472)tcG>tcT p.S824S KCNQ3_ENST00000521134.1_Silent_p.S704S|KCNQ3_ENST00000519445.1_Silent_p.S812S NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 824 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCATCCAGCTCGACCCCCCAT 0.622000 44 46 9.39024e-22 1.4939e-21 1 1 0 TRRAP 8295 broad.mit.edu 37 7 98490104 98490104 + Missense_Mutation SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:98490104C>T ENST00000359863.4 + 5 528 c.319C>T c.(319-321)Cgt>Tgt p.R107C TRRAP_ENST00000446306.3_Missense_Mutation_p.R107C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R107C NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 107 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CGAACATCTTCGTCCTCACAC 0.338000 21 87 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201633 71201633 + Nonsense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:71201633G>T ENST00000273936.4 + 1 936 c.877G>T c.(877-879)Gag>Tag p.E293* NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 293 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGAAACTACCGAGGGAGCCAG 0.423000 18 73 4.35082e-09 5.50405e-09 1 1 0 WBSCR17 64409 broad.mit.edu 37 7 70597938 70597938 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:70597938C>A ENST00000333538.5 + 1 784 c.150C>A c.(148-150)aaC>aaA p.N50K NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 50 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGGTGGCCAACCTCAGCGCGC 0.687000 12 55 3.07112e-06 3.5436e-06 1 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160252979 160252979 + Silent SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:160252979G>T ENST00000264431.4 + 9 1709 c.1290G>T c.(1288-1290)ggG>ggT p.G430G NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 430 PDZ. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGAAACGGGGGGATCAGGTAT 0.363000 40 70 2.45108e-15 3.67662e-15 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141215095 141215095 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:141215095G>T ENST00000389484.3 - 61 10722 c.9751C>A c.(9751-9753)Ctg>Atg p.L3251M NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3251 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGTAAATCAGTGAGAGTCTG 0.403000 TSP Lung(27;0.18) 21 131 1.50039e-11 2.05936e-11 1 1 0 ZNF345 25850 broad.mit.edu 37 19 37368087 37368087 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:37368087G>A ENST00000529555.1 + 2 1143 c.355G>A c.(355-357)Gaa>Aaa p.E119K ZNF345_ENST00000420450.1_Missense_Mutation_p.E119K|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E119K Q14585 ZN345_HUMAN zinc finger protein 345 119 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGCCTTTTGAATGTAAAGA 0.428000 8 55 0 0 1 0 0 PRPF19 27339 broad.mit.edu 37 11 60670077 60670077 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr11:60670077G>A ENST00000227524.4 - 5 645 c.440C>T c.(439-441)cCa>cTa p.P147L NM_014502.4 NP_055317.1 Q9UMS4 PRP19_HUMAN pre-mRNA processing factor 19 147 DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 22 TTGGGAACTTGGCACAGCCTG 0.512000 13 49 0 0 1 0 0 DOK7 285489 broad.mit.edu 37 4 3494877 3494877 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:3494877C>T ENST00000340083.5 + 7 1229 c.1164C>T c.(1162-1164)tgC>tgT p.C388C DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Silent_p.C388C NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 388 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TGTGCACCTGCCTGCCCGGGA 0.697000 3 7 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43414735 43414735 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:43414735G>A ENST00000187910.2 - 3 768 c.703C>T c.(703-705)Ctc>Ttc p.L235F PSG6_ENST00000402603.4_Missense_Mutation_p.L235F|PSG6_ENST00000292125.2_Missense_Mutation_p.L235F NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TACTCACGGAGGAGATTCAGG 0.522000 109 262 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1231989 1231989 + Silent SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr4:1231989C>A ENST00000510568.1 - 2 735 c.144G>T c.(142-144)acG>acT p.T48T CTBP1_ENST00000382952.3_Silent_p.T48T|CTBP1_ENST00000290921.6_Silent_p.T59T|CTBP1_ENST00000515690.1_5'UTR Q13363 CTBP1_HUMAN C-terminal binding protein 1 59 Interaction with GLIS2 1 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GGATCTCCTGCGTGGACTGCG 0.682000 14 86 2.31682e-05 2.58794e-05 1 1 0 BRINP3 339479 broad.mit.edu 37 1 190234085 190234085 + Silent SNP C C T rs141418514 TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:190234085C>T ENST00000367462.3 - 4 759 c.528G>A c.(526-528)acG>acA p.T176T RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.T74T NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 176 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCTGATGTAGCGTCTCCAGAG 0.473000 16 100 0 0 1 0 0 UBAP1 51271 broad.mit.edu 37 9 34251520 34251520 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:34251520G>A ENST00000536252.1 + 8 1897 c.1499G>A c.(1498-1500)gGa>gAa p.G500E UBAP1_ENST00000545103.1_Missense_Mutation_p.G564E|UBAP1_ENST00000297661.4_Missense_Mutation_p.G500E|UBAP1_ENST00000379186.4_Missense_Mutation_p.G439E|UBAP1_ENST00000540348.1_Missense_Mutation_p.G500E|UBAP1_ENST00000359544.2_Missense_Mutation_p.G500E|UBAP1_ENST00000543944.1_Missense_Mutation_p.G536E NM_001171203.2 NP_001164674.1 Q9NZ09 UBAP1_HUMAN ubiquitin associated protein 1 500 cytoplasm endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(29;0.00272) GCTCGGGCAGGAGCCAGCTGA 0.557000 7 35 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127704902 127704902 + Missense_Mutation SNP A A T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:127704902A>T ENST00000508053.1 - 22 3195 c.2221T>A c.(2221-2223)Tgc>Agc p.C741S FBN2_ENST00000262464.4_Missense_Mutation_p.C741S|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.C708S P35556 FBN2_HUMAN fibrillin 2 741 TB 3. 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) CATGGCTGGCAGGGTTCTCCA 0.463000 13 49 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25324268 25324268 + RNA SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr15:25324268G>T ENST00000549804.2 + 0 1377 SNORD116-13_ENST00000384408.1_RNA TGGGAACTCTGTACTATCATC 0.433000 33 73 7.83172e-31 1.30529e-30 1 1 0 OR1M1 125963 broad.mit.edu 37 19 9204165 9204165 + Missense_Mutation SNP T T A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:9204165T>A ENST00000429566.3 + 1 311 c.245T>A c.(244-246)cTg>cAg p.L82Q NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTAAGATGCTGGTGAGCCTT 0.522000 16 60 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541210 133541210 + Silent SNP T T C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:133541210T>C ENST00000409261.1 - 14 3547 c.3174A>G c.(3172-3174)caA>caG p.Q1058Q NCKAP5_ENST00000317721.6_Silent_p.Q1058Q|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1058 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTATGTCCCTTTGTGGGGTCC 0.532000 78 81 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140698953 140698953 + Missense_Mutation SNP C C A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:140698953C>A ENST00000313368.5 - 1 1377 c.659G>T c.(658-660)cGg>cTg p.R220L NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 220 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATATCTCCCGAAGCTCATC 0.458000 15 90 2.35188e-11 3.18642e-11 1 1 0 SDCCAG8 10806 broad.mit.edu 37 1 243507521 243507521 + Missense_Mutation SNP G G T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:243507521G>T ENST00000366541.3 + 12 1479 c.1361G>T c.(1360-1362)tGt>tTt p.C454F SDCCAG8_ENST00000343783.6_Missense_Mutation_p.C309F|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.C411F NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 454 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TAACAGGTGTGTGGAGAAATG 0.428000 18 51 7.45023e-12 1.04303e-11 1 1 0 FKBP11 51303 broad.mit.edu 37 12 49318378 49318378 + Silent SNP C C T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:49318378C>T ENST00000550765.1 - 3 647 c.249G>A c.(247-249)ctG>ctA p.L83L CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Silent_p.L83L|AC073610.5_ENST00000537495.1_Intron|FKBP11_ENST00000453172.2_Silent_p.L83L|ARF3_ENST00000398092.4_Intron|FKBP11_ENST00000444214.2_5'UTR NM_016594.2 NP_057678.1 Q9NYL4 FKB11_HUMAN FK506 binding protein 11, 19 kDa 83 PPIase FKBP-type. protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 GTTCTATAACCAGAGGGTCTC 0.527000 OREG0021773 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 43 0 0 1 0 0 USP14 9097 broad.mit.edu 37 18 211166 211166 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr18:211166G>A ENST00000261601.6 + 16 1458 c.1367G>A c.(1366-1368)aGc>aAc p.S456N USP14_ENST00000383589.2_Missense_Mutation_p.S410N|USP14_ENST00000582707.1_Missense_Mutation_p.S421N|USP14_ENST00000400266.3_Missense_Mutation_p.S445N NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 456 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) GACAAAGTCAGCATCGTAACA 0.408000 7 39 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82431848 82431848 + Silent SNP C C G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:82431848C>G ENST00000370728.1 + 14 2757 c.2112C>G c.(2110-2112)gtC>gtG p.V704V LPHN2_ENST00000370725.1_Silent_p.V704V|LPHN2_ENST00000370727.1_Silent_p.V704V|LPHN2_ENST00000359929.3_Silent_p.V691V|LPHN2_ENST00000370715.1_Silent_p.V691V|LPHN2_ENST00000370730.1_Silent_p.V704V|LPHN2_ENST00000271029.4_Silent_p.V704V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.V691V|LPHN2_ENST00000370723.1_Silent_p.V691V|LPHN2_ENST00000335786.5_Silent_p.V704V|LPHN2_ENST00000394879.1_Silent_p.V691V|LPHN2_ENST00000370717.2_Silent_p.V704V|LPHN2_ENST00000370721.1_Silent_p.V629V|LPHN2_ENST00000319517.6_Silent_p.V691V O95490 LPHN2_HUMAN latrophilin 2 704 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CAAATACCGTCAAACAGAACA 0.388000 23 52 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52940508 52940508 + Frame_Shift_Del DEL C C - TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:52940508delC ENST00000371544.3 - 13 2985 c.2723delG c.(2722-2724)gcfs p.G908fs ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.G908fs NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 908 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TCCTACCTTGCCAGAGGTTAA 0.313 7 37 --- --- --- --- CEP350 9857 broad.mit.edu 37 1 180065064 180065067 + Splice_Site DEL AGGT AGGT - TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:180065064_180065067delAGGT ENST00000367607.3 + 35 9336_9337 c.8919_splice c.e35+1 p.2973_splice CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2973 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GTCTACAAACAGGTAGGTGAAATA 0.338 7 27 --- --- --- --- NR5A2 2494 broad.mit.edu 37 1 200090010 200090011 + Frame_Shift_Ins INS - - C TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr1:200090010_200090011insC ENST00000367362.3 + 7 1551_1552 c.1305_1306insC c.(1303-1308)gtcaaafs p.K436fs NR5A2_ENST00000236914.3_Frame_Shift_Ins_p.K390fs|NR5A2_ENST00000544748.1_Frame_Shift_Ins_p.K364fs NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 436 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.A436S(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) AGGAGTTAGTGGCAAAACTTCG 0.426 11 90 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 213878652 213878653 + Frame_Shift_Ins INS - - GA TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr2:213878652_213878653insGA ENST00000457361.1 - 7 886_887 c.718_719insTC c.(718-720)tatfs p.Y240fs IKZF2_ENST00000374327.4_Frame_Shift_Ins_p.Y95fs|IKZF2_ENST00000374319.4_Frame_Shift_Ins_p.Y214fs|IKZF2_ENST00000342002.2_Frame_Shift_Ins_p.Y246fs|IKZF2_ENST00000434687.1_Frame_Shift_Ins_p.Y240fs|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Frame_Shift_Ins_p.Y168fs|IKZF2_ENST00000421754.2_Intron NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ATCTTCCATAGGAGGTACTATA 0.371 27 48 --- --- --- --- CMSS1 84319 broad.mit.edu 37 3 99881242 99881243 + Frame_Shift_Ins INS - - T TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr3:99881242_99881243insT ENST00000421999.2 + 4 467_468 c.321_322insT c.(319-324)cgtggtfs p.G108fs CMSS1_ENST00000489081.1_Frame_Shift_Ins_p.G90fs NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) GCAGCAGACGCTTGGTGATTGA 0.391 37 60 --- --- --- --- ZDHHC11 79844 broad.mit.edu 37 5 840719 840720 + Frame_Shift_Ins INS - - G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr5:840719_840720insG ENST00000283441.8 - 5 1057_1058 c.674_675insC c.(673-675)cgtfs p.R225fs ZDHHC11_ENST00000424784.2_Frame_Shift_Ins_p.R225fs|ZDHHC11_ENST00000511539.1_Frame_Shift_Ins_p.R12fs|ZDHHC11_ENST00000503758.2_5'UTR NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 225 integral to membrane acyltransferase activity|zinc ion binding p.P225P(2) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GCACCTGCACCGGGAACAGGGG 0.584 59 858 --- --- --- --- SND1 27044 broad.mit.edu 37 7 127342520 127342520 + Frame_Shift_Del DEL G G - TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr7:127342520delG ENST00000354725.3 + 6 815 c.621delG c.(619-621)gtfs p.V208fs NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 208 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 ACGGCAGTGTGGTCAGGGCCC 0.493 22 85 --- --- --- --- KIAA2026 158358 broad.mit.edu 37 9 5968617 5968618 + Frame_Shift_Del DEL CT CT - TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr9:5968617_5968618delCT ENST00000399933.3 - 3 1612_1613 c.1613_1614delAG c.(1612-1614)gfs p.E538fs KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.E538fs NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 538 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TATTTTCCTGCTCTTTCTTGAA 0.371 14 84 --- --- --- --- ZWINT 11130 broad.mit.edu 37 10 58118594 58118594 + Frame_Shift_Del DEL C C - TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr10:58118594delC ENST00000373944.3 - 6 633 c.595delG c.(595-597)cafs p.A199fs ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Frame_Shift_Del_p.A199fs|ZWINT_ENST00000318387.2_Frame_Shift_Del_p.A79fs|ZWINT_ENST00000361148.6_Intron O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 199 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 TCCTGTTCTGCCTGCTGCTTC 0.537 33 106 --- --- --- --- CRY1 1407 broad.mit.edu 37 12 107486580 107486580 + Splice_Site DEL A A - TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr12:107486580delA ENST00000008527.5 - 1 1026 c.e1+1 CRY1_ENST00000550633.1_Splice_Site NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 CTTGTGACTCACCGCCACCTG 0.542 OREG0022082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 12 --- --- --- --- HIF3A 64344 broad.mit.edu 37 19 46800336 46800350 + Translation_Start_Site DEL GGCGCTGGGGCTGCA GGCGCTGGGGCTGCA - rs112781848 TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:46800336_46800350delGGCGCTGGGGCTGCA ENST00000377670.4 + 0 34_48 NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GGCGAGCCATGGCGCTGGGGCTGCAGCGCGCAAGG 0.721 7 77 --- --- --- --- POLD1 5424 broad.mit.edu 37 19 50919910 50919910 + Frame_Shift_Del DEL G G - TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx ad3037b7-368c-4f3b-846c-8c7d22ed5029 64ff45a3-4800-4868-923e-783abc7364ed g.chr19:50919910delG ENST00000440232.2 + 24 3050 c.2997delG c.(2995-2997)gtfs p.V999fs POLD1_ENST00000599857.1_Frame_Shift_Del_p.V999fs|POLD1_ENST00000595904.1_Frame_Shift_Del_p.V1025fs NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 999 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGGGCAAGGTGGGCGGCCTCC 0.711 DNA polymerases (catalytic subunits) 2 4 --- --- --- ---