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 B3GALT1 8708 broad.mit.edu 37 2 168726333 168726333 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:168726333C>T ENST00000305861.1 + 2 1135 c.784C>T c.(784-786)Cac>Tac p.H262Y B3GALT1_ENST00000392690.2_Missense_Mutation_p.H262Y|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 262 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 AAGGCTGCTTCACCTTGAAGA 0.473000 6 53 0 0 1 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857708 101857708 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:101857708C>T ENST00000604957.1 + 1 3261 c.639C>T c.(637-639)ccC>ccT p.P213P ARMCX5_ENST00000372742.1_Silent_p.P213P|ARMCX5_ENST00000541409.1_Silent_p.P213P|ARMCX5_ENST00000536530.1_Silent_p.P213P|ARMCX5_ENST00000537008.1_Silent_p.P213P|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.P213P NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 213 binding p.P213P(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 CACACAAACCCACACTTACTA 0.473000 12 111 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152749005 152749005 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152749005G>A ENST00000334371.2 + 1 158 c.158G>A c.(157-159)gGc>gAc p.G53D NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 53 keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGCTGCTGTGGCTCCAGCTCT 0.677000 9 82 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811091 5811091 + Missense_Mutation SNP C C T rs149065055 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:5811091C>T ENST00000381095.3 - 6 2845 c.2218G>A c.(2218-2220)Gat>Aat p.D740N NLGN4X_ENST00000275857.6_Missense_Mutation_p.D740N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D740N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D740N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D760N NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 740 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.D740N(2) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CACTCGTGATCGTGTTCCAGC 0.577000 5 75 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23079465 23079465 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:23079465G>A ENST00000219689.7 - 16 3960 c.3961C>T c.(3961-3963)Ccc>Tcc p.P1321S USP31_ENST00000567975.1_Missense_Mutation_p.P614S NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1321 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGAGACGAGGGAACTCCAGAG 0.507000 8 112 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949935 7949935 + Missense_Mutation SNP A A C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:7949935A>C ENST00000309838.2 - 1 274 c.275T>G c.(274-276)aTt>aGt p.I92S NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCCAAAAGAAATTGTAGTTTT 0.428000 15 123 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354403 42354403 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:42354403C>T ENST00000269945.3 + 7 830 c.779C>T c.(778-780)cCc>cTc p.P260L DMRTC2_ENST00000596827.1_Missense_Mutation_p.P260L NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 260 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 ATACTCCAGCCCTGTGGCACC 0.532000 24 244 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677815 25677815 + Missense_Mutation SNP C C G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:25677815C>G ENST00000382051.3 + 13 1567 c.1517C>G c.(1516-1518)cCg>cGg p.P506R SLC34A2_ENST00000503434.1_Missense_Mutation_p.P505R|SLC34A2_ENST00000504570.1_Missense_Mutation_p.P505R NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 506 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TACCCGATCCCGTTCACTCGC 0.567000 T ROS1 NSCLC 4 60 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649919 232649919 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:232649919G>A ENST00000366630.1 - 2 1525 c.1167C>T c.(1165-1167)tcC>tcT p.S389S SIPA1L2_ENST00000262861.4_Silent_p.S389S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 389 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGTTCTCTTTGGAGTTGAGGT 0.537000 17 174 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71103303 71103303 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:71103303G>A ENST00000393567.2 - 14 1991 c.1841C>T c.(1840-1842)tCa>tTa p.S614L HYDIN_ENST00000448691.1_Missense_Mutation_p.S614L|HYDIN_ENST00000448089.2_Missense_Mutation_p.S614L|HYDIN_ENST00000393550.2_Missense_Mutation_p.S629L|HYDIN_ENST00000321489.5_Missense_Mutation_p.S614L|HYDIN_ENST00000288168.10_Missense_Mutation_p.S631L|HYDIN_ENST00000541601.1_Missense_Mutation_p.S631L|HYDIN_ENST00000538248.1_Missense_Mutation_p.S641L|HYDIN_ENST00000543639.1_5'UTR NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 614 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTCACAATATGAAATGCTTTT 0.428000 6 80 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098851 48098851 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:48098851C>T ENST00000371741.4 - 1 333 c.167G>A c.(166-168)cGg>cAg p.R56Q NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 56 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTTGCCCAGCCGCGTGCGGGG 0.677000 3 12 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960908 73960908 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:73960908G>A ENST00000373468.1 - 3 4135 c.3484C>T c.(3484-3486)Cca>Tca p.P1162S KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1162S Q5QGS0 K2022_HUMAN KIAA2022 1162 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGACCAGATGGATCATTAAAT 0.373000 5 95 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135445712 135445712 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:135445712C>T ENST00000394143.1 + 13 7645 c.7354C>T c.(7354-7356)Cct>Tct p.P2452S GPR112_ENST00000370652.1_Missense_Mutation_p.P2452S|GPR112_ENST00000287534.4_Missense_Mutation_p.P2250S|GPR112_ENST00000412101.1_Missense_Mutation_p.P2247S|GPR112_ENST00000394141.1_Missense_Mutation_p.P2247S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2452 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCAAGAACTTCCTGACAAGAT 0.348000 6 57 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858028 9858028 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:9858028C>T ENST00000396573.2 - 14 3682 c.3373G>A c.(3373-3375)Gag>Aag p.E1125K GRIN2A_ENST00000535259.1_Missense_Mutation_p.E968K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1125K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1125K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1125K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1125 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1125*(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACCAGGCTCCTTCTCACCA 0.507000 8 137 0 0 1 0 0 RFC2 5982 broad.mit.edu 37 7 73668615 73668615 + Silent SNP G G A rs11538014 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:73668615G>A ENST00000055077.3 - 1 159 c.99C>T c.(97-99)caC>caT p.H33H RFC2_ENST00000352131.3_Silent_p.H33H NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 33 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 GCAGTTCGTAGTGGCCGGCGC 0.697000 3 16 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50547094 50547094 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:50547094C>T ENST00000262794.5 + 5 647 c.564C>T c.(562-564)atC>atT p.I188I MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.I188I|MOV10L1_ENST00000540615.1_Silent_p.I168I|MOV10L1_ENST00000545383.1_Silent_p.I188I NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 188 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGGTCTGCATCTCTAGCCTCT 0.562000 6 109 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179495059 179495059 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179495059G>A ENST00000589042.1 - 239 44414 c.44190C>T c.(44188-44190)tcC>tcT p.S14730S TTN_ENST00000342992.6_Silent_p.S12162S|TTN_ENST00000342175.6_Silent_p.S5857S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.S5790S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.S5665S|TTN_ENST00000591111.1_Silent_p.S13089S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13089 Fibronectin type-III 6. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAAACAAGGGAGTGTATTT 0.393000 4 31 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176852083 176852083 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:176852083G>A ENST00000367654.2 - 20 3311 c.3298C>T c.(3298-3300)Cct>Tct p.P1100S ASTN1_ENST00000361833.2_Missense_Mutation_p.P1092S|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1092S|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1092S O14525 ASTN1_HUMAN astrotactin 1 1100 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ATTGCACAAGGAGACTTTGCT 0.493000 11 65 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189068456 189068456 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:189068456C>T ENST00000332517.3 + 6 1477 c.1337C>T c.(1336-1338)tCc>tTc p.S446F TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 446 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCTATCTTTTCCCCCTGCCTC 0.562000 11 95 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34189858 34189858 + Silent SNP G G A rs5773426 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:34189858G>A ENST00000373381.4 - 19 3116 c.2940C>T c.(2938-2940)ttC>ttT p.F980F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 940 CUB 6. 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) AGAAGTCAGGGAACCCTGGCG 0.532000 3 29 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96728497 96728497 + Splice_Site SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:96728497C>T ENST00000261211.3 - 2 721 c.118_splice c.e2+1 p.E40_splice CDK17_ENST00000542666.1_Intron|CDK17_ENST00000543119.2_Splice_Site_p.E40_splice NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 40 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AAATATTTACCATTATCCTTG 0.353000 3 25 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178560518 178560518 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:178560518G>A ENST00000432997.1 + 5 853 c.501G>A c.(499-501)agG>agA p.R167R RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Silent_p.R167R|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.R167R|KCNMB2_ENST00000420517.2_Silent_p.R167R|RP11-385J1.2_ENST00000437488.1_RNA NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 167 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) AAAACTTCAGGAAGTATCAAC 0.393000 4 49 0 0 1 0 0 RPL13A 23521 broad.mit.edu 37 19 49993748 49993748 + Silent SNP C C T rs45550435 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:49993748C>T ENST00000391857.4 + 4 247 c.171C>T c.(169-171)ttC>ttT p.F57F RPL13A_ENST00000477613.2_3'UTR NM_001270491.1|NM_012423.3 NP_001257420.1|NP_036555.1 P40429 RL13A_HUMAN ribosomal protein L13a 57 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) ACCTGGCTTTCCTCCGCAAGC 0.632000 4 49 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67985083 67985083 + Silent SNP G G T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:67985083G>T ENST00000422611.2 - 8 1302 c.1263C>A c.(1261-1263)tcC>tcA p.S421S SLC12A4_ENST00000316341.3_Silent_p.S419S|SLC12A4_ENST00000572037.1_Silent_p.S371S|SLC12A4_ENST00000576616.1_Silent_p.S419S|SLC12A4_ENST00000537830.2_Silent_p.S413S|SLC12A4_ENST00000338335.3_Silent_p.S419S|SLC12A4_ENST00000541864.2_Silent_p.S388S NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 419 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCACGGTGAAGGATGTGGCGA 0.632000 9 110 4.68919e-08 4.73221e-08 1 1 0 ZDHHC3 51304 broad.mit.edu 37 3 44986679 44986679 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:44986679C>T ENST00000296127.3 - 3 685 c.412G>A c.(412-414)Gac>Aac p.D138N ZDHHC3_ENST00000342790.4_Missense_Mutation_p.D172N|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.D138N NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 138 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) TGGGCTCGGTCGGGCTTGATG 0.577000 8 99 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49575823 49575823 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:49575823C>T ENST00000244051.1 + 1 461 c.444C>T c.(442-444)ctC>ctT p.L148L NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 148 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 TGCGCCGCCTCAATTCGGCAG 0.647000 7 84 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56464962 56464962 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:56464962G>A ENST00000370754.5 - 45 11505 c.11506C>T c.(11506-11508)Ctt>Ttt p.L3836F DST_ENST00000421834.2_Missense_Mutation_p.L1570F|DST_ENST00000244364.6_Missense_Mutation_p.L1244F|DST_ENST00000370788.2_Missense_Mutation_p.L1570F|DST_ENST00000361203.3_Missense_Mutation_p.L3656F|DST_ENST00000312431.6_Missense_Mutation_p.L3656F|DST_ENST00000370769.4_Missense_Mutation_p.L3658F|DST_ENST00000446842.2_Missense_Mutation_p.L3332F Q03001 DYST_HUMAN dystonin 3656 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTTTGGGTAAGAAGATCACAT 0.408000 7 94 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73068887 73068887 + RNA SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:73068887G>A ENST00000429829.1 - 0 3701 NR_001564.2 GTAACTAACAGAACTATGGAT 0.403000 4 34 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228487816 228487816 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:228487816G>A ENST00000570156.2 + 51 13782 c.13708G>A c.(13708-13710)Gag>Aag p.E4570K RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.E1260K|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3613 Fibronectin type-III 3. 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) ATGTGAGCAGGAGAGGACCTC 0.547000 6 55 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169814479 169814479 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:169814479G>A ENST00000263817.6 - 19 2462 c.2338C>T c.(2338-2340)Ctt>Ttt p.L780F NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 780 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTTACCCCAAGAATCTGGCTG 0.423000 3 29 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178359121 178359121 + Silent SNP C C T rs115468106 by1000genomes TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:178359121C>T ENST00000361362.2 + 5 1337 c.807C>T c.(805-807)ccC>ccT p.P269P ZFP2_ENST00000523286.1_Silent_p.P269P|ZFP2_ENST00000520301.1_Silent_p.P269P|ZFP2_ENST00000503510.2_Silent_p.P269P NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAGAAAAACCCTATGAGTGTA 0.378000 6 72 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1212511 1212511 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:1212511C>T ENST00000304460.10 + 4 631 c.575C>T c.(574-576)tCc>tTc p.S192F NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 192 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACTCGGGCTCCATCCAGTGG 0.622000 6 105 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42711369 42711369 + Missense_Mutation SNP G G A rs45590635 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:42711369G>A ENST00000230882.4 + 7 869 c.679G>A c.(679-681)Gaa>Aaa p.E227K GHR_ENST00000357703.3_Missense_Mutation_p.E205K|GHR_ENST00000537449.1_Missense_Mutation_p.E40K NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 227 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TAAGGAATATGAAGTGCGTGT 0.398000 6 120 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62393437 62393437 + Silent SNP T T G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:62393437T>G ENST00000371158.2 + 27 3720 c.3606T>G c.(3604-3606)ccT>ccG p.P1202P INADL_ENST00000316485.6_Silent_p.P1202P NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1202 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TGAAACTTCCTCCTCCTTATA 0.418000 4 62 0 0 1 0 0 STARD4 134429 broad.mit.edu 37 5 110835779 110835779 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:110835779C>T ENST00000296632.3 - 6 557 c.423G>A c.(421-423)aaG>aaA p.K141K STARD4_ENST00000512160.1_3'UTR NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 141 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) ATTCTGGTCTCTTTTCATCCC 0.338000 3 45 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220789319 220789319 + Silent SNP T T C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:220789319T>C ENST00000402574.1 + 7 1131 c.129T>C c.(127-129)atT>atC p.I43I MARK1_ENST00000366918.4_Silent_p.I156I|MARK1_ENST00000366917.4_Silent_p.I178I NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 178 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) AAAAGTACATTGTTCACCGTG 0.254000 8 44 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838546 155838546 + Missense_Mutation SNP C C T rs150921882 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:155838546C>T ENST00000490337.1 + 1 210 c.146C>T c.(145-147)cCc>cTc p.P49L KCNAB1_ENST00000389636.5_Missense_Mutation_p.P49L NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 49 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGCCTTAGTCCCTCAGGGGAA 0.537000 4 56 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45798933 45798933 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr21:45798933G>A ENST00000397928.1 + 8 1513 c.1068G>A c.(1066-1068)tcG>tcA p.S356S TRPM2_ENST00000300482.5_Silent_p.S356S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.S356S|TRPM2_ENST00000397932.2_Silent_p.S356S NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 356 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TGGAGGGCTCGGGCCGCGTGG 0.637000 4 66 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480359 102480359 + Missense_Mutation SNP C C G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:102480359C>G ENST00000324219.4 + 17 2017 c.1943C>G c.(1942-1944)tCt>tGt p.S648C MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S543C|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000425019.1_Intron O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 582 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGTGACCCTTCTCCCAAATTT 0.507000 25 308 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44954020 44954020 + Nonsense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:44954020G>A ENST00000290015.2 + 4 1063 c.1010G>A c.(1009-1011)tGg>tAg p.W337* WNT9B_ENST00000393461.2_Intron NM_003396.1 NP_003387.1 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 337 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) CAGGTGCAGTGGTGCTGCTAC 0.652000 4 25 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50592470 50592470 + Nonsense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:50592470C>T ENST00000442544.2 + 7 1811 c.1195C>T c.(1195-1197)Caa>Taa p.Q399* DCC_ENST00000581580.1_Nonsense_Mutation_p.Q54*|DCC_ENST00000412726.1_Nonsense_Mutation_p.Q247*|DCC_ENST00000580146.1_3'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 399 Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGGCTTTTATCAATGTGTGGC 0.443000 4 62 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101767251 101767251 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:101767251G>A ENST00000375001.3 + 9 1695 c.1272G>A c.(1270-1272)ggG>ggA p.G424G NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 424 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GCATGCCTGGGGAAGTGGAGG 0.617000 7 85 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20060745 20060745 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:20060745C>T ENST00000379651.3 - 7 777 c.759G>A c.(757-759)gtG>gtA p.V253V MAP7D2_ENST00000543767.1_Silent_p.V138V|MAP7D2_ENST00000452324.3_Silent_p.V201V|MAP7D2_ENST00000443379.3_Silent_p.V208V|MAP7D2_ENST00000379643.5_Silent_p.V294V NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 253 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 TCACCTTCTCCACCTGTAGGG 0.483000 8 158 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5204836 5204836 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:5204836C>T ENST00000334314.3 - 2 317 c.241G>A c.(241-243)Gaa>Aaa p.E81K aldo-keto reductase family 1, member C-like 1 cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TAGAATATTTCCTCTCTCTTG 0.413000 8 125 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525494 176525494 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:176525494G>A ENST00000367662.3 + 2 1200 c.36G>A c.(34-36)gcG>gcA p.A12A PAPPA2_ENST00000367661.3_Silent_p.A12A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 12 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TAAGCCTGGCGATTTTGGCTG 0.512000 9 130 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10388874 10388874 + Silent SNP C C T rs144205813 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:10388874C>T ENST00000328655.3 + 3 457 c.417C>T c.(415-417)gtC>gtT p.V139V PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.V139V NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 139 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TAAAGGAGGTCGCCAGCATCA 0.517000 11 184 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69046490 69046490 + Missense_Mutation SNP G G C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:69046490G>C ENST00000288368.4 + 32 4240 c.3963G>C c.(3961-3963)caG>caC p.Q1321H NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1321 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCACTTTCAGTCACTTCTGT 0.428000 5 57 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738746 176738746 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:176738746G>A ENST00000367662.3 + 16 5491 c.4327G>A c.(4327-4329)Gaa>Aaa p.E1443K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1443 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E1443K(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTTCTAGAAGGAAATTCTGCT 0.453000 8 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179569660 179569660 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179569660C>T ENST00000589042.1 - 104 29862 c.29638G>A c.(29638-29640)Gaa>Aaa p.E9880K TTN_ENST00000342992.6_Missense_Mutation_p.E8636K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9563K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9563 Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTCCTTTTCGTCCCTCTCT 0.328000 8 112 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100285685 100285685 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:100285685G>A ENST00000275732.5 - 2 1293 c.84C>T c.(82-84)tcC>tcT p.S28S GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 28 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCATGGCAGGGGACGGGGGTG 0.632000 16 68 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40651074 40651074 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:40651074C>T ENST00000298910.7 + 12 1371 c.1313C>T c.(1312-1314)tCa>tTa p.S438L LRRK2_ENST00000343742.2_Missense_Mutation_p.S438L NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 438 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATACTGTTATCAAAAGGAATA 0.274000 3 42 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133098868 133098868 + Missense_Mutation SNP A A G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:133098868A>G ENST00000515826.1 + 3 436 c.313A>G c.(313-315)Acc>Gcc p.T105A TMEM108_ENST00000321871.6_Missense_Mutation_p.T105A|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.T105A Q6UXF1 TM108_HUMAN transmembrane protein 108 105 Pro-rich. integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGCGACAGTAACCGCCCCCCA 0.667000 6 63 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655948 40655948 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:40655948G>A ENST00000406785.1 - 2 1662 c.1473C>T c.(1471-1473)ttC>ttT p.F491F SLC8A1_ENST00000403092.1_Silent_p.F491F|SLC8A1_ENST00000406391.2_Silent_p.F491F|SLC8A1_ENST00000405269.1_Silent_p.F491F|SLC8A1_ENST00000402441.1_Silent_p.F491F|SLC8A1_ENST00000408028.2_Silent_p.F491F|SLC8A1_ENST00000405901.3_Silent_p.F491F|SLC8A1_ENST00000542024.1_Silent_p.F491F|SLC8A1_ENST00000542756.1_Silent_p.F491F|SLC8A1_ENST00000332839.4_Silent_p.F491F P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 491 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GATGCACAAGGAAATTTTCAT 0.418000 4 48 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53071652 53071652 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:53071652G>A ENST00000276480.7 - 15 2295 c.1612C>T c.(1612-1614)Cca>Tca p.P538S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 538 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AATTTCACTGGATTTGGAAAA 0.413000 4 63 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322528 134322528 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:134322528C>T ENST00000508956.1 - 10 1873 c.1816G>A c.(1816-1818)Gga>Aga p.G606R KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Missense_Mutation_p.G627R Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 0 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 CTGCAGCTTCCCTCCCAGTAG 0.517000 4 90 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51640337 51640337 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:51640337G>A ENST00000375695.2 + 6 1777 c.1624G>A c.(1624-1626)Gac>Aac p.D542N MAGED1_ENST00000326587.7_Missense_Mutation_p.D486N|MAGED1_ENST00000375722.1_Missense_Mutation_p.D486N|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.D486N NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 486 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GATGCTTAAGGACTACACAAA 0.428000 Multiple Myeloma(10;0.10) 5 70 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755051 140755051 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140755051G>A ENST00000517434.1 + 1 1401 c.1401G>A c.(1399-1401)agG>agA p.R467R PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACCCCAGGGGTGCCTCCA 0.557000 12 190 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5448398 5448398 + Splice_Site SNP A A C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:5448398A>C ENST00000282908.5 + 7 984 c.e7-1 STK32B_ENST00000512636.1_Splice_Site|STK32B_ENST00000510398.1_Splice_Site|STK32B_ENST00000508728.1_Splice_Site NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 TCTCGTTGGCAGCTCCAGAAG 0.522000 5 35 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6851090 6851090 + Missense_Mutation SNP G G A rs139451898 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:6851090G>A ENST00000419673.2 + 3 341 c.124G>A c.(124-126)Gag>Aag p.E42K ARHGAP28_ENST00000531294.1_Missense_Mutation_p.E42K|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.E149K|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.E201K|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.E24K|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.E42K|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.E201K|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.E42K NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 0 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GGAAGAAAGAGAGCTTCCAAG 0.448000 3 43 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 68962368 68962368 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:68962368C>T ENST00000295381.3 + 1 456 c.37C>T c.(37-39)Ctg>Ttg p.L13L ARHGAP25_ENST00000544262.1_Intron|ARHGAP25_ENST00000467265.1_Silent_p.L13L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Silent_p.L13L NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 13 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 GGATTTCAACCTGAAAGTGGA 0.458000 5 120 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848200 54848200 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:54848200G>A ENST00000291759.4 - 6 1223 c.1167C>T c.(1165-1167)caC>caT p.H389H AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 389 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) AGGTCCCCGCGTGGGCTGAGG 0.627000 9 169 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28986090 28986090 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:28986090G>A ENST00000359747.4 + 12 1716 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E563K NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 563 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGATTTTATGAAATCCCAAT 0.438000 8 55 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40773126 40773126 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:40773126C>T ENST00000372748.3 - 19 1096 c.1000G>A c.(1000-1002)Ggc>Agc p.G334S NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 334 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) ACCGCTAGGCCCTGGTGGCCT 0.592000 3 16 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102965042 102965042 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:102965042C>T ENST00000504592.1 + 15 2320 c.1902C>T c.(1900-1902)ttC>ttT p.F634F BANK1_ENST00000428908.1_Silent_p.F516F|BANK1_ENST00000322953.4_Silent_p.F649F|BANK1_ENST00000444316.2_Silent_p.F619F|BANK1_ENST00000508653.1_Silent_p.F516F Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 649 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) ATGACAAGTTCTGTGGTCTTC 0.308000 10 101 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 55 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38639364 38639364 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:38639364G>A ENST00000413689.1 - 14 2311 c.2118C>T c.(2116-2118)atC>atT p.I706I SCN5A_ENST00000443581.1_Silent_p.I706I|SCN5A_ENST00000425664.1_Silent_p.I706I|SCN5A_ENST00000414099.2_Silent_p.I706I|SCN5A_ENST00000423572.2_Silent_p.I706I|SCN5A_ENST00000455624.2_Silent_p.I706I|SCN5A_ENST00000451551.2_Silent_p.I706I|SCN5A_ENST00000333535.4_Silent_p.I706I|SCN5A_ENST00000450102.2_Silent_p.I706I|SCN5A_ENST00000449557.2_Silent_p.I706I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 706 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTCCCTGCTTGATGGACATCC 0.557000 7 80 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43639630 43639630 + Silent SNP G G T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:43639630G>T ENST00000378069.4 - 10 1185 c.1038C>A c.(1036-1038)gcC>gcA p.A346A MAOB_ENST00000536181.1_Silent_p.A330A|MAOB_ENST00000538942.1_Silent_p.A330A NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 346 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TGGCTTTGTGGGCCAGGATAA 0.423000 3 26 1.024e-07 1.03024e-07 1 1 0 MECOM 2122 broad.mit.edu 37 3 168802737 168802737 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:168802737G>A ENST00000464456.1 - 15 4289 c.3089C>T c.(3088-3090)gCg>gTg p.A1030V MECOM_ENST00000494292.1_Missense_Mutation_p.A1218V|MECOM_ENST00000468789.1_Missense_Mutation_p.A1039V|MECOM_ENST00000433243.2_Missense_Mutation_p.A1040V|MECOM_ENST00000392736.3_Missense_Mutation_p.A1039V|MECOM_ENST00000472280.1_Missense_Mutation_p.A1040V|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000264674.3_Missense_Mutation_p.A1104V NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGATTCCGCCGCAGCCCTGGC 0.517000 4 113 0 0 1 0 0 FAM19A3 284467 broad.mit.edu 37 1 113266642 113266642 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:113266642C>T ENST00000369630.3 + 4 558 c.341C>T c.(340-342)tCg>tTg p.S114L FAM19A3_ENST00000361886.3_Silent_p.I91I Q7Z5A8 F19A3_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A3 0 extracellular region lung(4)|ovary(1) 5 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCCTCCATCGTCCTGCAGA 0.627000 6 37 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55925732 55925732 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:55925732C>T ENST00000244728.5 - 26 2706 c.2309G>A c.(2308-2310)gGg>gAg p.G770E COL21A1_ENST00000535941.1_Missense_Mutation_p.G770E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.G767E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G170E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 770 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACCTGGATCCCCAGGTTGCCC 0.517000 4 29 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820550 43820550 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:43820550G>A ENST00000382031.1 + 5 7624 c.7593G>A c.(7591-7593)atG>atA p.M2531I MAP1A_ENST00000399453.1_Missense_Mutation_p.M2293I|MAP1A_ENST00000300231.5_Missense_Mutation_p.M2293I P78559 MAP1A_HUMAN microtubule-associated protein 1A 2293 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACCCAGGAATGGAACCAGCTG 0.617000 3 34 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104176434 104176434 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:104176434C>T ENST00000020673.5 - 2 888 c.362G>A c.(361-363)gGg>gAg p.G121E PSD_ENST00000406432.1_Missense_Mutation_p.G121E NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 121 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ACTCAAGCCCCCTGGAGCAGG 0.657000 10 50 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962881 94962881 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:94962881C>T ENST00000341228.2 - 4 1529 c.734G>A c.(733-735)gGc>gAc p.G245D SERPINA12_ENST00000556881.1_Missense_Mutation_p.G245D NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 245 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TTGGTATATGCCACTACGGAA 0.438000 9 147 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668999 53668999 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:53668999G>A ENST00000600412.1 - 2 664 c.549C>T c.(547-549)aaC>aaT p.N183N ZNF665_ENST00000396424.3_Silent_p.N248N Q9H7R5 ZN665_HUMAN zinc finger protein 665 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) GACCTGCAAGGTTTGAAGGTT 0.393000 9 80 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133945853 133945853 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:133945853G>A ENST00000220616.4 + 24 4904 c.4864G>A c.(4864-4866)Gag>Aag p.E1622K TG_ENST00000542445.1_Missense_Mutation_p.E56K|TG_ENST00000377869.1_Missense_Mutation_p.E1565K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1622 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GTCCACGACGGAGCCAGAGAT 0.572000 8 135 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 54 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25272552 25272552 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:25272552G>A ENST00000400358.4 + 13 1357 c.1300G>A c.(1300-1302)Gat>Aat p.D434N SGSM1_ENST00000400359.4_Missense_Mutation_p.D489N NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 434 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGTGCCCCAGGATCTGATGGA 0.567000 10 147 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820551 43820551 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:43820551G>A ENST00000382031.1 + 5 7625 c.7594G>A c.(7594-7596)Gaa>Aaa p.E2532K MAP1A_ENST00000399453.1_Missense_Mutation_p.E2294K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E2294K P78559 MAP1A_HUMAN microtubule-associated protein 1A 2294 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCCAGGAATGGAACCAGCTGC 0.612000 3 32 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147715 129147715 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:129147715C>T ENST00000540052.1 + 3 1011 c.967C>T c.(967-969)Cct>Tct p.P323S BCORL1_ENST00000218147.7_Missense_Mutation_p.P323S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P323S|BCORL1_ENST00000303743.5_Missense_Mutation_p.P323S NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 323 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 tcctgtgcccccttcagctcc 0.672000 3 15 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128627979 128627979 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:128627979C>T ENST00000335251.5 + 12 2229 c.2126C>T c.(2125-2127)cCt>cTt p.P709L NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 709 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 AAGCCTAGTCCTTCCTGTAGT 0.458000 14 149 0 0 1 0 0 CDRT1 374286 broad.mit.edu 37 17 15517307 15517307 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:15517307C>T ENST00000455584.2 - 9 1684 c.1641G>A c.(1639-1641)atG>atA p.M547I CDRT1_ENST00000395906.3_Missense_Mutation_p.M237I ACAGCCTATTCATTTCGGATA 0.488000 4 103 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568021 223568021 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:223568021G>A ENST00000366875.3 + 1 1307 c.1204G>A c.(1204-1206)Gtg>Atg p.V402M NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 402 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GAGGAGGCTGGTGGAAGCCTG 0.622000 3 26 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71684502 71684502 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:71684502G>A ENST00000373573.3 - 8 1158 c.817C>T c.(817-819)Ccc>Tcc p.P273S HDAC8_ENST00000429103.2_Missense_Mutation_p.P78S|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Missense_Mutation_p.P182S NM_018486.2 NP_060956.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 273 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding p.P273T(1) breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) GAGCACATGGGATCCCCAGCT 0.433000 10 104 0 0 1 0 0 SLC50A1 55974 broad.mit.edu 37 1 155110692 155110692 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:155110692C>T ENST00000368404.4 + 6 663 c.601C>T c.(601-603)Cgc>Tgc p.R201C SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Missense_Mutation_p.R136C|SLC50A1_ENST00000368401.5_Missense_Mutation_p.R146C|SLC50A1_ENST00000303343.8_Missense_Mutation_p.R147C NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 201 Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 CAGCTTTATCCGCTTCTGGCT 0.532000 5 48 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31814777 31814777 + Silent SNP G G A rs139539413 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:31814777G>A ENST00000375454.3 + 6 873 c.663G>A c.(661-663)gtG>gtA p.V221V BPIFA3_ENST00000375452.3_Silent_p.V185V|BPIFA3_ENST00000490499.1_3'UTR NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 221 extracellular region lipid binding p.V221V(1) AGCTGGATGTGAAACTGTTGA 0.542000 5 82 0 0 1 0 0 GSR 2936 broad.mit.edu 37 8 30560740 30560740 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:30560740G>A ENST00000221130.5 - 5 600 c.510C>T c.(508-510)atC>atT p.I170I GSR_ENST00000546342.1_Silent_p.I170I|GSR_ENST00000537535.1_Silent_p.I170I|GSR_ENST00000541648.1_Silent_p.I170I|GSR_ENST00000414019.1_Silent_p.I127I NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 170 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) CATGGCCACGGATGATTTCTA 0.458000 6 74 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138712839 138712839 + Missense_Mutation SNP A A C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:138712839A>C ENST00000389532.4 - 11 3732 c.3668T>G c.(3667-3669)gTg>gGg p.V1223G CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.V945G|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.V1234G NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1223 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) AGGCTCCTCCACGGGGACGCT 0.597000 3 51 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510886 48510886 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:48510886C>T ENST00000446524.1 + 1 618 c.542C>T c.(541-543)cCc>cTc p.P181L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181L(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GACATGTATCCCTTATTGAAA 0.443000 4 121 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233899636 233899636 + Nonsense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:233899636C>T ENST00000233840.3 + 2 1012 c.1012C>T c.(1012-1014)Cag>Tag p.Q338* NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 338 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CTCAGACCTCCAGAGCATGGG 0.607000 7 139 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44130997 44130997 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:44130997G>A ENST00000222374.2 - 4 486 c.438C>T c.(436-438)ctC>ctT p.L146L NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 146 Ig-like C2-type 1. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) ACCGCGGAACGAGGCAGCTGA 0.682000 7 77 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567238 136567238 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:136567238G>A ENST00000264162.2 - 8 2689 c.2679C>T c.(2677-2679)ttC>ttT p.F893F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 893 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AATCTCTTTCGAACTTGGGTT 0.522000 6 118 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64055334 64055334 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:64055334C>T ENST00000539851.1 + 4 1016 c.549C>T c.(547-549)ttC>ttT p.F183F GPR137_ENST00000411458.1_Silent_p.F241F|GPR137_ENST00000438980.2_Silent_p.F183F|GPR137_ENST00000313074.3_Silent_p.F183F|GPR137_ENST00000377702.4_Silent_p.F183F NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 183 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 ACTCCCTGTTCGTCATCTGCG 0.662000 4 56 0 0 1 0 0 RFC2 5982 broad.mit.edu 37 7 73668616 73668616 + Missense_Mutation SNP T T A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:73668616T>A ENST00000055077.3 - 1 158 c.98A>T c.(97-99)cAc>cTc p.H33L RFC2_ENST00000352131.3_Missense_Mutation_p.H33L NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 33 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 CAGTTCGTAGTGGCCGGCGCT 0.692000 3 15 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228473847 228473847 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:228473847C>T ENST00000570156.2 + 39 10434 c.10360C>T c.(10360-10362)Cgt>Tgt p.R3454C OBSCN_ENST00000359599.6_Missense_Mutation_p.R1872C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R144C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R144C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3025C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3025C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2489 Ig-like 35. 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) GGCCACCTTCCGTTGCCGGAT 0.632000 3 17 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894466 166894466 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:166894466C>T ENST00000423058.2 - 15 2783 c.2766G>A c.(2764-2766)aaG>aaA p.K922K SCN1A_ENST00000303395.4_Silent_p.K922K|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.K894K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.K911K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 922 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CACTGGCGATCTTGCAGACAC 0.498000 14 106 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256684 69256684 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:69256684G>A ENST00000439696.2 - 2 884 c.583C>T c.(583-585)Cgt>Tgt p.R195C ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R195C NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 195 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGGCGGGGACGGTCAGCGGAG 0.692000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 58 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568020 223568020 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:223568020G>A ENST00000366875.3 + 1 1306 c.1203G>A c.(1201-1203)ctG>ctA p.L401L NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 401 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGAGGAGGCTGGTGGAAGCCT 0.627000 3 26 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432922 55432922 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:55432922G>A ENST00000314259.3 + 1 309 c.280G>A c.(280-282)Ggc>Agc p.G94S NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTCTCTCAAAGGCTGCCTCAC 0.517000 5 65 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179742709 179742709 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179742709G>A ENST00000420890.2 - 12 1998 c.1881C>T c.(1879-1881)ttC>ttT p.F627F CCDC141_ENST00000295723.5_Silent_p.F52F|CCDC141_ENST00000409284.1_Silent_p.F627F NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 52 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TTAAATTAAGGAACTCAAGCC 0.368000 4 87 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124748122 124748122 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:124748122G>A ENST00000311127.4 - 2 594 c.527C>T c.(526-528)tCa>tTa p.S176L NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 176 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TGTTCTACTTGAAGAGCCGCT 0.502000 4 17 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 624555 624555 + Missense_Mutation SNP G G T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:624555G>T ENST00000321878.5 + 2 640 c.481G>T c.(481-483)Ggc>Tgc p.G161C PIGQ_ENST00000470411.2_Missense_Mutation_p.G161C|PIGQ_ENST00000409527.2_Missense_Mutation_p.G161C|PIGQ_ENST00000026218.5_Missense_Mutation_p.G161C NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 161 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) CAGCACGGGGGGCCTGGCTGC 0.662000 5 4 0.014758 0.014758 1 1 0 XDH 7498 broad.mit.edu 37 2 31558829 31558829 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:31558829C>T ENST00000379416.3 - 36 4045 c.3997G>A c.(3997-3999)Gtc>Atc p.V1333I NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1333 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCTCTTTAGACCCTCACAGAC 0.498000 6 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179416811 179416811 + Nonsense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179416811C>T ENST00000589042.1 - 335 91040 c.90816G>A c.(90814-90816)tgG>tgA p.W30272* TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W27704*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21399*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21332*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21207*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W28631*|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28631 Fibronectin type-III 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACCATCTTCCAGTTAGTTT 0.423000 9 91 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40702789 40702789 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:40702789C>T ENST00000372771.4 + 8 2442 c.2415C>T c.(2413-2415)ttC>ttT p.F805F NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 805 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CATGCAACTTCCTTGGCTGTA 0.353000 6 49 0 0 1 0 0 AKR1C4 1109 broad.mit.edu 37 10 5248279 5248279 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:5248279C>T ENST00000380448.1 + 7 742 c.489C>T c.(487-489)atC>atT p.I163I AKR1C4_ENST00000263126.1_Silent_p.I163I P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 163 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) CCAAGTCCATCGGGGTGTCAA 0.507000 7 73 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86200549 86200549 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:86200549C>T ENST00000370571.2 - 59 5247 c.4881G>A c.(4879-4881)agG>agA p.R1627R COL24A1_ENST00000436319.1_Silent_p.R1606R NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1627 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGCTTGTCCACCTTGGGGTGT 0.443000 9 96 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46276031 46276031 + Missense_Mutation SNP G G A rs146235035 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:46276031G>A ENST00000372004.3 + 18 3683 c.3467G>A c.(3466-3468)cGa>cAa p.R1156Q NCOA3_ENST00000341724.6_Missense_Mutation_p.R1086Q|NCOA3_ENST00000371997.3_Missense_Mutation_p.R1151Q|NCOA3_ENST00000371998.3_Missense_Mutation_p.R1156Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1156 Acetyltransferase. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 ATGCACCCACGAGCCAACATC 0.493000 6 52 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71871297 71871297 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:71871297C>T ENST00000373255.4 + 9 1241 c.977C>T c.(976-978)gCg>gTg p.A326V AIFM2_ENST00000373248.1_Intron NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 326 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 AAACAGACTGCGGCCCAGGTG 0.527000 4 103 0 0 1 0 0 ALPL 249 broad.mit.edu 37 1 21900198 21900198 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:21900198G>A ENST00000374840.3 + 9 1153 c.903G>A c.(901-903)agG>agA p.R301R ALPL_ENST00000539907.1_Silent_p.R224R|ALPL_ENST00000374830.1_Intron|ALPL_ENST00000540617.1_Silent_p.R246R|ALPL_ENST00000425315.2_Silent_p.R301R|ALPL_ENST00000374832.1_Silent_p.R301R NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 301 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) AGCTGAACAGGAACAACGTGA 0.597000 3 22 0 0 1 0 0 SPRY3 10251 broad.mit.edu 37 X 155003856 155003856 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:155003856C>T ENST00000302805.2 + 2 754 c.323C>T c.(322-324)tCa>tTa p.S108L NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 108 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCCTCACCTTCAGGCCAATCC 0.552000 6 98 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53990500 53990500 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:53990500G>A ENST00000312233.2 - 5 1584 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 340 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 ACGTGCTTGCGGAGGGAGCTG 0.632000 5 111 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24696257 24696257 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:24696257G>A ENST00000374409.1 - 7 898 c.644C>T c.(643-645)aCc>aTc p.T215I STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.T168I|STPG1_ENST00000337248.4_Missense_Mutation_p.T215I|STPG1_ENST00000003583.8_Missense_Mutation_p.T168I NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TCCACGGTTGGTTTTTGATTT 0.403000 5 77 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48452942 48452942 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:48452942C>T ENST00000393271.2 + 2 455 c.373C>T c.(373-375)Cat>Tat p.H125Y EME1_ENST00000511648.2_Missense_Mutation_p.H125Y|EME1_ENST00000338165.4_Missense_Mutation_p.H125Y NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 125 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TGTTTTGGATCATCAAAATAA 0.448000 Direct reversal of damage;Homologous recombination 5 85 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110901981 110901981 + Splice_Site SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:110901981G>A ENST00000265171.5 + 15 2666 c.e15-1 EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TTCTCTACTAGGAGCAGATCC 0.408000 7 70 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072845 9072845 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9072845C>T ENST00000397910.4 - 3 14804 c.14601G>A c.(14599-14601)atG>atA p.M4867I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4869 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 TGGTGTCTTCCATGGTGGAGG 0.458000 16 130 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148769143 148769143 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:148769143G>A ENST00000316286.9 - 3 735 c.463C>T c.(463-465)Cgg>Tgg p.R155W ZNF786_ENST00000491431.1_Missense_Mutation_p.R241W|ZNF786_ENST00000451334.3_Missense_Mutation_p.R204W Q8N393 ZN786_HUMAN zinc finger protein 786 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACGCCACACCGGAAGTGCCTC 0.652000 3 23 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259363 43259363 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:43259363C>T ENST00000404209.4 - 4 861 c.765G>A c.(763-765)aaG>aaA p.K255K PSG8_ENST00000406636.3_Silent_p.K133K|PSG8_ENST00000401467.2_Silent_p.K162K|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Silent_p.K255K NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 255 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TTAAGACATCCTTATTCTCCC 0.483000 12 228 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579905 179579905 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:179579905G>A ENST00000589042.1 - 90 26232 c.26008C>T c.(26008-26010)Ccc>Tcc p.P8670S TTN_ENST00000342992.6_Missense_Mutation_p.P7426S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8353S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8353 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAAATGGGGGAGTGCCCTGA 0.428000 14 164 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746680 95746680 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:95746680C>T ENST00000311106.3 - 8 1130 c.893G>A c.(892-894)gGg>gAg p.G298E PCSK1_ENST00000508626.1_Missense_Mutation_p.G251E|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 298 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGACCCCTTCCCCTGTCTCCC 0.478000 12 90 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35583956 35583956 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:35583956C>T ENST00000287272.2 + 9 1403 c.1383C>T c.(1381-1383)atC>atT p.I461I UNC5D_ENST00000420357.1_Silent_p.I463I|UNC5D_ENST00000453357.2_Silent_p.I525I|UNC5D_ENST00000404895.2_Silent_p.I530I|UNC5D_ENST00000416672.1_Silent_p.I535I|UNC5D_ENST00000449677.1_Silent_p.I106I Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 530 apoptosis|axon guidance integral to membrane receptor activity p.I525I(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGCCCTACATCCAAAATCTGT 0.473000 7 98 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070090 9070090 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9070090C>T ENST00000397910.4 - 3 17559 c.17356G>A c.(17356-17358)Gac>Aac p.D5786N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5788 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 GTCCTGGTGTCCCTTAATCCA 0.473000 6 81 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119887018 119887018 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:119887018G>A ENST00000464295.1 - 10 1751 c.1306C>T c.(1306-1308)Cct>Tct p.P436S GPR156_ENST00000461057.1_Missense_Mutation_p.P432S|GPR156_ENST00000315843.3_Missense_Mutation_p.P436S Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 436 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GCCATGCCAGGATCATTCTGA 0.617000 4 26 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960344 73960344 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:73960344C>T ENST00000373468.1 - 3 4699 c.4048G>A c.(4048-4050)Gat>Aat p.D1350N KIAA2022_ENST00000055682.5_Missense_Mutation_p.D1350N Q5QGS0 K2022_HUMAN KIAA2022 1350 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ATGTTGGGATCCCCATGGTGC 0.453000 4 69 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128489239 128489239 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:128489239C>T ENST00000325888.8 + 29 5193 c.4932C>T c.(4930-4932)tcC>tcT p.S1644S FLNC_ENST00000346177.6_Silent_p.S1644S NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1644 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TTCCAGTGTCCATTGGAGGCC 0.657000 4 47 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012134 29012134 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:29012134G>A ENST00000377175.1 - 1 883 c.819C>T c.(817-819)ttC>ttT p.F273F NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 AGAGGGTGAGGAACTTGCCCT 0.443000 5 49 0 0 1 0 0 HAMP 57817 broad.mit.edu 37 19 35775748 35775748 + Nonsense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:35775748G>A ENST00000598398.1 + 3 443 c.147G>A c.(145-147)tgG>tgA p.W49* HAMP_ENST00000222304.3_Nonsense_Mutation_p.W49* NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 49 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGGCCAGCTGGATGGTGAGCG 0.617000 5 68 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9927997 9927997 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:9927997G>A ENST00000396573.2 - 9 2051 c.1742C>T c.(1741-1743)cCt>cTt p.P581L GRIN2A_ENST00000535259.1_Missense_Mutation_p.P424L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P581L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P581L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P581L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P581L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 581 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTATCCAACAGGGCTGAAGTA 0.388000 9 127 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2581424 2581424 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:2581424G>A ENST00000340611.4 - 8 1318 c.1062C>T c.(1060-1062)ctC>ctT p.L354L NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 354 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 TGGAGGCCAGGAGTGTGTCCA 0.687000 3 28 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153697401 153697401 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:153697401C>T ENST00000369682.3 + 26 4612 c.4437C>T c.(4435-4437)acC>acT p.T1479T NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1479 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCCTCAGACCCTTCACTGCG 0.622000 7 61 0 0 1 0 0 SLC50A1 55974 broad.mit.edu 37 1 155110691 155110691 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:155110691C>T ENST00000368404.4 + 6 662 c.600C>T c.(598-600)atC>atT p.I200I SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Silent_p.I135I|SLC50A1_ENST00000368401.5_Silent_p.I145I|SLC50A1_ENST00000303343.8_Silent_p.I146I NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 200 Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 CCAGCTTTATCCGCTTCTGGC 0.532000 6 48 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174110 51174110 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:51174110G>A ENST00000440970.1 - 2 2163 c.1732C>T c.(1732-1734)Cct>Tct p.P578S SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P675S NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 675 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P675S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCCCCAAAAGGAAACTTGGCC 0.582000 8 103 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16877088 16877088 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:16877088C>T ENST00000377833.4 - 64 10352 c.10287G>A c.(10285-10287)caG>caA p.Q3429Q NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3429 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGTGTGGTTCTGGGGGGCTG 0.453000 5 57 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159170629 159170629 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:159170629G>A ENST00000368125.4 + 9 1271 c.1114G>A c.(1114-1116)Gat>Aat p.D372N CADM3_ENST00000368124.4_Missense_Mutation_p.D406N|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 372 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGGCTCCGACGATGCTCCAGA 0.572000 6 83 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942294 24942294 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:24942294G>A ENST00000289968.6 - 19 2395 c.2326C>T c.(2326-2328)Cct>Tct p.P776S ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P698S NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 776 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AGGGTCTGAGGAGCTGGCAGA 0.607000 4 113 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83402023 83402023 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:83402023C>T ENST00000262752.2 - 5 391 c.384G>A c.(382-384)gtG>gtA p.V128V RPS6KA6_ENST00000543399.1_Silent_p.V128V NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 128 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GATTTACTTCCACCAGTATAT 0.284000 7 63 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887447 25887447 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:25887447G>A ENST00000376351.3 + 11 3251 c.2892G>A c.(2890-2892)gcG>gcA p.A964A GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 964 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAAATCCTGCGGAGGAGCCAA 0.463000 6 117 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38936403 38936403 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:38936403C>T ENST00000302328.3 - 15 2654 c.2456G>A c.(2455-2457)aGa>aAa p.R819K SCN11A_ENST00000444237.2_Missense_Mutation_p.R819K|SCN11A_ENST00000450244.1_Missense_Mutation_p.R819K|SCN11A_ENST00000456224.3_Missense_Mutation_p.R819K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 819 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTTTCCATTTCTTTCCTCATT 0.448000 7 55 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161128522 161128522 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:161128522C>T ENST00000523217.1 + 9 1317 c.1075C>T c.(1075-1077)Cat>Tat p.H359Y GABRA6_ENST00000274545.5_Missense_Mutation_p.H369Y NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 369 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.H369Y(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 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) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCCAAATATCATCTGAAGAA 0.378000 TCGA Ovarian(5;0.080) 4 79 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409843 121409843 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:121409843G>A ENST00000393667.3 - 14 8478 c.8368C>T c.(8368-8370)Ctt>Ttt p.L2790F GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2785F NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2785 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GTTTCAGAAAGAAGAGCATCT 0.418000 5 65 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212295800 212295800 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:212295800C>T ENST00000342788.4 - 21 2823 c.2513G>A c.(2512-2514)cGa>cAa p.R838Q ERBB4_ENST00000436443.1_Missense_Mutation_p.R838Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.R828Q NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 838 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATGAACGAGTCGTCTTTCTTC 0.393000 TSP Lung(8;0.080) 7 88 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072559 108072559 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:108072559G>A ENST00000357759.5 + 4 764 c.350G>A c.(349-351)gGa>gAa p.G117E HHLA2_ENST00000489514.2_Missense_Mutation_p.G117E|HHLA2_ENST00000467562.1_Missense_Mutation_p.G53E|HHLA2_ENST00000467761.1_Missense_Mutation_p.G117E|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117E NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 117 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CTGGACGAAGGAATTTACACC 0.403000 4 40 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77271293 77271293 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:77271293C>T ENST00000341514.6 + 12 2696 c.2541C>T c.(2539-2541)atC>atT p.I847I ATP7A_ENST00000343533.5_Silent_p.I769I|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 847 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GTGGAGATATCATTAAAGTAG 0.398000 11 134 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282971 152282971 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152282971C>T ENST00000368799.1 - 3 4426 c.4391G>A c.(4390-4392)gGa>gAa p.G1464E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1464 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTGTCTTCCTCCAGTGCT 0.567000 Ichthyosis 35 246 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229838 87229838 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:87229838C>T ENST00000297524.3 - 3 1143 c.1040G>A c.(1039-1041)gGa>gAa p.G347E SLC7A13_ENST00000419776.2_Missense_Mutation_p.G338E NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 347 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TGCAAGGGATCCCAAAGTGAC 0.343000 8 91 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067233 9067233 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9067233C>T ENST00000397910.4 - 3 20416 c.20213G>A c.(20212-20214)cGa>cAa p.R6738Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6740 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 AGGACCTGTTCGAGTGATGAT 0.502000 24 215 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171251205 171251205 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:171251205G>A ENST00000354841.4 + 6 1047 c.916G>A c.(916-918)Gta>Ata p.V306I FMO1_ENST00000367750.3_Missense_Mutation_p.V306I|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.V243I Q01740 FMO1_HUMAN flavin containing monooxygenase 1 306 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATAAAAGAGGTAAAGGAAAA 0.408000 6 36 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433930 69433930 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:69433930C>T ENST00000317746.2 - 1 315 c.273G>A c.(271-273)atG>atA p.M91I NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 91 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 CGAACATTTTCATAAAAAAAT 0.274000 6 31 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106236025 106236025 + RNA SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:106236025G>A ENST00000390551.2 - 0 778 TCTCGATGGGGGCTGGGAGGG 0.607000 12 184 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52535602 52535602 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:52535602G>A ENST00000216286.5 - 1 110 c.111C>T c.(109-111)ttC>ttT p.F37F NID2_ENST00000541773.1_Intron NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 37 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCCCGTGTGGGAAGAGCTCGT 0.667000 7 52 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51293268 51293268 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:51293268C>T ENST00000261842.5 + 20 3247 c.3141C>T c.(3139-3141)tcC>tcT p.S1047S AP4E1_ENST00000560508.1_Silent_p.S972S|AP4E1_ENST00000561397.1_3'UTR NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 1047 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TCTGGTTATCCTTCGCAAATG 0.318000 4 81 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990442 63990442 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:63990442C>T ENST00000370658.5 - 5 626 c.593G>A c.(592-594)cGa>cAa p.R198Q LGSN_ENST00000370657.4_Silent_p.T338T NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 0 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TCCCAGTGATCGTGAGCTGCT 0.488000 5 74 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383212 152383212 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152383212C>T ENST00000271835.3 - 3 408 c.346G>A c.(346-348)Gga>Aga p.G116R RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 116 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTTCTCTGTCCTTCGCCCAGC 0.617000 17 350 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121726307 121726307 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:121726307C>T ENST00000452319.1 + 6 721 c.661C>T c.(661-663)Ccg>Tcg p.P221S GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P221S P10070 GLI2_HUMAN GLI family zinc finger 2 221 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTTCTCCAGCCCGCGGGTGAC 0.647000 9 86 0 0 1 0 0 PLSCR5 389158 broad.mit.edu 37 3 146307569 146307569 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:146307569C>T ENST00000443512.1 - 6 1651 c.648G>A c.(646-648)ggG>ggA p.G216G PLSCR5_ENST00000492200.1_Silent_p.G216G|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Silent_p.G204G NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 216 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 TTGAAATCTTCCCAATTGTAA 0.333000 6 77 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301039 110301039 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:110301039G>A ENST00000369805.3 - 8 848 c.619C>T c.(619-621)Cca>Tca p.P207S EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P206S|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P206S NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 206 Pro-rich. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGGGGCCTTGGGGATGGTGGG 0.597000 13 158 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71503934 71503934 + Missense_Mutation SNP A A G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:71503934A>G ENST00000265382.3 + 7 661 c.356A>G c.(355-357)aAc>aGc p.N119S PIP5K1B_ENST00000541509.1_Missense_Mutation_p.N119S NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 119 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding p.N119S(1) breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GAACTGTCTAACCCTGGAGCC 0.388000 6 95 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155212168 155212168 + Missense_Mutation SNP T T C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:155212168T>C ENST00000460012.1 - 16 2300 c.1943A>G c.(1942-1944)aAc>aGc p.N648S PLCH1_ENST00000494598.1_Missense_Mutation_p.N666S|PLCH1_ENST00000414191.1_Missense_Mutation_p.N648S|PLCH1_ENST00000447496.2_Missense_Mutation_p.N666S|PLCH1_ENST00000340059.7_Missense_Mutation_p.N666S|PLCH1_ENST00000334686.6_Missense_Mutation_p.N648S Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 666 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGGGTTGAAGTTACTGGAATC 0.468000 4 35 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153272 105153272 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:105153272G>A ENST00000428173.2 + 13 1945 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K NRK_ENST00000243300.9_Missense_Mutation_p.E547K Q7Z2Y5 NRK_HUMAN Nik related kinase 547 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CCAGGTGCCTGAACAAGAGCT 0.582000 HNSCC(51;0.14) 3 27 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136277544 136277544 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:136277544G>A ENST00000371942.3 - 4 984 c.785C>T c.(784-786)gCc>gTc p.A262V REXO4_ENST00000371935.2_Intron|REXO4_ENST00000478037.1_5'UTR NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 262 Exonuclease. nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) CACACGGGCGGCCATGCTCTC 0.547000 11 161 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245397 46245397 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:46245397G>A ENST00000296140.3 - 2 533 c.408C>T c.(406-408)gtC>gtT p.V136V CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 136 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ACACGGCGTGGACGATGGCCA 0.517000 4 53 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921606 130921606 + Missense_Mutation SNP G G C rs148090124 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:130921606G>C ENST00000261655.4 - 10 1999 c.1836C>G c.(1834-1836)gaC>gaG p.D612E RIMBP2_ENST00000535703.1_Missense_Mutation_p.D520E|RIMBP2_ENST00000536002.1_Missense_Mutation_p.D520E NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 612 Pro-rich. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCAGGTGCTCGTCTTTGGTTT 0.667000 3 17 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603426 111603426 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:111603426G>A ENST00000431670.2 + 2 913 c.502G>A c.(502-504)Gaa>Aaa p.E168K PHLDB2_ENST00000478922.1_Missense_Mutation_p.E168K|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E168K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E168K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E195K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E168K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E168K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 168 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGGAGGGCTGGAAGGTCGGAA 0.547000 5 62 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189061021 189061021 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:189061021G>A ENST00000332517.3 + 1 449 c.309G>A c.(307-309)aaG>aaA p.K103K NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 103 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCACTGCCAAGGCGCTCTCCG 0.647000 4 37 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:41962602G>C ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 6 50 0 0 1 0 0 UNC119B 84747 broad.mit.edu 37 12 121157743 121157743 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:121157743C>T ENST00000344651.4 + 5 704 c.664C>T c.(664-666)Cct>Tct p.P222S NM_001080533.1 NP_001074002.1 A6NIH7 U119B_HUMAN unc-119 homolog B (C. elegans) 222 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATTGAAAATCCTTACGAGAC 0.443000 7 52 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188318 152188318 + Silent SNP G G C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:152188318G>C ENST00000368801.2 - 3 5862 c.5787C>G c.(5785-5787)ggC>ggG p.G1929G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1929 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGACGGGAGCCAGACCCAT 0.577000 17 893 0 0 1 0 0 MCOLN2 255231 broad.mit.edu 37 1 85422156 85422156 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:85422156G>A ENST00000370608.3 - 4 590 c.523C>T c.(523-525)Cct>Tct p.P175S MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.P147S NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 175 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TCATTAGAAGGAAACATGGTC 0.398000 11 120 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457483 124457483 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:124457483G>A ENST00000329446.4 - 3 805 c.774C>T c.(772-774)taC>taT p.Y258Y NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 258 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) CATTTCCATGGTATGTTAAAC 0.383000 5 75 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230695492 230695492 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:230695492G>A ENST00000283943.5 - 6 1368 c.1190C>T c.(1189-1191)tCc>tTc p.S397F TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.S445F|TRIP12_ENST00000389045.3_Missense_Mutation_p.S100F NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 397 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TCCCATCTCGGAATCATCTGA 0.448000 5 52 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137713982 137713982 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:137713982C>T ENST00000371817.3 + 59 5008 c.4594C>T c.(4594-4596)Ccc>Tcc p.P1532S NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1532 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCCTCCTGGGCCCCCTGGCCT 0.612000 6 91 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53071651 53071651 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:53071651G>A ENST00000276480.7 - 15 2296 c.1613C>T c.(1612-1614)cCa>cTa p.P538L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 538 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AAATTTCACTGGATTTGGAAA 0.418000 4 62 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41309749 41309749 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:41309749C>T ENST00000373086.3 + 4 568 c.542C>T c.(541-543)cCc>cTc p.P181L NCR2_ENST00000373089.5_Intron|NCR2_ENST00000373083.4_Intron NM_001199509.1 NP_001186438.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 174 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CCGTCCTCTCCCCTTCCTGTC 0.662000 5 81 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24006813 24006813 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:24006813G>A ENST00000328046.8 - 4 1295 c.1040C>T c.(1039-1041)tCc>tTc p.S347F NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 347 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 GAATACTTTGGAAGAAGCATG 0.488000 13 132 0 0 1 0 0 KIF12 113220 broad.mit.edu 37 9 116856657 116856657 + Nonsense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:116856657G>A ENST00000374118.3 - 9 1021 c.784C>T c.(784-786)Cag>Tag p.Q262* KIF12_ENST00000473174.1_5'UTR NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 395 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 TGGTCCAGCTGGAACTGCAGG 0.602000 8 92 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157387990 157387990 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:157387990C>T ENST00000389413.3 - 16 2452 c.2349G>A c.(2347-2349)agG>agA p.R783R PTPRN2_ENST00000389418.4_Silent_p.R812R|PTPRN2_ENST00000409483.1_Silent_p.R774R|PTPRN2_ENST00000389416.4_Silent_p.R795R|PTPRN2_ENST00000404321.2_Silent_p.R835R NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 812 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R812R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGCGGGGTTCCTCGGGTCGT 0.532000 9 51 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99663266 99663266 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:99663266C>T ENST00000373034.4 - 1 2005 c.330G>A c.(328-330)atG>atA p.M110I PCDH19_ENST00000255531.7_Missense_Mutation_p.M110I|PCDH19_ENST00000420881.2_Missense_Mutation_p.M110I NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 110 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGCAGATTTCCATTGAGCTGG 0.577000 4 87 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34646038 34646038 + Missense_Mutation SNP T T C TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:34646038T>C ENST00000537011.1 + 5 1422 c.1040T>C c.(1039-1041)cTa>cCa p.L347P NUTM1_ENST00000438749.3_Missense_Mutation_p.L337P|NUTM1_ENST00000333756.4_Missense_Mutation_p.L319P NUT midline carcinoma, family member 1 CTTGATCCTCTAGGGCCCCTG 0.542000 4 75 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921515 12921515 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:12921515G>A ENST00000240189.2 + 4 1393 c.1306G>A c.(1306-1308)Gag>Aag p.E436K NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 436 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTTCGGGCTGAGCTGATGTG 0.552000 10 88 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713800 142713800 + RNA SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:142713800C>T ENST00000369381.2 - 0 805 GTGCATATTTCCTGTCTGAGT 0.274000 5 54 0 0 1 0 0 NCR2 9436 broad.mit.edu 37 6 41309748 41309748 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:41309748C>T ENST00000373086.3 + 4 567 c.541C>T c.(541-543)Ccc>Tcc p.P181S NCR2_ENST00000373089.5_Intron|NCR2_ENST00000373083.4_Intron NM_001199509.1 NP_001186438.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 174 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) CCCGTCCTCTCCCCTTCCTGT 0.662000 5 80 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80043929 80043929 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:80043929C>T ENST00000341700.6 - 5 1130 c.617G>A c.(616-618)cGa>cAa p.R206Q GNA14_ENST00000464095.1_5'UTR NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 206 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TCTTTCCGATCGTTGGCCACC 0.453000 13 156 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557675 210557675 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:210557675G>A ENST00000360351.4 + 7 1287 c.781G>A c.(781-783)Gaa>Aaa p.E261K MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E257K|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 261 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AACTCCAAAAGAACAAAAGGA 0.498000 8 63 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891856 44891856 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:44891856C>T ENST00000330997.4 - 4 615 c.551G>A c.(550-552)aGc>aAc p.S184N CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S184N|ZNF285_ENST00000591679.1_Missense_Mutation_p.S191N NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CCAACTGAGGCTGTCATCATG 0.453000 9 89 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361551 105361551 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:105361551G>A ENST00000297581.2 + 2 820 c.771G>A c.(769-771)agG>agA p.R257R DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.R257R NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 257 osteoclast differentiation cell surface|integral to membrane|plasma membrane TTGATGAAAGGGAGAGACATC 0.473000 6 75 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178418435 178418435 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:178418435C>T ENST00000231188.5 - 3 1025 c.847G>A c.(847-849)Gat>Aat p.D283N GRM6_ENST00000517717.1_Missense_Mutation_p.D283N NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 283 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CTGATGTCATCCTCATTGGCA 0.592000 12 167 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891407 18891407 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:18891407C>T ENST00000317658.3 + 1 363 c.205C>T c.(205-207)Cca>Tca p.P69S NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 69 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) CGATGGAAATCCAGTACTCTT 0.423000 5 62 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35853227 35853227 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:35853227C>T ENST00000377988.2 + 12 2344 c.1056C>T c.(1054-1056)ttC>ttT p.F352F TMEM8B_ENST00000377991.4_Silent_p.F352F NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 352 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 CCAGTCTCTTCGCCCTGGGGA 0.612000 12 131 0 0 1 0 0 PDZD3 79849 broad.mit.edu 37 11 119056848 119056848 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:119056848C>T ENST00000355547.5 + 3 107 c.92C>T c.(91-93)tCc>tTc p.S31F PDZD3_ENST00000531114.1_5'UTR|PDZD3_ENST00000525131.1_5'UTR|PDZD3_ENST00000322712.4_Missense_Mutation_p.S31F NM_001168468.1 NP_001161940.1 Q86UT5 NHRF4_HUMAN PDZ domain containing 3 0 cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CCTGTCCTCTCCCTGGCCGAA 0.582000 5 85 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537752 55537752 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:55537752G>A ENST00000220676.1 + 4 1458 c.1310G>A c.(1309-1311)gGa>gAa p.G437E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 437 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATCATCCAGGGAACTCAAGAC 0.438000 4 83 0 0 1 0 0 DNAJC1 64215 broad.mit.edu 37 10 22045684 22045684 + Splice_Site SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:22045684C>T ENST00000376980.3 - 12 1887 c.1596_splice c.e12-1 p.E533_splice NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 533 SANT 2. negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) ATACAGTCTTCCTGTAGGAAG 0.443000 4 52 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607504 84607504 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:84607504C>T ENST00000344803.2 + 4 2166 c.2119C>T c.(2119-2121)Cat>Tat p.H707Y NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CCGCAGAATCCATGAGTCTCT 0.483000 4 66 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57738925 57738925 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:57738925G>A ENST00000360716.3 + 7 1058 c.837G>A c.(835-837)agG>agA p.R279R CCDC135_ENST00000336825.8_Silent_p.R214R|CCDC135_ENST00000394337.4_Silent_p.R279R Q8IY82 CC135_HUMAN coiled-coil domain containing 135 279 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 AGCGGCTGAGGGAGGAGGAGG 0.577000 5 29 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596905 39596905 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:39596905C>T ENST00000246646.3 - 1 268 c.269G>A c.(268-270)gGa>gAa p.G90E NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 90 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) CCCACAGATTCCAATGTTGCC 0.607000 6 74 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53570448 53570448 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:53570448G>A ENST00000025008.5 - 15 2464 c.1941C>T c.(1939-1941)tcC>tcT p.S647S RB1CC1_ENST00000435644.2_Silent_p.S647S|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.S647S NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 647 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAGACTGTGGGGATGTCTGAC 0.433000 6 39 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542839 55542839 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:55542839C>T ENST00000220676.1 + 4 6545 c.6397C>T c.(6397-6399)Ctt>Ttt p.L2133F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 2133 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGGTGAAAATCTTTTCATTTG 0.323000 3 36 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612140 16612140 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:16612140G>A ENST00000443444.2 + 5 909 c.769G>A c.(769-771)Gat>Aat p.D257N CCDC144A_ENST00000360524.8_Missense_Mutation_p.D257N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D256N|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D257N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D257N A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 257 AATGGCTAAGGATTGCGATAG 0.383000 5 59 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123843076 123843076 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:123843076C>T ENST00000369005.1 + 4 1401 c.1061C>T c.(1060-1062)gCc>gTc p.A354V TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A354V|TACC2_ENST00000453444.2_Missense_Mutation_p.A354V|TACC2_ENST00000515273.1_Missense_Mutation_p.A354V|TACC2_ENST00000334433.3_Missense_Mutation_p.A354V|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 354 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCAAGTCCTGCCCTGGTGCCA 0.617000 10 58 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135630985 135630985 + Missense_Mutation SNP C C A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:135630985C>A ENST00000370634.3 + 3 622 c.452C>A c.(451-453)cCc>cAc p.P151H NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CATCCCTTCCCCGCTCGGCAC 0.622000 12 162 9.31168e-06 9.33998e-06 1 1 0 LRRC15 131578 broad.mit.edu 37 3 194081289 194081289 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:194081289C>T ENST00000347624.3 - 2 569 c.484G>A c.(484-486)Gaa>Aaa p.E162K LRRC15_ENST00000439944.2_Missense_Mutation_p.E168K|LRRC15_ENST00000428839.1_Missense_Mutation_p.E168K NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 162 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GGGATGTATTCCAGGTGGTTG 0.572000 15 149 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868132 20868132 + Missense_Mutation SNP C C T rs150378278 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:20868132C>T ENST00000381552.1 + 6 957 c.589C>T c.(589-591)Cgt>Tgt p.R197C SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R197C|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.R79C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R197C Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 197 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.R197C(3) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CAATCTTCTTCGTGGAATAGG 0.413000 8 128 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40853291 40853291 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:40853291G>A ENST00000254691.5 + 3 2056 c.1857G>A c.(1855-1857)agG>agA p.R619R CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 619 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GGGATAGAAGGAAGAACATGG 0.532000 11 126 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171073016 171073016 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:171073016C>T ENST00000367755.4 + 3 334 c.223C>T c.(223-225)Ccc>Tcc p.P75S FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Missense_Mutation_p.P55S|FMO3_ENST00000392085.2_Missense_Mutation_p.P75S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 75 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCCCATTTCCCGATGACTT 0.423000 4 66 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731262 21731262 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:21731262C>T ENST00000584755.1 + 2 961 c.564C>T c.(562-564)atC>atT p.I188I UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AAGAAGGCATCCCCCCGATCA 0.537000 4 50 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38822825 38822825 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:38822825G>A ENST00000303592.3 - 2 1571 c.1313C>T c.(1312-1314)tCc>tTc p.S438F RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 438 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) CCTGCGGTAGGAGATGTTGTC 0.672000 12 130 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059723 9059723 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9059723G>A ENST00000397910.4 - 3 27926 c.27723C>T c.(27721-27723)gtC>gtT p.V9241V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9243 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCAGCTAGGACAGAGGAAG 0.458000 8 75 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022107 120022107 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:120022107G>A ENST00000379551.2 + 3 906 c.549G>A c.(547-549)cgG>cgA p.R183R PRR16_ENST00000446965.1_Silent_p.R136R|PRR16_ENST00000505123.1_Silent_p.R136R|PRR16_ENST00000407149.2_Silent_p.R206R NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 206 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AACGAGTTCGGTTTAATGAAA 0.478000 5 44 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065210 23065210 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:23065210G>A ENST00000246006.4 - 1 1767 c.1620C>T c.(1618-1620)tcC>tcT p.S540S NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 540 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGACGCCTGGGGACCCACTGG 0.647000 7 72 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713770 23713770 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:23713770C>T ENST00000256797.4 - 10 1334 c.1166G>A c.(1165-1167)aGc>aAc p.S389N ERN2_ENST00000457008.2_Missense_Mutation_p.S341N NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 341 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AACAGCAGTGCTGGGTGAGCC 0.577000 7 134 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718593 103718593 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr13:103718593C>T ENST00000245312.3 - 1 603 c.7G>A c.(7-9)Gat>Aat p.D3N NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 3 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CTGTTCGGATCATTCATTGCT 0.507000 7 67 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102901185 102901185 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:102901185C>T ENST00000359520.7 + 9 2257 c.2031C>T c.(2029-2031)ccC>ccT p.P677P TECPR2_ENST00000558678.1_Silent_p.P677P NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 677 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CCGTGGAGCCCAGCCAAGAGC 0.577000 3 33 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113699951 113699951 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:113699951G>A ENST00000003302.4 - 10 1095 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S USP28_ENST00000545540.1_Missense_Mutation_p.P218S|USP28_ENST00000537706.1_Missense_Mutation_p.P343S|USP28_ENST00000544967.1_Missense_Mutation_p.P51S|USP28_ENST00000260188.5_Missense_Mutation_p.P343S NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 343 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TGATCGGAGGGAAGAAGCTCA 0.493000 4 52 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104121053 104121053 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:104121053C>T ENST00000388887.2 + 47 5064 c.4860C>T c.(4858-4860)ttC>ttT p.F1620F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1620 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.F1620F(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGAGCATTTCGTGAAAGATC 0.512000 10 251 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622241 41622241 + Missense_Mutation SNP G G A rs115815874 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:41622241G>A ENST00000331105.2 + 2 220 c.148G>A c.(148-150)Gac>Aac p.D50N NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 50 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 TTGCTCCCAAGACATGCTGAC 0.567000 13 223 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901064 123901064 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:123901064C>T ENST00000431524.1 + 1 768 c.735C>T c.(733-735)atC>atT p.I245I NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I245I(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCCACTGTATCGTGGTCCTTT 0.537000 7 68 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444108 15444108 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:15444108C>T ENST00000295297.4 + 3 835 c.576C>T c.(574-576)ttC>ttT p.F192F C1QTNF7_ENST00000429690.1_Silent_p.F185F|C1QTNF7_ENST00000444304.2_Silent_p.F185F NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 185 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CAGGGAAGTTCATCTGTGCTT 0.438000 15 250 0 0 1 0 0 NKAP 79576 broad.mit.edu 37 X 119077539 119077539 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:119077539C>T ENST00000371410.3 - 1 196 c.30G>A c.(28-30)ccG>ccA p.P10P NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 10 Ser-rich. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 CCTCCCTATCCGGGCTGCGTG 0.701000 8 46 0 0 1 0 0 SYT6 148281 broad.mit.edu 37 1 114682439 114682439 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:114682439C>T ENST00000393296.1 - 2 387 c.310G>A c.(310-312)Gaa>Aaa p.E104K SYT6_ENST00000369547.1_Missense_Mutation_p.E19K Q5T7P8 SYT6_HUMAN synaptotagmin VI 104 acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAGGGCTTCCAAGGGGGGA 0.602000 10 140 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237490 140237490 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140237490C>T ENST00000307360.5 + 1 1857 c.1857C>T c.(1855-1857)atC>atT p.I619I PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCACGCATCCCGTTTCGCG 0.637000 4 23 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17570670 17570670 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:17570670G>A ENST00000375471.4 + 16 2016 c.1924G>A c.(1924-1926)Gag>Aag p.E642K PADI1_ENST00000536552.1_Missense_Mutation_p.E113K|PADI1_ENST00000537499.1_Missense_Mutation_p.E199K|PADI1_ENST00000413717.2_Missense_Mutation_p.E157K|PADI1_ENST00000460293.1_3'UTR NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 642 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GCTGCAGGGGGAGATCCACTG 0.617000 4 72 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129156903 129156903 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:129156903C>T ENST00000540052.1 + 5 3683 c.3639C>T c.(3637-3639)ttC>ttT p.F1213F BCORL1_ENST00000218147.7_Silent_p.F1213F|BCORL1_ENST00000359304.2_Silent_p.F1213F|BCORL1_ENST00000303743.5_Silent_p.F1213F NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1213 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGAGCAGTTTCCGTGACTTTA 0.478000 11 168 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7691434 7691434 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:7691434G>A ENST00000572933.1 + 44 8232 c.6772G>A c.(6772-6774)Gaa>Aaa p.E2258K DNAH2_ENST00000389173.2_Missense_Mutation_p.E2258K Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2258 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACGCATGTTCGAAAAGCTCAT 0.537000 6 52 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71177007 71177007 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:71177007G>A ENST00000333538.5 + 11 2307 c.1673G>A c.(1672-1674)gGa>gAa p.G558E WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 558 Ricin B-type lectin. 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) TCCCAGAATGGAGCCATCATG 0.577000 7 96 0 0 1 0 0 TRBV9 28586 broad.mit.edu 37 7 142240016 142240016 + RNA SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:142240016G>A ENST00000390363.2 - 0 42 GCCCATGGCAGGATCTCCTAG 0.517000 4 46 0 0 1 0 0 SMTNL2 342527 broad.mit.edu 37 17 4500618 4500618 + Splice_Site SNP A A T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:4500618A>T ENST00000389313.4 + 7 1326 c.1259_splice c.e7+1 p.E420_splice SMTNL2_ENST00000338859.4_Splice_Site_p.E276_splice NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 420 CH. breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) ACCATGGCCGAGTGAGTATGG 0.632000 8 80 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589843 140589843 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140589843C>T ENST00000239450.2 + 1 1553 c.1364C>T c.(1363-1365)tCc>tTc p.S455F PCDHB12_ENST00000541609.1_Missense_Mutation_p.S118F NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 455 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCAAACTTCCTACGCCCTG 0.612000 5 131 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120979028 120979028 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:120979028G>A ENST00000222462.2 + 4 1017 c.727G>A c.(727-729)Gaa>Aaa p.E243K WNT16_ENST00000361301.2_Missense_Mutation_p.E233K NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 243 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) GTCTTCTTTTGAAAAGATTGG 0.433000 4 47 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21151925 21151925 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:21151925C>T ENST00000261383.3 - 5 627 c.628G>A c.(628-630)Gat>Aat p.D210N DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.D210N NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 210 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AACATGACATCGAGCTGCTGT 0.483000 8 105 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104056703 104056703 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:104056703G>A ENST00000388887.2 + 18 2153 c.1949G>A c.(1948-1950)gGa>gAa p.G650E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 650 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACACTGACAGGAGTTCTCATT 0.418000 9 126 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10235497 10235497 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:10235497G>A ENST00000418404.3 - 19 2380 c.2217C>T c.(2215-2217)ttC>ttT p.F739F MYH13_ENST00000570743.1_Silent_p.F739F|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.F739F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 739 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGCTGTCAATGAACTGCCCTT 0.522000 5 105 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84217325 84217325 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr16:84217325G>A ENST00000567759.1 - 3 380 c.198C>T c.(196-198)ctC>ctT p.L66L TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000541676.1_5'UTR|TAF1C_ENST00000341690.6_5'UTR|TAF1C_ENST00000378541.4_Silent_p.L66L|TAF1C_ENST00000566732.1_Silent_p.L66L NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 66 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GCAGCATGGGGAGAGGCCCAG 0.597000 4 71 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322527 134322527 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:134322527C>T ENST00000508956.1 - 10 1874 c.1817G>A c.(1816-1818)gGa>gAa p.G606E KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Missense_Mutation_p.G627E Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 0 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 GCTGCAGCTTCCCTCCCAGTA 0.517000 5 92 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510853 5510853 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:5510853G>A ENST00000322641.5 + 1 939 c.917G>A c.(916-918)cGa>cAa p.R306Q HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCGGAGTCGACTTCTAAAA 0.428000 4 59 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45885690 45885690 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:45885690G>A ENST00000007414.3 - 23 2687 c.2496C>T c.(2494-2496)ggC>ggT p.G832G OSBPL7_ENST00000392507.3_Silent_p.G832G NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 832 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 TGTTCCCATAGCCTGGCTCGG 0.657000 4 59 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092442 30092442 + RNA SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:30092442C>T ENST00000567636.1 + 0 817 NR_003558.1 CTCCTCAAGTCGTGCAGATGT 0.547000 7 78 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134303676 134303676 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:134303676C>T ENST00000344129.2 - 2 347 c.121G>A c.(121-123)Gga>Aga p.G41R CXorf48_ENST00000276241.6_Missense_Mutation_p.G41R NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 41 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) GTGACAACTCCCTGCACAGTT 0.418000 4 35 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771516 143771516 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:143771516C>T ENST00000408898.2 + 1 242 c.204C>T c.(202-204)gtC>gtT p.V68V NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGGCGGTCGTCGACATCGCCT 0.577000 9 71 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823612 70823612 + Missense_Mutation SNP A A G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:70823612A>G ENST00000373695.1 + 7 1022 c.485A>G c.(484-486)aAc>aGc p.N162S ACRC_ENST00000373696.3_Missense_Mutation_p.N162S Q96QF7 ACRC_HUMAN acidic repeat containing 162 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCTGACGACAACAGTGATGAT 0.493000 4 306 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30856031 30856031 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr22:30856031C>T ENST00000215812.4 - 12 1270 c.1180G>A c.(1180-1182)Gat>Aat p.D394N SEC14L3_ENST00000401751.1_Missense_Mutation_p.D335N|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000402286.1_Missense_Mutation_p.D317N|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000539629.1_Missense_Mutation_p.D335N|SEC14L3_ENST00000540910.1_Missense_Mutation_p.D317N NM_174975.4 NP_777635.1 Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 394 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) AGCTCCTTATCATATTTCTGC 0.507000 4 41 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71008511 71008511 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:71008511C>T ENST00000318789.4 - 21 2446 c.1921G>A c.(1921-1923)Gat>Aat p.D641N FOXP1_ENST00000491238.1_Missense_Mutation_p.D643N|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577N|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641N|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565N|FOXP1_ENST00000475937.1_Missense_Mutation_p.D641N|FOXP1_ENST00000493089.1_Missense_Mutation_p.D640N NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 641 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCCTCTGGATCGAGGGGCTCT 0.498000 T PAX5 ALL 4 53 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33958990 33958990 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:33958990G>A ENST00000361328.3 + 7 1801 c.1648G>A c.(1648-1650)Gcc>Acc p.A550T NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 550 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CTACCGGAAAGCCAAGAGCAG 0.597000 7 88 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180057744 180057744 + Missense_Mutation SNP C C T rs138831198 byFrequency TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:180057744C>T ENST00000261937.6 - 3 289 c.211G>A c.(211-213)Gga>Aga p.G71R FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.G71R|FLT4_ENST00000502649.1_Missense_Mutation_p.G71R NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 71 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.G71R(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCCTTGTCTCCGGTGGCTGGC 0.672000 5 36 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46851902 46851902 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:46851902G>A ENST00000283296.7 - 5 723 c.435C>T c.(433-435)ttC>ttT p.F145F GPR116_ENST00000265417.7_Silent_p.F145F|GPR116_ENST00000362015.4_Silent_p.F145F|GPR116_ENST00000456426.2_Silent_p.F145F NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 145 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GCCCTGGGAGGAAGACGTCAC 0.498000 5 114 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404440 20404440 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:20404440G>A ENST00000285600.4 + 1 674 c.615G>A c.(613-615)ctG>ctA p.L205L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACAGTGGCCTGATATCATTGA 0.438000 4 117 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25861881 25861881 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:25861881C>T ENST00000397060.4 - 5 705 c.596G>A c.(595-597)cGa>cAa p.R199Q SLC17A3_ENST00000361703.6_Missense_Mutation_p.R121Q|SLC17A3_ENST00000360657.3_Missense_Mutation_p.R121Q NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 121 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 GAGTCTGCTTCGTTCTTGTGG 0.428000 4 110 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625338 140625338 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:140625338C>T ENST00000231173.3 + 1 192 c.192C>T c.(190-192)gcC>gcT p.A64A NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 64 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGGGGAGCCCGGGTAGTTT 0.552000 7 69 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56078502 56078502 + Silent SNP C C T rs139664564 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr20:56078502C>T ENST00000429804.2 - 9 2240 c.1680G>A c.(1678-1680)gcG>gcA p.A560A CTCFL_ENST00000502686.2_Silent_p.A348A|CTCFL_ENST00000243914.3_Silent_p.A610A|CTCFL_ENST00000433949.2_Silent_p.A610A|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Silent_p.A610A|CTCFL_ENST00000371196.2_Silent_p.A610A|CTCFL_ENST00000422109.2_3'UTR NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 610 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CGTCTCCGTTCGCGGCTTCCT 0.502000 12 120 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7246848 7246848 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:7246848G>A ENST00000158762.3 + 6 701 c.495G>A c.(493-495)ggG>ggA p.G165G ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 165 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 CTCGAGCTGGGTACCGGGGAC 0.652000 6 65 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576493 158576493 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:158576493G>A ENST00000361284.1 + 1 265 c.265G>A c.(265-267)Gac>Aac p.D89N NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGCTGGGGGGGACCAGGCTAT 0.552000 21 217 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 1624740 1624740 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:1624740C>T ENST00000380815.4 - 10 1292 c.1023G>A c.(1021-1023)caG>caA p.Q341Q GMDS_ENST00000467288.2_5'UTR|GMDS_ENST00000530927.1_Silent_p.Q311Q NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 341 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) AGTTCAGCTTCTGTTTCGCTT 0.667000 3 28 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962938 2962938 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:2962938C>T ENST00000396946.4 - 16 2373 c.1970G>A c.(1969-1971)gGg>gAg p.G657E NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 657 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCGCACGTGCCCCACAGAGGT 0.652000 Mis DLBCL 4 62 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135076273 135076273 + Missense_Mutation SNP A A T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:135076273A>T ENST00000409645.1 + 5 788 c.536A>T c.(535-537)gAt>gTt p.D179V MGAT5_ENST00000281923.2_Missense_Mutation_p.D179V Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 179 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TATGGAGTGGATGGATCCACC 0.498000 9 169 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161023168 161023168 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:161023168C>T ENST00000368013.3 - 6 864 c.544G>A c.(544-546)Gac>Aac p.D182N ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D5N|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D182N NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 182 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GCCTCTATGTCCTTAGACCTG 0.517000 8 49 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 5 59 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57859603 57859603 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:57859603G>A ENST00000228682.2 + 7 748 c.657G>A c.(655-657)gaG>gaA p.E219E GLI1_ENST00000546141.1_Silent_p.E178E|GLI1_ENST00000543426.1_Silent_p.E91E NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 219 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) ATGGGCGGGAGGACCTCGAGA 0.562000 7 79 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201012551 201012551 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:201012551C>T ENST00000362061.3 - 40 5132 c.4906G>A c.(4906-4908)Gaa>Aaa p.E1636K CACNA1S_ENST00000367338.3_Missense_Mutation_p.E1617K NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1636 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCCATCTCTTCCATCTCTATC 0.562000 OREG0014067 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 63 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398581 10398581 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:10398581G>A ENST00000226207.5 - 36 5317 c.5223C>T c.(5221-5223)atC>atT p.I1741I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1741 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTCTCCCTGGATTTGGGAAA 0.448000 6 116 0 0 1 0 0 PRDM5 11107 broad.mit.edu 37 4 121698406 121698406 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:121698406G>A ENST00000264808.3 - 13 1714 c.1474C>T c.(1474-1476)Cca>Tca p.P492S PRDM5_ENST00000428209.2_Missense_Mutation_p.P461S|PRDM5_ENST00000515109.1_Missense_Mutation_p.P461S NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 492 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCACAATATGGACAGATTTTC 0.383000 5 77 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566609 55566609 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:55566609C>T ENST00000373965.2 - 36 5179 c.4785G>A c.(4783-4785)ctG>ctA p.L1595L PCDH15_ENST00000414778.1_Silent_p.L1592L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.L1592L(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATAATGTGTTCAGAGGTACAT 0.473000 HNSCC(58;0.16) 13 213 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52883382 52883382 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:52883382G>A ENST00000343457.3 - 1 404 c.398C>T c.(397-399)tCc>tTc p.S133F NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 133 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CACCCATGAGGACTTAGGACT 0.438000 10 125 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135392921 135392921 + Nonsense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:135392921C>T ENST00000354042.4 - 3 995 c.306G>A c.(304-306)tgG>tgA p.W102* AC091736.10_ENST00000378428.3_RNA NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 102 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TATGCAGGTTCCACTTCTCCA 0.592000 12 131 0 0 1 0 0 VEZF1 7716 broad.mit.edu 37 17 56060513 56060513 + Missense_Mutation SNP T T A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:56060513T>A ENST00000584396.1 - 2 336 c.248A>T c.(247-249)cAc>cTc p.H83L VEZF1_ENST00000581208.1_Missense_Mutation_p.H92L Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 92 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GCAGGATTCGTGGCGCCTCAG 0.502000 7 87 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163241426 163241426 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:163241426C>T ENST00000332142.5 - 13 2833 c.2734G>A c.(2734-2736)Gac>Aac p.D912N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 912 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTGCAGAGTCTTCAGGATCA 0.343000 5 80 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039151 184039151 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:184039151C>T ENST00000342981.4 + 9 1193 c.779C>T c.(778-780)tCg>tTg p.S260L EIF4G1_ENST00000414031.1_Missense_Mutation_p.S220L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S260L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S64L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S267L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S96L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S267L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S173L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S173L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S96L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S260L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S220L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S267L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S64L NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 260 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCCAGCCTTCGTCGCCTTCT 0.572000 4 67 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634003 70634003 + Silent SNP C C T rs139974573 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:70634003C>T ENST00000381269.2 - 2 1890 c.1137G>A c.(1135-1137)aaG>aaA p.K379K SLC8A3_ENST00000357887.3_Silent_p.K379K|SLC8A3_ENST00000356921.2_Silent_p.K379K|SLC8A3_ENST00000528359.1_Silent_p.K379K|SLC8A3_ENST00000534137.1_Silent_p.K379K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 379 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding p.K379K(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TGCTGGAGGCCTTCTTGGCTT 0.517000 6 105 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418737 55418737 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:55418737C>T ENST00000312422.2 + 1 358 c.358C>T c.(358-360)Cgt>Tgt p.R120C NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R120C(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GGCCTATGATCGTTATGTGGC 0.428000 14 91 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96762262 96762262 + Missense_Mutation SNP A A G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:96762262A>G ENST00000295266.4 + 1 1024 c.961A>G c.(961-963)Aga>Gga p.R321G NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 321 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TCTCCAAGATAGAATGGTAAA 0.423000 11 71 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77301835 77301835 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:77301835G>A ENST00000341514.6 + 23 4426 c.4271G>A c.(4270-4272)aGc>aAc p.S1424N ATP7A_ENST00000343533.5_Missense_Mutation_p.S1346N|ATP7A_ENST00000350425.4_Missense_Mutation_p.S427N NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1424 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CCTGCCCGGAGCCAGATAGGA 0.423000 7 166 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70513913 70513913 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr8:70513913G>A ENST00000260128.4 + 10 1627 c.910G>A c.(910-912)Ggg>Agg p.G304R SULF1_ENST00000402687.4_Missense_Mutation_p.G304R|SULF1_ENST00000458141.2_Missense_Mutation_p.G304R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.G304R NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 304 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.G304R(1) breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CGTGGAGACGGGGGAGCTGGA 0.448000 4 96 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69097377 69097377 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:69097377G>A ENST00000543976.1 - 2 725 c.479C>T c.(478-480)tCa>tTa p.S160L CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.S160L|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 160 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGTTTCCCCTGAAACACACAA 0.413000 13 175 0 0 1 0 0 UBE2A 7319 broad.mit.edu 37 X 118709340 118709340 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:118709340C>T ENST00000371558.2 + 3 302 c.128C>T c.(127-129)cCt>cTt p.P43L UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Missense_Mutation_p.P43L NM_003336.2|NM_181762.1 NP_003327.2|NP_861427.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A 43 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 TGTTGCAGGCCTGAAGGGACC 0.537000 Rad6 pathway 9 108 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25440076 25440076 + RNA SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr15:25440076G>A ENST00000424208.1 + 0 1460 SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA NR_003305.1 TTGGGTCGATGATGAGAAACT 0.522000 18 274 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71977559 71977559 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:71977559C>T ENST00000266674.5 + 18 2080 c.1769C>T c.(1768-1770)tCc>tTc p.S590F LGR5_ENST00000540815.2_Missense_Mutation_p.S566F|LGR5_ENST00000536515.1_Missense_Mutation_p.S518F|RP11-186F10.2_ENST00000546601.1_RNA O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 590 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTGTACATTTCCCCCATTAAA 0.502000 8 110 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2413800 2413800 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:2413800G>A ENST00000332578.3 + 9 1255 c.1255G>A c.(1255-1257)Ggg>Agg p.G419R NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 419 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGCGTCCAGGGGTCTATGC 0.667000 6 61 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129281738 129281738 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:129281738G>A ENST00000287295.3 - 4 693 c.463C>T c.(463-465)Cct>Tct p.P155S AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.P68S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P151S NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 155 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 CTGGCCCCAGGATCCCGAGCC 0.507000 8 126 0 0 1 0 0 EAPP 55837 broad.mit.edu 37 14 34993985 34993985 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:34993985G>A ENST00000250454.3 - 5 580 c.499C>T c.(499-501)Cgt>Tgt p.R167C NM_018453.3 NP_060923.2 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 167 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TGTTGTTGACGTGATCTCTGT 0.423000 6 47 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72432773 72432773 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr4:72432773C>T ENST00000425175.1 + 24 3269 c.3152C>T c.(3151-3153)cCt>cTt p.P1051L SLC4A4_ENST00000351898.6_3'UTR|SLC4A4_ENST00000264485.5_3'UTR|SLC4A4_ENST00000340595.3_3'UTR NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 0 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GATAAAATTCCTTTCCTTCAG 0.373000 6 64 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076180 9076180 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:9076180C>T ENST00000397910.4 - 3 11469 c.11266G>A c.(11266-11268)Ggg>Agg p.G3756R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3757 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 GTTGTGGCCCCCTGAGGAGCT 0.532000 7 119 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112912 59112912 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr14:59112912C>T ENST00000395153.3 + 4 1607 c.1460C>T c.(1459-1461)cCc>cTc p.P487L DACT1_ENST00000541264.2_Missense_Mutation_p.P243L|DACT1_ENST00000395151.3_Missense_Mutation_p.P243L|DACT1_ENST00000335867.4_Missense_Mutation_p.P524L|DACT1_ENST00000556859.1_Missense_Mutation_p.P243L NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 524 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCCACTCCTCCCCTGCTGTCT 0.607000 11 97 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3677844 3677844 + Splice_Site SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:3677844G>A ENST00000294600.2 + 5 795 c.e5-1 NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TTTCTGCCCAGGATCACTGCC 0.597000 6 39 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100497 168100497 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:168100497G>A ENST00000409195.1 + 9 2684 c.2595G>A c.(2593-2595)gaG>gaA p.E865E XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.E643E|XIRP2_ENST00000295237.9_Silent_p.E865E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 690 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TACAACGTGAGGAGATAATAG 0.358000 9 96 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917616 97917616 + RNA SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:97917616C>T ENST00000534948.1 + 0 2394 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AGCAGCTACTCCATTTTCATG 0.348000 9 114 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57323261 57323261 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr12:57323261C>T ENST00000293502.1 - 3 780 c.637G>A c.(637-639)Gag>Aag p.E213K NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 213 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 TCCAGGTTCTCCTTGCCGAGA 0.542000 9 108 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147889204 147889204 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:147889204G>A ENST00000360693.3 - 6 1029 c.891C>T c.(889-891)ttC>ttT p.F297F HTR4_ENST00000521735.1_Silent_p.F297F|HTR4_ENST00000521530.1_Silent_p.F297F|HTR4_ENST00000377888.3_Silent_p.F297F|HTR4_ENST00000314512.6_Silent_p.F297F|HTR4_ENST00000517929.1_Silent_p.F297F|HTR4_ENST00000520514.1_Silent_p.F297F|HTR4_ENST00000362016.2_Silent_p.F311F|HTR4_ENST00000354217.2_Silent_p.F297F NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 297 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CGAGCCAGAGGAAAGCAGTCC 0.488000 4 57 0 0 1 0 0 GAP43 2596 broad.mit.edu 37 3 115439694 115439694 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:115439694G>A ENST00000393780.3 + 4 1258 c.790G>A c.(790-792)Gaa>Aaa p.E264K GAP43_ENST00000305124.6_Missense_Mutation_p.E228K NM_001130064.1 NP_001123536.1 P17677 NEUM_HUMAN growth associated protein 43 228 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding cell junction|filopodium membrane|growth cone membrane|synapse calmodulin binding endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 32 GBM - Glioblastoma multiforme(114;0.164) CGAGGGTAAAGAAGAGGAACC 0.502000 4 141 0 0 1 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242709 60242709 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr18:60242709C>T ENST00000269499.5 + 13 3813 c.3395C>T c.(3394-3396)tCa>tTa p.S1132L ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S811L NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1132 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GGGAATGTCTCATGTTACAAT 0.483000 3 41 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11539978 11539978 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:11539978G>A ENST00000262442.3 + 9 1731 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K DNAH9_ENST00000454412.2_Missense_Mutation_p.E555K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 555 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAACCTCCTTGAAAGACCGCT 0.433000 4 61 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234621888 234621888 + Nonsense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:234621888G>A ENST00000373414.3 + 1 251 c.251G>A c.(250-252)tGg>tAg p.W84* UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GCCATTTCATGGACCCAGGAC 0.448000 8 74 0 0 1 0 0 MARVELD2 153562 broad.mit.edu 37 5 68728456 68728456 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:68728456C>T ENST00000325631.5 + 4 1359 c.1285C>T c.(1285-1287)Ccc>Tcc p.P429S MARVELD2_ENST00000413223.2_Missense_Mutation_p.P313S NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 429 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) TGGACACATCCCCCCAGGCCA 0.478000 5 51 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47161718 47161718 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:47161718G>A ENST00000409792.3 - 3 4450 c.4408C>T c.(4408-4410)Cca>Tca p.P1470S NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1470 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAGTAACATGGCATTTTCCCT 0.398000 """N, F, S, Mis""" clear cell renal carcinoma 4 86 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45916236 45916236 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr17:45916236G>A ENST00000407215.3 - 5 774 c.693C>T c.(691-693)tcC>tcT p.S231S SCRN2_ENST00000290216.9_Silent_p.S231S|SCRN2_ENST00000584123.1_Silent_p.S239S Q96FV2 SCRN2_HUMAN secernin 2 231 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GCTGGGTCAGGGAGAAGATCT 0.662000 10 142 0 0 1 0 0 SPSB1 80176 broad.mit.edu 37 1 9416478 9416478 + Silent SNP C C T rs34042091 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:9416478C>T ENST00000328089.6 + 2 869 c.528C>T c.(526-528)tcC>tcT p.S176S SPSB1_ENST00000377399.2_Silent_p.S176S|SPSB1_ENST00000357898.3_Silent_p.S176S NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 176 B30.2/SPRY. intracellular signal transduction cytoplasm breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2) 13 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) TCCCTGACTCCTTCCTGGTAG 0.532000 14 123 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135582869 135582869 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:135582869C>T ENST00000535601.1 + 5 884 c.462C>T c.(460-462)tcC>tcT p.S154S HTATSF1_ENST00000218364.4_Silent_p.S154S NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 154 RRM 1. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) AACTTATGTCCAAGTTTGGCA 0.303000 7 98 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86200550 86200550 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:86200550C>T ENST00000370571.2 - 59 5246 c.4880G>A c.(4879-4881)aGg>aAg p.R1627K COL24A1_ENST00000436319.1_Missense_Mutation_p.R1606K NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1627 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GCTTGTCCACCTTGGGGTGTT 0.438000 9 96 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150443426 150443426 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:150443426C>T ENST00000401000.4 + 10 1989 c.1924C>T c.(1924-1926)Ctg>Ttg p.L642L RPRD2_ENST00000369068.4_Silent_p.L668L|RPRD2_ENST00000539519.1_Silent_p.L642L|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 668 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CTCCCCAAGCCTGGAAATGAA 0.498000 5 107 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103705032 103705032 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr13:103705032G>A ENST00000245312.3 - 3 1119 c.523C>T c.(523-525)Cct>Tct p.P175S NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 175 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATGGAAACAGGAACAACGAGA 0.393000 4 56 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786832 19786832 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr9:19786832G>A ENST00000341998.2 - 1 94 c.33C>T c.(31-33)tcC>tcT p.S11S SLC24A2_ENST00000286344.3_Silent_p.S11S NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 11 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ATTTCTCTAGGGAAGTGATGG 0.423000 11 137 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909456 123909456 + Missense_Mutation SNP A A G TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr11:123909456A>G ENST00000330487.5 - 1 261 c.253T>C c.(253-255)Tcc>Ccc p.S85P NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCGCTTGGGGACACCAAGGTC 0.532000 7 124 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9079293 9079293 + Silent SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr1:9079293G>A ENST00000400906.1 - 4 410 c.411C>T c.(409-411)tcC>tcT p.S137S NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 137 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCACCACTCGGGAAAAGACGA 0.587000 5 41 0 0 1 0 0 ANKRD7 56311 broad.mit.edu 37 7 117874824 117874824 + Missense_Mutation SNP G G A TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr7:117874824G>A ENST00000357099.4 + 4 597 c.424G>A c.(424-426)Gat>Aat p.D142N ANKRD7_ENST00000433239.1_Missense_Mutation_p.D69N|ANKRD7_ENST00000265224.4_Missense_Mutation_p.D122N|ANKRD7_ENST00000417525.1_Missense_Mutation_p.D69N|ANKRD7_ENST00000477532.1_3'UTR Q92527 ANKR7_HUMAN ankyrin repeat domain 7 122 male gonad development breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 AGATCTGAGGGATATTCGTTA 0.378000 4 95 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26790086 26790086 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:26790086C>T ENST00000356785.4 + 5 732 c.499C>T c.(499-501)Cct>Tct p.P167S APBB1IP_ENST00000376236.4_Intron Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 ACCTCTGCTACCTATCACTGA 0.458000 5 58 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38936385 38936385 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:38936385C>T ENST00000302328.3 - 15 2672 c.2474G>A c.(2473-2475)gGa>gAa p.G825E SCN11A_ENST00000444237.2_Missense_Mutation_p.G825E|SCN11A_ENST00000450244.1_Missense_Mutation_p.G825E|SCN11A_ENST00000456224.3_Missense_Mutation_p.G825E NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 825 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCTGGCCTCTCCTTCTAAGTT 0.463000 4 66 0 0 1 0 0 PRSS45 377047 broad.mit.edu 37 3 46784439 46784439 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:46784439C>T ENST00000442359.2 - 3 416 c.417G>A c.(415-417)atG>atA p.M139I PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 171 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 TGGCACAGATCATGTCCCCCA 0.532000 3 21 0 0 1 0 0 PRDX2 7001 broad.mit.edu 37 19 12911105 12911105 + Missense_Mutation SNP G G A rs140568238 TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr19:12911105G>A ENST00000301522.2 - 4 394 c.266C>T c.(265-267)aCc>aTc p.T89I PRDX2_ENST00000334482.5_Missense_Mutation_p.T89I|CTD-2659N19.10_ENST00000585496.1_RNA NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 89 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TTTCCGGGGGGTGTTGATCCT 0.607000 4 82 0 0 1 0 0 C10orf128 170371 broad.mit.edu 37 10 50375998 50375998 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr10:50375998C>T ENST00000374148.1 - 2 107 c.53G>A c.(52-54)gGa>gAa p.G18E C10orf128_ENST00000374151.3_Missense_Mutation_p.G18E|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000474718.1_Missense_Mutation_p.G18E|C10orf128_ENST00000374153.2_Missense_Mutation_p.G18E Q5T292 CJ128_HUMAN chromosome 10 open reading frame 128 18 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 CACTTGAGCTCCTCCTACATC 0.572000 4 99 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44413473 44413473 + Nonsense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr6:44413473C>T ENST00000371477.3 + 15 2472 c.2173C>T c.(2173-2175)Cag>Tag p.Q725* NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 725 Interaction with PLRG1. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGGGGGTTACCAGTCTCGTGC 0.453000 7 57 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751222 162751222 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr2:162751222C>T ENST00000375514.5 + 11 1458 c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C SLC4A10_ENST00000415876.2_Missense_Mutation_p.R380C|SLC4A10_ENST00000535165.1_Silent_p.I380I|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R380C|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R410C NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 410 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.R380C(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGCTAAAGATCGTAATGACTT 0.328000 6 44 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838545 155838545 + Missense_Mutation SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr3:155838545C>T ENST00000490337.1 + 1 209 c.145C>T c.(145-147)Ccc>Tcc p.P49S KCNAB1_ENST00000389636.5_Missense_Mutation_p.P49S NM_172160.2 NP_751892.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 49 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CAGCCTTAGTCCCTCAGGGGA 0.537000 4 56 0 0 1 0 0 GTF2H2B 653238 broad.mit.edu 37 5 69716208 69716209 + RNA INS - - T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chr5:69716208_69716209insT ENST00000513202.1 + 0 197 NR_033417.1 TAGACAATGTCTTTTTTtttct 0.302 2 4 --- --- --- --- ACOT9 23597 broad.mit.edu 37 X 23761252 23761252 + Frame_Shift_Del DEL C C - TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a01f9a53-0d34-43c8-842c-be25f7c80296 9cfe72cc-d66e-4990-a116-86bd21e23136 g.chrX:23761252delC ENST00000379303.5 - 1 138 c.10delG c.(10-12)cafs p.A5fs ACOT9_ENST00000492081.1_5'UTR|ACOT9_ENST00000379295.1_Intron|ACOT9_ENST00000336430.7_Frame_Shift_Del_p.A5fs NM_001037171.1 NP_001032248.1 Q9Y305 ACOT9_HUMAN acyl-CoA thioesterase 9 5 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1) 15 CGCAGTGCTGCCCGCCTCATT 0.697 2 4 --- --- --- ---