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 ARHGEF16 27237 broad.mit.edu 37 1 3394457 3394457 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:3394457G>A uc001akg.4 + 10 1740 c.1492G>A c.(1492-1494)Gcc>Acc p.A498T ARHGEF16_uc001aki.3_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A202T NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA. 498 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) ACTGATCTCTGCCTCCCGGTG 0.622 ADCY10 55811 broad.mit.edu 37 1 167814945 167814945 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:167814945G>A uc001ger.3 - 20 3161 c.2863C>T c.(2863-2865)Cgc>Tgc p.R955C ADCY10_uc010plj.2_Missense_Mutation_p.R802C|ADCY10_uc009wvk.3_Missense_Mutation_p.R863C|ADCY10_uc009wvl.3_Missense_Mutation_p.R954C NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 955 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCTAAAAAGCGGGCACATTTC 0.488 KIAA1614 57710 broad.mit.edu 37 1 180904433 180904433 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:180904433G>A uc001gok.2 + 4 1455 c.1388G>A c.(1387-1389)cGt>cAt p.R463H KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN Homo sapiens KIAA1614 (KIAA1614), mRNA. 463 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GCCGAGTTCCGTCACCTGGAG 0.731 GLUL 2752 broad.mit.edu 37 1 182356407 182356407 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:182356407C>T uc001gpa.2 - 2 430 c.187G>A c.(187-189)Gat>Aat p.D63N GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.D63N|GLUL_uc001gpc.2_Missense_Mutation_p.D63N|GLUL_uc001gpd.2_Missense_Mutation_p.D63N NM_001033056 NP_002056 P15104 GLNA_HUMAN Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA. 63 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) CTAGAGCCATCGAAATTCCAC 0.473 RAB3GAP2 25782 broad.mit.edu 37 1 220359030 220359030 + Silent SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:220359030G>A uc010puk.1 - 17 1997 c.1833C>T c.(1831-1833)aaC>aaT p.N611N RAB3GAP2_uc021pjf.1_Silent_p.N611N|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.N191N NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. 611 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) TCTGAGTGATGTTTCTAAGGC 0.333 HLX 3142 broad.mit.edu 37 1 221057616 221057616 + Missense_Mutation SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:221057616A>G uc001hmv.4 + 3 1494 c.1037A>G c.(1036-1038)gAg>gGg p.E346G NM_021958 NP_068777 Q14774 HLX_HUMAN Homo sapiens H2.0-like homeobox (HLX), mRNA. 346 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) AAGGACAAGGAGGCTGGCGAG 0.667 HHIPL2 79802 broad.mit.edu 37 1 222705452 222705452 + Nonsense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:222705452G>A uc001hnh.1 - 6 1636 c.1578_splice c.e6-1 p.G526_splice NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 526 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GCCATAAGTCGACTAGACAAA 0.438 RYR2 6262 broad.mit.edu 37 1 237787140 237787151 + In_Frame_Del DEL GATTTCCATGAA GATTTCCATGAA - TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:237787140_237787151delGATTTCCATGAA uc001hyl.1 + 38 6112_6123 c.5992_6003delGATTTCCATGAA c.(5992-6003)gatttccatgaadel p.DFHE1998del NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1998 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCAACTATTGGATTTCCATGAAGATTTGATGA 0.307 RYR2 6262 broad.mit.edu 37 1 237947552 237947552 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr1:237947552C>T uc001hyl.1 + 89 12660 c.12540C>T c.(12538-12540)ggC>ggT p.G4180G RYR2_uc010pya.2_Silent_p.G595G NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4180 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCAACGAAGGCGGAGAGAAAG 0.502 OR9G9 504191 broad.mit.edu 37 11 56467944 56467944 + Frame_Shift_Del DEL C C - TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr11:56467944delC uc010rjn.2 + 0 81 c.81delC c.(79-81)ttcfs p.F27fs OR8U8_uc001nit.2_Intron NM_001013358 NP_001013376 Q8NH87 OR9G1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity TGGGCCTCTTCGTGGTGTTCC 0.502 LRRC55 219527 broad.mit.edu 37 11 56949854 56949854 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr11:56949854C>T uc001njl.2 + 0 634 c.487C>T c.(487-489)Ctg>Ttg p.L163L NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 133 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 ACACTTGGACCTGAGCTACAA 0.582 OR5AN1 390195 broad.mit.edu 37 11 59132440 59132440 + Missense_Mutation SNP G G T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr11:59132440G>T uc010rks.2 + 0 509 c.509G>T c.(508-510)tGt>tTt p.C170F NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 CTCCACTTCTGTGGGTCTAAT 0.443 MMP13 4322 broad.mit.edu 37 11 102822878 102822878 + Missense_Mutation SNP G G A rs147544761 TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr11:102822878G>A uc001phl.3 - 4 691 c.662C>T c.(661-663)gCg>gTg p.A221V NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 221 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GAACTCATGCGCAGCAACAAG 0.423 GRIN2B 2904 broad.mit.edu 37 12 13724856 13724856 + Missense_Mutation SNP T T C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr12:13724856T>C uc001rbt.2 - 9 2232 c.2053A>G c.(2053-2055)Acc>Gcc p.T685A NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 685 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGGGCACGGTCCCAAAGCGG 0.493 NR4A1 3164 broad.mit.edu 37 12 52448556 52448556 + Silent SNP G G T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr12:52448556G>T uc001rzs.3 + 2 763 c.444G>T c.(442-444)ccG>ccT p.P148P NR4A1_uc010sno.2_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.2_Silent_p.P148P|NR4A1_uc001rzt.3_Silent_p.P148P|NR4A1_uc009zmc.3_5'Flank NM_002135 NP_775180 P22736 NR4A1_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA. 148 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GCTTCCAGCCGCCCCAGCTCT 0.677 ESYT1 23344 broad.mit.edu 37 12 56536179 56536179 + Missense_Mutation SNP G G T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr12:56536179G>T uc001sjr.3 + 24 2851 c.2733G>T c.(2731-2733)caG>caT p.Q911H ESYT1_uc001sjq.3_Missense_Mutation_p.Q901H NM_001184796 NP_001171725 Q9BSJ8 ESYT1_HUMAN Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA. 901 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GCAGTGGTCAGGGGCAGGTGC 0.622 RNFT2 84900 broad.mit.edu 37 12 117217036 117217036 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr12:117217036C>T uc009zwn.3 + 6 998 c.765C>T c.(763-765)gaC>gaT p.D255D RNFT2_uc001twb.4_Silent_p.D255D|RNFT2_uc001twa.4_Silent_p.D165D|RNFT2_uc001twc.4_Silent_p.D3D NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA. 255 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) AGATGCTGGACTTCTTTGACC 0.547 VSIG10 54621 broad.mit.edu 37 12 118517207 118517207 + Missense_Mutation SNP C C A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr12:118517207C>A uc001tws.3 - 3 1203 c.869G>T c.(868-870)tGt>tTt p.C290F NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA. 290 Ig-like C2-type 3. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GCTTGTAACACACTTGAACTT 0.542 CCDC60 160777 broad.mit.edu 37 12 119942953 119942953 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr12:119942953G>A uc001txe.3 + 6 1193 c.728G>A c.(727-729)cGg>cAg p.R243Q AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 243 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AGTCTGAGTCGGGCCAGTGGG 0.557 RNF17 56163 broad.mit.edu 37 13 25425654 25425654 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr13:25425654C>T uc001upr.3 + 23 3306 c.3265C>T c.(3265-3267)Cgt>Tgt p.R1089C RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010tde.2_Missense_Mutation_p.R1085C|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R1028C|RNF17_uc010aac.3_Missense_Mutation_p.R287C|RNF17_uc010aad.3_Missense_Mutation_p.R141C NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1089 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAAAGGAGAGCGTGTTGATGT 0.333 PCDH9 5101 broad.mit.edu 37 13 67205380 67205380 + Missense_Mutation SNP T T C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr13:67205380T>C uc001vik.3 - 3 3994 c.3302A>G c.(3301-3303)aAg>aGg p.K1101R PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.K1067R|PCDH9_uc010thl.2_Missense_Mutation_p.K1059R|U7_uc021rkh.1_5'Flank NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA. 1101 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTCAGTCCTCTTGTCCGGAGA 0.512 KLF12 11278 broad.mit.edu 37 13 74387376 74387376 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr13:74387376C>T uc001vjf.3 - 4 941 c.719G>A c.(718-720)aGt>aAt p.S240N KLF12_uc010aeq.3_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N NM_007249 NP_009180 Q9Y4X4 KLF12_HUMAN Homo sapiens Kruppel-like factor 12 (KLF12), mRNA. 240 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) ATCATCATCACTGTCACTTTT 0.423 HEATR5A 25938 broad.mit.edu 37 14 31852888 31852888 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr14:31852888C>T uc001wrf.4 - 9 1620 c.1435G>A c.(1435-1437)Gca>Aca p.A479T HEATR5A_uc010ami.3_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA. 473 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GAGGGTAATGCCACGGCAATG 0.468 RYR3 6263 broad.mit.edu 37 15 34049760 34049760 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr15:34049760G>A uc001zhi.3 + 59 8738 c.8668G>A c.(8668-8670)Gga>Aga p.G2890R RYR3_uc010bar.3_Missense_Mutation_p.G2890R NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 2890 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TAGCAGCAGCGGATATGCCTC 0.512 SPTBN5 51332 broad.mit.edu 37 15 42162053 42162053 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr15:42162053G>A uc001zos.3 - 31 6067 c.5734C>T c.(5734-5736)Cgc>Tgc p.R1912C NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 1947 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GTGCGGAAGCGGGCCAGGAGG 0.682 GALK2 2585 broad.mit.edu 37 15 49620177 49620177 + Missense_Mutation SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr15:49620177A>G uc001zxj.1 + 9 1296 c.1198A>G c.(1198-1200)Act>Gct p.T400A GALK2_uc001zxi.1_Missense_Mutation_p.T389A|GALK2_uc010ufb.1_Missense_Mutation_p.T376A|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.T376A NM_002044 NP_002035 Q01415 GALK2_HUMAN Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA. 400 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) GTCACGACTTACTGGAGCAGG 0.438 SLC24A1 9187 broad.mit.edu 37 15 65917215 65917215 + Missense_Mutation SNP C C A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr15:65917215C>A uc010ujf.2 + 1 1084 c.797C>A c.(796-798)gCa>gAa p.A266E SLC24A1_uc010ujd.1_Missense_Mutation_p.A266E|SLC24A1_uc010uje.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujg.2_Missense_Mutation_p.A266E|SLC24A1_uc010ujh.2_Missense_Mutation_p.A266E NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 266 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GAGGTAGAAGCAAACGTCTTG 0.473 MYO15A 51168 broad.mit.edu 37 17 18052554 18052554 + Silent SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr17:18052554G>A uc021trm.1 + 32 7200 c.6981G>A c.(6979-6981)tcG>tcA p.S2327S MYO15A_uc021trl.1_Silent_p.S2325S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 2327 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCTGGGACTCGGATGAGGACA 0.537 MYO1D 4642 broad.mit.edu 37 17 31107790 31107790 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr17:31107790C>T uc002hho.1 - 1 120 c.108G>A c.(106-108)ggG>ggA p.G36G MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.2_Silent_p.G36G NM_015194 NP_056009 O94832 MYO1D_HUMAN Homo sapiens myosin ID (MYO1D), mRNA. 36 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TATAGATGCGCCCTTTTTCAA 0.413 SLC4A1 6521 broad.mit.edu 37 17 42335421 42335421 + Silent SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr17:42335421G>A uc002igf.4 - 10 1364 c.1215C>T c.(1213-1215)gtC>gtT p.V405V SLC4A1_uc021tyc.1_Intron NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 405 Membrane (anion exchange). Missing (in EL4). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity p.Q404H(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CGGCAGCCAGGACCTGGGGGC 0.597 RBBP8 5932 broad.mit.edu 37 18 20564928 20564928 + Silent SNP T T C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr18:20564928T>C uc002kua.3 + 7 807 c.684T>C c.(682-684)taT>taC p.Y228Y RBBP8_uc002ktw.3_Silent_p.Y228Y|RBBP8_uc002kty.3_Silent_p.Y228Y|RBBP8_uc002ktz.3_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y NM_203291 NP_976036 Q99708 COM1_HUMAN Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA. 228 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CTGACACTTATGACCAAAGTC 0.353 Homologous recombination C3 718 broad.mit.edu 37 19 6677900 6677900 + Missense_Mutation SNP G G T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr19:6677900G>T uc002mfm.3 - 40 5047 c.4985C>A c.(4984-4986)cCc>cAc p.P1662H NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1662 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGGTCAGTTGGGGCACCCAAA 0.557 FKBP8 23770 broad.mit.edu 37 19 18649190 18649190 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr19:18649190G>A uc002njk.1 - 4 718 c.605C>T c.(604-606)aCg>aTg p.T202M FKBP8_uc010xqi.1_Missense_Mutation_p.T231M|FKBP8_uc002njj.1_Missense_Mutation_p.T203M|FKBP8_uc021uqp.1_Intron NM_012181 NP_036313 Q14318 FKBP8_HUMAN Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA. 202 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GTCCACAGCCGTCTTCAGGGT 0.697 ZNF181 339318 broad.mit.edu 37 19 35232200 35232200 + Missense_Mutation SNP T T G rs143797666 TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr19:35232200T>G uc002nvu.3 + 3 1377 c.914T>G c.(913-915)gTc>gGc p.V305G ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA. 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V241G(4) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTTAGCCATGTCTCATCACTT 0.413 TMEM147 10430 broad.mit.edu 37 19 36037641 36037641 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr19:36037641C>T uc002oaj.2 + 3 415 c.275C>T c.(274-276)gCc>gTc p.A92V AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron NM_032635 NP_001229526 Q9BVK8 TM147_HUMAN Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA. 92 endoplasmic reticulum membrane|integral to membrane protein binding p.A92V(2)|p.A92A(1) endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCCCGGAATGCCGGCAAGGGA 0.572 NPHS1 4868 broad.mit.edu 37 19 36339161 36339161 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr19:36339161C>T uc002oby.3 - 9 1465 c.1309G>A c.(1309-1311)Gta>Ata p.V437I NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 437 cell adhesion|excretion|muscle organ development integral to plasma membrane p.V437I(2) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCACATTTTACGTTCAGGATG 0.582 TTYH1 57348 broad.mit.edu 37 19 54930375 54930375 + Missense_Mutation SNP T T C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr19:54930375T>C uc002qfr.3 + 1 322 c.200T>C c.(199-201)aTc>aCc p.I67T TTYH1_uc010yey.2_Missense_Mutation_p.I116T|TTYH1_uc002qfq.3_Missense_Mutation_p.I67T|TTYH1_uc002qft.3_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR NM_001005367 NP_001005367 Q9H313 TTYH1_HUMAN Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA. 67 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) GTCTACCTCATCCGCTTCTGC 0.682 ZNF418 147686 broad.mit.edu 37 19 58441862 58441862 + Missense_Mutation SNP T T A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr19:58441862T>A uc002qqs.1 - 2 359 c.67A>T c.(67-69)Agt>Tgt p.S23C ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Intron NM_133460 NP_597717 Q8TF45 ZN418_HUMAN Homo sapiens zinc finger protein 418 (ZNF418), mRNA. 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) TGAACCTCACTAAGGAGACTC 0.483 ALMS1 7840 broad.mit.edu 37 2 73677648 73677648 + Missense_Mutation SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr2:73677648A>G uc002sje.1 + 7 4102 c.3991A>G c.(3991-3993)Act>Gct p.T1331A ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.3_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 1331 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TTTACCCTCTACTTTCTACTC 0.453 INPP1 3628 broad.mit.edu 37 2 191236128 191236128 + Nonstop_Mutation SNP G G C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr2:191236128G>C uc002ury.4 + 6 1900 c.1200G>C c.(1198-1200)taG>taC p.*400Y INPP1_uc010fsb.3_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.4_Nonstop_Mutation_p.*400Y NM_001128928 NP_002185 P49441 INPP_HUMAN Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA. 0 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) CGCATACCTAGAGGAACTCTA 0.493 PROKR2 128674 broad.mit.edu 37 20 5283335 5283335 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr20:5283335G>A uc010zqw.2 - 1 514 c.506C>T c.(505-507)aCg>aTg p.T169M PROKR2_uc010zqx.2_Missense_Mutation_p.T169M|PROKR2_uc010zqy.2_Missense_Mutation_p.T169M NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 169 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 GAAGGAGGCCGTTTGATAATT 0.488 HNSCC(71;0.22) SEMG2 6407 broad.mit.edu 37 20 43851266 43851266 + Silent SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr20:43851266A>G uc010ggz.3 + 1 1050 c.993A>G c.(991-993)acA>acG p.T331T SEMG2_uc002xnk.3_Silent_p.T331T|SEMG2_uc002xnl.3_Silent_p.T331T NM_003008 NP_002999 Q02383 SEMG2_HUMAN Homo sapiens semenogelin II (SEMG2), mRNA. 331 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ACCAGGTAACAATTCATAGTC 0.373 WFDC8 90199 broad.mit.edu 37 20 44180784 44180784 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr20:44180784G>A uc002xow.3 - 5 686 c.607C>T c.(607-609)Cgc>Tgc p.R203C WFDC8_uc002xox.3_Missense_Mutation_p.R203C NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA. 203 WAP 3. extracellular region serine-type endopeptidase inhibitor activity p.P202Q(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) AAGGGCTTGCGTGGGCAGAAA 0.423 MOCS3 27304 broad.mit.edu 37 20 49575846 49575846 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr20:49575846C>T uc002xvy.1 + 0 484 c.467C>T c.(466-468)cCg>cTg p.P156L DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA. 156 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 GAATGCGTGCCGTACACTCAG 0.657 UMODL1 89766 broad.mit.edu 37 21 43496188 43496188 + Missense_Mutation SNP G G C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr21:43496188G>C uc002zag.1 + 1 151 c.151G>C c.(151-153)Gtg>Ctg p.V51L UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.V51L|AX748362_uc002zah.1_Non-coding_Transcript NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 51 EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGTGGAGGCCGTGCAGACGTC 0.587 CAV3 859 broad.mit.edu 37 3 8787341 8787341 + Missense_Mutation SNP G G A rs112626848 TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr3:8787341G>A uc003bra.3 + 1 321 c.244G>A c.(244-246)Gtc>Atc p.V82I C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.V82I NM_001234 NP_001225 P56539 CAV3_HUMAN Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. 82 Required for interaction with DAG1. cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 GCTGCTGGGCGTCCCACTGGC 0.587 RPL32 6161 broad.mit.edu 37 3 12880946 12880946 + Silent SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr3:12880946A>G uc003bxl.3 - 1 393 c.180T>C c.(178-180)taT>taC p.Y60Y RPL32_uc003bxm.3_Silent_p.Y60Y|RPL32_uc003bxn.3_Silent_p.Y60Y NM_001007074 NP_001007075 P62910 RL32_HUMAN Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA. 60 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 TGTTGCTTCCATAACCAATGT 0.483 IQSEC1 9922 broad.mit.edu 37 3 12977752 12977752 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr3:12977752G>A uc003bxt.2 - 2 815 c.806C>T c.(805-807)cCg>cTg p.P269L IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 269 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ATCCAGGGCCGGTGCCTCCTC 0.642 ZNF385D 79750 broad.mit.edu 37 3 21606168 21606168 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr3:21606168C>T uc003cce.3 - 2 582 c.174G>A c.(172-174)ccG>ccA p.P58P ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 58 nucleus nucleic acid binding|zinc ion binding p.P58T(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CTTTCTGAATCGGGTCCATCT 0.358 PRR23A 729627 broad.mit.edu 37 3 138724917 138724917 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr3:138724917G>A uc011bms.2 - 0 194 c.194C>T c.(193-195)gCg>gTg p.A65V NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN Homo sapiens proline rich 23A (PRR23A), mRNA. 65 endometrium(3)|kidney(1)|lung(7) 11 GGCACAGCCCGCGGCCAGGAC 0.721 MUC4 4585 broad.mit.edu 37 3 195515160 195515160 + Silent SNP T T C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr3:195515160T>C uc021xjp.1 - 1 3447 c.3291A>G c.(3289-3291)gcA>gcG p.A1097A MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 964 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACCTGTGGATGCTGAGGAAG 0.572 MAN2B2 23324 broad.mit.edu 37 4 6578364 6578364 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr4:6578364C>T uc003gjf.1 + 1 234 c.198C>T c.(196-198)cgC>cgT p.R66R MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA. 66 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 AGCTGGCCCGCGGCCAGCAGC 0.627 PCDH7 5099 broad.mit.edu 37 4 30726111 30726111 + Missense_Mutation SNP G G T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr4:30726111G>T uc003gsk.1 + 0 4075 c.3067G>T c.(3067-3069)Gat>Tat p.D1023Y PCDH7_uc011bxx.2_Missense_Mutation_p.D1023Y|PCDH7_uc021xnd.1_Missense_Mutation_p.D1023Y|PCDH7_uc021xnc.1_Missense_Mutation_p.D1023Y NM_002589 NP_002580 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA. 1023 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GGCCGTACAAGATCTACCACC 0.468 KLB 152831 broad.mit.edu 37 4 39435838 39435838 + Silent SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr4:39435838G>A uc003gua.3 + 1 931 c.834G>A c.(832-834)tcG>tcA p.S278S KLB_uc011byj.2_Silent_p.S278S NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN Homo sapiens klotho beta (KLB), mRNA. 278 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AGGCTCACTCGAAAGTTTGGC 0.413 NPFFR2 10886 broad.mit.edu 37 4 73012972 73012972 + Missense_Mutation SNP G G T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr4:73012972G>T uc003hgg.2 + 3 1110 c.1012G>T c.(1012-1014)Gtc>Ttc p.V338F NPFFR2_uc010iig.2_Missense_Mutation_p.V120F|NPFFR2_uc003hgi.2_Missense_Mutation_p.V239F|NPFFR2_uc003hgh.2_Missense_Mutation_p.V236F NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 338 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) CTCCCTCATTGTCATCATGTA 0.517 FAM190A 7117 broad.mit.edu 37 4 91760137 91760137 + Missense_Mutation SNP G G C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr4:91760137G>C uc003hsv.4 + FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.3_Intron NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA. NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 GTCTTCTTCAGTTTCGGCTTA 0.522 CFI 3426 broad.mit.edu 37 4 110663746 110663746 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr4:110663746C>T uc011cft.2 - 12 1667 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K CFI_uc003hzq.3_Missense_Mutation_p.E276K|CFI_uc003hzr.4_Missense_Mutation_p.E479K NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 479 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) AAGACTCTTTCGTTATCTAAA 0.338 FAT1 2195 broad.mit.edu 37 4 187541102 187541102 + Missense_Mutation SNP T T A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr4:187541102T>A uc003izf.3 - 9 6826 c.6638A>T c.(6637-6639)aAa>aTa p.K2213I NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 2213 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTAGAACACTTTCAGGCCTTC 0.498 HNSCC(5;0.00058) CDH9 1007 broad.mit.edu 37 5 26902769 26902769 + Nonsense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr5:26902769G>A uc003jgs.1 - 6 1238 c.1069C>T c.(1069-1071)Cga>Tga p.R357* NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 357 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGTAAGAATCGTGGATCAGGG 0.358 MTX3 345778 broad.mit.edu 37 5 79284387 79284387 + Missense_Mutation SNP C C G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr5:79284387C>G uc010jag.3 - 4 429 c.402G>C c.(400-402)ttG>ttC p.L134F MTX3_uc010jah.3_Missense_Mutation_p.L134F|MTX3_uc003kge.4_Missense_Mutation_p.L73F|MTX3_uc003kgf.1_5'Flank NM_001167741 NP_001161213 Q5HYI7 MTX3_HUMAN Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA. 134 protein targeting to mitochondrion mitochondrial outer membrane endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1) 7 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) GGATCAAACTCAAAGGAAAAG 0.453 GPR98 84059 broad.mit.edu 37 5 89943466 89943466 + Silent SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr5:89943466A>G uc003kju.3 + 16 3270 c.3174A>G c.(3172-3174)ggA>ggG p.G1058G GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1058 Calx-beta 8. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGAAAAAGGAGAAACGCTCA 0.413 PCDHAC2 56137 broad.mit.edu 37 5 140256668 140256668 + Silent SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr5:140256668G>A uc003lic.2 + 0 1738 c.1611G>A c.(1609-1611)gcG>gcA p.A537A PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A537A NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 551 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGACGCCG 0.687 SIM1 6492 broad.mit.edu 37 6 100838896 100838896 + Nonsense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr6:100838896G>A uc003pqj.4 - 10 2109 c.1642C>T c.(1642-1644)Cga>Tga p.R548* SIM1_uc021zdg.1_Nonsense_Mutation_p.R548*|SIM1_uc010kcu.3_Nonsense_Mutation_p.R548* NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 548 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTACGATATCGGTCACCTGAT 0.428 RFX6 222546 broad.mit.edu 37 6 117246619 117246619 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr6:117246619C>T uc003pxm.3 + 15 1745 c.1682C>T c.(1681-1683)gCg>gTg p.A561V NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 561 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.A561V(6) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTTCCAGATGCGAGTAAAGCT 0.393 SHPRH 257218 broad.mit.edu 37 6 146215353 146215353 + Missense_Mutation SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr6:146215353A>G uc003qlf.3 - 26 5027 c.4628T>C c.(4627-4629)aTt>aCt p.I1543T SHPRH_uc003qle.3_Missense_Mutation_p.I1547T NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 1543 Helicase C-terminal. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTTTGAAATAATATCTAATAC 0.313 SMOC2 64094 broad.mit.edu 37 6 169064764 169064764 + Silent SNP T T C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr6:169064764T>C uc003qwr.2 + 11 1549 c.1329T>C c.(1327-1329)ggT>ggC p.G443G SMOC2_uc003qws.2_Silent_p.G432G|SMOC2_uc011egu.2_Silent_p.G109G NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA. 432 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CCCCCAGAGGTCATGCTGAAA 0.299 NOD1 10392 broad.mit.edu 37 7 30492365 30492365 + Missense_Mutation SNP C C T rs139576372 TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr7:30492365C>T uc003tav.3 - 5 1191 c.668G>A c.(667-669)cGg>cAg p.R223Q NOD1_uc010kvs.2_Intron NM_006092 NP_006083 Q9Y239 NOD1_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA. 223 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 TGCGTCTAGCCGGCCCGTGGC 0.577 EGFR 1956 broad.mit.edu 37 7 55221711 55221711 + Missense_Mutation SNP G G C TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr7:55221711G>C uc003tqk.3 + 6 1001 c.755G>C c.(754-756)cGc>cCc p.R252P EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 252 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TAGGTCTGCCGCAAATTCCGA 0.587 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) WNT2 7472 broad.mit.edu 37 7 116960680 116960680 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr7:116960680C>T uc003viz.3 - 1 551 c.251G>A c.(250-252)cGc>cAc p.R84H WNT2_uc003vja.3_Silent_p.P9P NM_003391 NP_003382 P09544 WNT2_HUMAN Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA. 84 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GCAATTCCAGCGGTGCTGGCG 0.597 MGAM 8972 broad.mit.edu 37 7 141734061 141734061 + Splice_Site SNP G G T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr7:141734061G>T uc003vwy.3 + 15 1724 c.1670_splice c.e15-1 p.R557_splice NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 557 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTTGTTTCAGGAATCCTGGA 0.478 FAM135B 51059 broad.mit.edu 37 8 139164563 139164563 + Nonsense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr8:139164563G>A uc003yuy.3 - 12 2326 c.2155C>T c.(2155-2157)Cga>Tga p.R719* FAM135B_uc003yux.3_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.R281* NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 719 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATGTCTTCGAACAAACGGG 0.567 HNSCC(54;0.14) BNC2 54796 broad.mit.edu 37 9 16419622 16419622 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr9:16419622G>A uc003zml.3 - 6 2805 c.2665C>T c.(2665-2667)Cgt>Tgt p.R889C BNC2_uc011lmw.2_Missense_Mutation_p.R794C|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R676C NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 889 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AACAGTTTACGATGTAGGTTT 0.488 LINGO2 158038 broad.mit.edu 37 9 27950347 27950347 + Missense_Mutation SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr9:27950347C>T uc003zqv.1 - 6 973 c.323G>A c.(322-324)cGt>cAt p.R108H LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqu.1_Missense_Mutation_p.R108H|LINGO2_uc022bfc.1_Missense_Mutation_p.R108H NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 108 integral to membrane p.R108H(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCGGAGGGAACGCAGGTTAAA 0.438 WNK2 65268 broad.mit.edu 37 9 96051416 96051416 + Silent SNP A A G TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chr9:96051416A>G uc004ati.1 + 19 4491 c.4491A>G c.(4489-4491)ccA>ccG p.P1497P WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.3_Silent_p.P1460P|WNK2_uc004atk.3_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1497 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CTCCAGCTCCAGAGGCTGCCT 0.692 MAGEB4 4115 broad.mit.edu 37 X 30260502 30260502 + Missense_Mutation SNP G G A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chrX:30260502G>A uc004dcb.3 + 0 446 c.250G>A c.(250-252)Gac>Aac p.D84N MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA. 84 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 TGATAAAGGCGACGAGAGCCA 0.517 AR 367 broad.mit.edu 37 X 66937441 66937441 + Silent SNP C C T TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chrX:66937441C>T uc004dwu.2 + 4 3410 c.2295C>T c.(2293-2295)ttC>ttT p.F765F AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F NM_000044 NP_000035 P10275 ANDR_HUMAN Homo sapiens androgen receptor (AR), transcript variant 1, mRNA. 764 Interaction with MYST2.|Ligand-binding. A -> T (in AIS; loss of androgen binding).|A -> V (in AIS). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TGCTCTACTTCGCCCCTGATC 0.542 Androgen Insensitivity Syndrome KDM5D 8284 broad.mit.edu 37 Y 21897252 21897252 + Missense_Mutation SNP T T A TCGA-12-3652-01A-01D-1495-08 TCGA-12-3652-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab460bc2-e504-4b7f-8533-ab06448a55bc efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0 g.chrY:21897252T>A uc004fug.3 - 7 1207 c.919A>T c.(919-921)Agc>Tgc p.S307C KDM5D_uc011naz.2_Missense_Mutation_p.S307C|KDM5D_uc010nwy.3_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA. 307 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) TGGGCACTGCTGTGATTCTTT 0.398