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 ASPSCR1 79058 broad.mit.edu 37 17 79954353 79954353 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:79954353A>G ENST00000306729.7 + 7 661 c.564A>G c.(562-564)tcA>tcG p.S188S ASPSCR1_ENST00000580534.1_Silent_p.S111S|ASPSCR1_ENST00000306739.4_Silent_p.S188S NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 188 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGGGCTCGTCAGCGTCGGCTG 0.657000 T TFE3 alveolar soft part sarcoma 18 29 0 0 0.00074312 0 0 KANK4 163782 broad.mit.edu 37 1 62739384 62739384 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:62739384C>T ENST00000371153.4 - 3 1770 c.1392G>A c.(1390-1392)ggG>ggA p.G464G KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 464 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GGCTCTGATTCCCTTGTTTAT 0.567000 49 62 0 0 0.000781405 0 0 SNX20 124460 broad.mit.edu 37 16 50707821 50707821 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:50707821G>A ENST00000330943.4 - 4 618 c.447C>T c.(445-447)ttC>ttT p.F149F SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 149 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 TCTCCTCAGCGAAGTTCCCAG 0.617000 19 19 0 0 0.00188189 0 0 FRMPD2 143162 broad.mit.edu 37 10 49444536 49444536 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:49444536C>T ENST00000374201.3 - 9 1284 c.982G>A c.(982-984)Gga>Aga p.G328R FRMPD2_ENST00000305531.3_Missense_Mutation_p.G304R|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G297R NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 328 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ACAACCGATCCCGGCAGATGT 0.552000 27 36 0 0 0.000491102 0 0 NGEF 25791 broad.mit.edu 37 2 233748746 233748746 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:233748746C>T ENST00000264051.3 - 11 1824 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K NGEF_ENST00000373552.4_Missense_Mutation_p.E424K|NGEF_ENST00000539537.1_Missense_Mutation_p.E239K NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 516 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) AGGTAAATTTCGTGGAAGAGC 0.612000 11 17 0 0 0.00185496 0 0 INTS3 65123 broad.mit.edu 37 1 153723710 153723710 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:153723710G>A ENST00000456435.1 + 7 1292 c.106G>A c.(106-108)Gaa>Aaa p.E36K INTS3_ENST00000512605.1_Missense_Mutation_p.E36K|INTS3_ENST00000435409.2_Missense_Mutation_p.E242K|INTS3_ENST00000476843.1_3'UTR|RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000318967.2_Missense_Mutation_p.E242K Q68E01 INT3_HUMAN integrator complex subunit 3 243 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACTGCTTCGGGAACGGGTGAG 0.517000 32 33 0 0 0.00128727 0 0 IGKV1OR2-118 339562 broad.mit.edu 37 2 90458637 90458637 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:90458637A>G ENST00000603238.1 + 2 313 c.313A>G c.(313-315)Act>Gct p.105_105insA AGATTTTGCAACTTATTACTG 0.512000 8 478 0 0 0.00152264 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708300 126708300 + Missense_Mutation SNP C C G rs139269120 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:126708300C>G ENST00000251772.4 + 1 864 c.795C>G c.(793-795)gaC>gaG p.D265E PLXNA1_ENST00000393409.2_Missense_Mutation_p.D288E Q9UIW2 PLXA1_HUMAN plexin A1 288 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TCTGTGTGGACGACCCCAAAT 0.617000 63 100 0 0 0.000781405 0 0 ANO3 63982 broad.mit.edu 37 11 26681885 26681885 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:26681885G>A ENST00000256737.3 + 27 3692 c.2840G>A c.(2839-2841)cGa>cAa p.R947Q ANO3_ENST00000525139.1_Missense_Mutation_p.R931Q|ANO3_ENST00000531568.1_Missense_Mutation_p.R801Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R931Q NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 947 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GACCGAATACGACGAGAGAAG 0.413000 19 3 0 0 0.00074312 0 0 RYR2 6262 broad.mit.edu 37 1 237774182 237774182 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:237774182C>T ENST00000366574.2 + 36 5121 c.4804C>T c.(4804-4806)Cag>Tag p.Q1602* RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q1586*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q1600* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1602 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) AATGCCCAACCAGTTTTTGAA 0.537000 16 7 0 0 0.000566183 0 0 ZNF831 128611 broad.mit.edu 37 20 57769222 57769222 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:57769222G>A ENST00000371030.2 + 1 3148 c.3148G>A c.(3148-3150)Gag>Aag p.E1050K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1050 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGCTCCCAGGGAGGCTACCTC 0.637000 6 5 0 0 0.00116845 0 0 DEFB119 245932 broad.mit.edu 37 20 29976959 29976959 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:29976959G>A ENST00000376315.2 - 2 135 c.136C>T c.(136-138)Cgt>Tgt p.R46C DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron NM_001271209.1|NM_153323.4 NP_001258138.1|NP_697018.1 Q8N690 DB119_HUMAN defensin, beta 119 52 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CACCGTTTACGATTTCGGCAG 0.458000 50 64 0 0 0.000781405 0 0 ATP13A4 84239 broad.mit.edu 37 3 193207550 193207550 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:193207550G>A ENST00000342695.4 - 7 1029 c.707C>T c.(706-708)tCc>tTc p.S236F ATP13A4_ENST00000295548.3_Missense_Mutation_p.S236F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.S236F NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 236 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAAAGATATGGAAATTATGGA 0.294000 44 92 0 0 0.000781405 0 0 LAMP5 24141 broad.mit.edu 37 20 9496978 9496978 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:9496978G>A ENST00000246070.2 + 4 937 c.445G>A c.(445-447)Gag>Aag p.E149K LAMP5_ENST00000427562.2_Missense_Mutation_p.E105K NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 149 integral to membrane CGACTCCTCGGAGAAAACCCA 0.577000 29 43 0 0 0.00127121 0 0 FOXG1 2290 broad.mit.edu 37 14 29237249 29237249 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:29237249G>A ENST00000382535.3 + 2 1133 c.764G>A c.(763-765)tGg>tAg p.W255* FOXG1_ENST00000313071.4_Nonsense_Mutation_p.W255* P55316 FOXG1_HUMAN forkhead box G1 255 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGCAACTACTGGATGCTGGAC 0.657000 11 24 0 0 0.000978159 0 0 DDX17 10521 broad.mit.edu 37 22 38884057 38884057 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:38884057T>C ENST00000396821.3 - 12 1610 c.1511A>G c.(1510-1512)cAc>cGc p.H504R DDX17_ENST00000381633.3_Missense_Mutation_p.H427R|DDX17_ENST00000444597.1_5'UTR NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 425 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GCCAATACGGTGCACATAATC 0.478000 33 54 0 0 0.000409698 0 0 ILDR1 286676 broad.mit.edu 37 3 121707255 121707255 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:121707255C>T ENST00000273691.3 - 7 1573 c.1467_splice c.e7-1 p.E490_splice ILDR1_ENST00000344209.5_Splice_Site_p.E534_splice|ILDR1_ENST00000393631.1_Splice_Site_p.E445_splice|ILDR1_ENST00000462014.1_Splice_Site_p.E502_splice NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 534 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CTGTCTTTCTCCTGGGAAATA 0.433000 7 18 0 0 0.000673444 0 0 ZNF385D 79750 broad.mit.edu 37 3 21552419 21552419 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:21552419C>A ENST00000281523.2 - 4 891 c.373G>T c.(373-375)Gac>Tac p.D125Y ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 125 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TTTGCGCTGTCCTTGGCAGTT 0.463000 25 27 3.01185e-09 1.91831e-08 0.000586117 1 0 TAOK1 57551 broad.mit.edu 37 17 27809280 27809280 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:27809280C>T ENST00000261716.3 + 8 1148 c.629C>T c.(628-630)tCt>tTt p.S210F TAOK1_ENST00000536202.1_Missense_Mutation_p.S210F NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 210 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) GATGTGTGGTCTCTTGGAATA 0.318000 48 81 0 0 0.000781405 0 0 KIF21B 23046 broad.mit.edu 37 1 200969524 200969524 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:200969524C>T ENST00000332129.2 - 11 1995 c.1679G>A c.(1678-1680)aGg>aAg p.R560K KIF21B_ENST00000360529.5_Missense_Mutation_p.R560K|KIF21B_ENST00000422435.2_Missense_Mutation_p.R560K|KIF21B_ENST00000461742.2_Missense_Mutation_p.R560K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 560 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCACCTCTTCCTCCGCTGCCT 0.662000 41 105 0 0 0.000781405 0 0 PAK7 57144 broad.mit.edu 37 20 9561479 9561479 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:9561479C>T ENST00000378429.3 - 5 849 c.303G>A c.(301-303)agG>agA p.R101R PAK7_ENST00000353224.5_Silent_p.R101R|PAK7_ENST00000378423.1_Silent_p.R101R NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 101 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGCTTTCTTTCCTTAGGGAGT 0.532000 33 51 0 0 0.00178596 0 0 BCCIP 56647 broad.mit.edu 37 10 127520013 127520013 + Nonsense_Mutation SNP C C T rs141189146 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:127520013C>T ENST00000299130.3 + 5 448 c.436C>T c.(436-438)Caa>Taa p.Q146* BCCIP_ENST00000429863.2_Nonsense_Mutation_p.Q116*|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Nonsense_Mutation_p.Q146*|BCCIP_ENST00000278100.6_Nonsense_Mutation_p.Q146* NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 146 Interaction with BRCA2. cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGAACAAATTCAAGAGTTGGT 0.423000 26 38 0 0 0.001512 0 0 CREB3L4 148327 broad.mit.edu 37 1 153941080 153941080 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:153941080G>A ENST00000368607.3 + 2 345 c.79G>A c.(79-81)Gag>Aag p.E27K CREB3L4_ENST00000368601.1_Missense_Mutation_p.E27K|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E27K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E27K|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E27K|CREB3L4_ENST00000405694.3_5'UTR NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 27 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATCCGTCCTGGAGCTGGGACT 0.622000 31 65 0 0 0.000339439 0 0 OR14J1 442191 broad.mit.edu 37 6 29275391 29275391 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29275391C>T ENST00000377160.2 + 1 989 c.925C>T c.(925-927)Cct>Tct p.P309S NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 GGAAGAGCTTCCTCAGAGAAA 0.388000 33 26 0 0 0.000339439 0 0 HSD17B6 8630 broad.mit.edu 37 12 57178749 57178749 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:57178749G>A ENST00000554643.1 + 5 1034 c.685G>A c.(685-687)Gaa>Aaa p.E229K HSD17B6_ENST00000322165.1_Missense_Mutation_p.E229K|HSD17B6_ENST00000555805.1_Missense_Mutation_p.E229K|HSD17B6_ENST00000555159.1_Missense_Mutation_p.E229K|HSD17B6_ENST00000554150.1_Missense_Mutation_p.E229K O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 229 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) AAGTTGGAAAGAAGCCCCCAA 0.423000 85 14 0 0 0.000781405 0 0 MYLK 4638 broad.mit.edu 37 3 123512611 123512611 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:123512611G>A ENST00000360772.3 - 5 456 c.78C>T c.(76-78)tcC>tcT p.S26S MYLK_ENST00000475616.1_Silent_p.S26S|MYLK_ENST00000360304.3_Silent_p.S26S|MYLK_ENST00000346322.5_Silent_p.S26S|MYLK_ENST00000359169.1_Silent_p.S26S Q15746 MYLK_HUMAN myosin light chain kinase 26 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAGGGGCATGGAGTCAACTC 0.547000 22 23 0 0 0.00188189 0 0 OR14I1 401994 broad.mit.edu 37 1 248845270 248845270 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248845270G>A ENST00000342623.3 - 1 359 c.336C>T c.(334-336)ttC>ttT p.F112F NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TGACAGTAAGGAAGGCCAGCT 0.507000 24 20 0 0 0.000375601 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040432 103040432 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:103040432G>A ENST00000264260.2 + 4 821 c.232G>A c.(232-234)Gac>Aac p.D78N IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 78 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGGTAGTAACGACCTATCTGA 0.438000 8 9 0 0 0.000274275 0 0 MGAM 8972 broad.mit.edu 37 7 141740634 141740634 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:141740634C>T ENST00000475668.2 + 21 2540 c.2486C>T c.(2485-2487)aCc>aTc p.T829I MGAM_ENST00000549489.2_Missense_Mutation_p.T829I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 829 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) CCAAATACAACCACTCTGGCC 0.463000 5 9 0 0 0.000157383 0 0 SEMA3F 6405 broad.mit.edu 37 3 50220638 50220638 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:50220638G>A ENST00000002829.3 + 11 1522 c.1038G>A c.(1036-1038)caG>caA p.Q346Q SEMA3F_ENST00000413852.1_Silent_p.Q247Q|SEMA3F_ENST00000434342.1_Silent_p.Q315Q NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 346 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TTGTCCAGCAGACCCAGGACG 0.662000 24 23 0 0 0.000878237 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31982865 31982865 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:31982865G>A ENST00000357886.4 - 3 515 c.362C>T c.(361-363)tCc>tTc p.S121F CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.S121F|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.S31F|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.S121F|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.S121F|CDK5RAP1_ENST00000473997.1_5'UTR Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 121 CDK5 activation inhibition.|MTTase N-terminal. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CTGTAAGATGGACCAGGCTAT 0.493000 54 79 0 0 0.000781405 0 0 SP6 80320 broad.mit.edu 37 17 45924965 45924965 + Missense_Mutation SNP C C G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:45924965C>G ENST00000536300.1 - 2 1162 c.831G>C c.(829-831)tgG>tgC p.W277C SP6_ENST00000342234.2_Missense_Mutation_p.W277C NM_001258248.1 NP_001245177.1 Q3SY56 SP6_HUMAN Sp6 transcription factor 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(5)|prostate(1)|skin(1) 8 CGCCGCTGTGCCAGCGCAGGT 0.662000 18 19 0 0 0.00074312 0 0 C5orf30 90355 broad.mit.edu 37 5 102612106 102612106 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:102612106G>A ENST00000319933.2 + 3 794 c.486G>A c.(484-486)agG>agA p.R162R C5orf30_ENST00000515669.1_Silent_p.R162R|C5orf30_ENST00000510890.1_Silent_p.R162R NM_033211.2 NP_149988.1 Q96GV9 CE030_HUMAN chromosome 5 open reading frame 30 162 NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18) Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762) AAGGTAAGAGGGCTCACTCCA 0.468000 20 21 0 0 0.000295444 0 0 GRM7 2917 broad.mit.edu 37 3 7620125 7620125 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:7620125G>A ENST00000486284.1 + 8 1806 c.1532G>A c.(1531-1533)tGg>tAg p.W511* GRM7_ENST00000389336.4_Nonsense_Mutation_p.W511*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.W511*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.W511*|GRM7_ENST00000357716.4_Nonsense_Mutation_p.W511*|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 511 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GACATGCAGTGGGGTAAAGGA 0.448000 4 11 0 0 0.00024832 0 0 OR6K6 128371 broad.mit.edu 37 1 158725383 158725383 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158725383G>A ENST00000368144.2 + 1 874 c.778G>A c.(778-780)Ggt>Agt p.G260S NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CTCAGCTGAAGGTCATCACAA 0.473000 34 74 0 0 0.000953801 0 0 POLA2 23649 broad.mit.edu 37 11 65046372 65046372 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:65046372G>A ENST00000265465.3 + 6 1164 c.633G>A c.(631-633)caG>caA p.Q211Q POLA2_ENST00000541089.1_Silent_p.Q3Q NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 211 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CCATGTTTCAGAAGCTCCCAG 0.468000 39 55 0 0 0.00148497 0 0 CELF4 56853 broad.mit.edu 37 18 34850794 34850794 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:34850794G>A ENST00000420428.2 - 8 1431 c.1036C>T c.(1036-1038)Cca>Tca p.P346S CELF4_ENST00000361795.5_Missense_Mutation_p.P344S|CELF4_ENST00000601019.1_Missense_Mutation_p.P344S|CELF4_ENST00000591287.1_Missense_Mutation_p.P345S|CELF4_ENST00000603232.1_Missense_Mutation_p.P345S|CELF4_ENST00000588597.1_Missense_Mutation_p.P335S|CELF4_ENST00000591282.1_Missense_Mutation_p.P346S|CELF4_ENST00000412753.1_Missense_Mutation_p.P345S|CELF4_ENST00000334919.5_Missense_Mutation_p.P336S NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 346 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 TTGGCCTGTGGGGGGAGGCCG 0.612000 13 37 0 0 0.000219431 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45644185 45644185 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:45644185G>A ENST00000427229.2 + 0 356 ACTCCTGAAGGAAACTTTACT 0.398000 19 47 0 0 0.00121646 0 0 KCNH2 3757 broad.mit.edu 37 7 150648096 150648096 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:150648096G>A ENST00000392968.2 - 6 2890 c.1770C>T c.(1768-1770)ttC>ttT p.F590F KCNH2_ENST00000330883.4_Silent_p.F346F|KCNH2_ENST00000262186.5_Silent_p.F686F|KCNH2_ENST00000430723.3_Silent_p.F686F Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 686 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGATCTGGTGGAAGCGGATGA 0.632000 16 21 0 0 0.000308642 0 0 MPP7 143098 broad.mit.edu 37 10 28409259 28409259 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:28409259C>T ENST00000337532.5 - 11 1027 c.751G>A c.(751-753)Gaa>Aaa p.E251K MPP7_ENST00000375719.3_Missense_Mutation_p.E251K|MPP7_ENST00000375732.1_Missense_Mutation_p.E251K|MPP7_ENST00000540098.1_Missense_Mutation_p.E251K|MPP7_ENST00000445954.2_Missense_Mutation_p.E126K NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 251 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGCCCAGCTTCCTTACATGGA 0.383000 18 44 0 0 0.00152264 0 0 F13B 2165 broad.mit.edu 37 1 197029611 197029611 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:197029611G>A ENST00000367412.1 - 5 733 c.690C>T c.(688-690)acC>acT p.T230T NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 230 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CTTCTTCATAGGTTTGCTTTA 0.284000 15 12 0 0 0.000219431 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986374 51986374 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:51986374C>T ENST00000396477.4 + 4 798 c.777C>T c.(775-777)tcC>tcT p.S259S CEACAM18_ENST00000451626.1_Silent_p.S320S NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 320 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCTGCTATTCCTTCCTGGATC 0.522000 63 75 0 0 0.000781405 0 0 CWF19L2 143884 broad.mit.edu 37 11 107299736 107299736 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:107299736G>A ENST00000282251.5 - 8 1249 c.1222C>T c.(1222-1224)Ccc>Tcc p.P408S CWF19L2_ENST00000433523.1_Missense_Mutation_p.P408S NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) 408 catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TTCTTGGTGGGTTTTCTAAAA 0.418000 30 11 0 0 0.000339439 0 0 ANXA9 8416 broad.mit.edu 37 1 150955615 150955615 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:150955615C>T ENST00000368947.4 + 3 510 c.34C>T c.(34-36)Ctc>Ttc p.L12F ANXA9_ENST00000474997.1_Intron NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 12 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCACCGTCCCTCACCCAGGA 0.582000 45 33 0 0 0.000781405 0 0 GPR6 2830 broad.mit.edu 37 6 110300401 110300401 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:110300401G>A ENST00000414000.2 + 3 370 c.131G>A c.(130-132)gGg>gAg p.G44E GPR6_ENST00000275169.3_Missense_Mutation_p.G29E P46095 GPR6_HUMAN G protein-coupled receptor 6 29 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) acagcagcaggggggccggAC 0.721000 24 1 0 0 0.00047179 0 0 LAMA1 284217 broad.mit.edu 37 18 7024406 7024406 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:7024406G>T ENST00000389658.3 - 18 2555 c.2462C>A c.(2461-2463)cCg>cAg p.P821Q NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 821 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGTAGCCCGGGGCACACCA 0.418000 21 27 3.08376e-08 1.95987e-07 0.00047179 1 0 L1TD1 54596 broad.mit.edu 37 1 62675517 62675517 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:62675517C>T ENST00000498273.1 + 4 1366 c.1071C>T c.(1069-1071)ttC>ttT p.F357F NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 357 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 GCTTGAGCTTCCTATTTCTTA 0.378000 64 97 0 0 0.000781405 0 0 CMA1 1215 broad.mit.edu 37 14 24976598 24976598 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:24976598C>T ENST00000250378.3 - 2 202 c.173G>A c.(172-174)cGg>cAg p.R58Q CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 58 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CACAAAGTTCCGTCTTATAAG 0.478000 35 36 0 0 0.00195071 0 0 MCTP2 55784 broad.mit.edu 37 15 94882563 94882563 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:94882563C>T ENST00000357742.4 + 4 682 c.682C>T c.(682-684)Ctg>Ttg p.L228L MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Silent_p.L228L|MCTP2_ENST00000451018.3_Silent_p.L228L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 228 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TGGGAAGACGCTGTACAAAAG 0.358000 54 70 0 0 0.000781405 0 0 CNTN5 53942 broad.mit.edu 37 11 100141950 100141950 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:100141950G>A ENST00000524871.1 + 18 2581 c.2291G>A c.(2290-2292)cGa>cAa p.R764Q CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R764Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R690Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.R764Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.R764Q NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 764 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACCCCATCTCGAATGATCCGC 0.448000 12 17 0 0 0.000978159 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216071 140216071 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140216071C>T ENST00000525929.1 + 1 2103 c.2103C>T c.(2101-2103)atC>atT p.I701I PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.I701I|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACCTGATCATCGCCATCT 0.627000 38 39 0 0 0.000781405 0 0 SULT1B1 27284 broad.mit.edu 37 4 70615468 70615468 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:70615468G>A ENST00000310613.2 - 4 643 c.346C>T c.(346-348)Cct>Tct p.P116S NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 116 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 AAAGATTTAGGAAGAAGATCA 0.368000 27 66 0 0 0.00058488 0 0 TENM2 57451 broad.mit.edu 37 5 167674492 167674492 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:167674492G>A ENST00000519204.1 + 26 6303 c.6185G>A c.(6184-6186)gGc>gAc p.G2062D TENM2_ENST00000403607.2_Missense_Mutation_p.G2007D|TENM2_ENST00000520394.1_Missense_Mutation_p.G1944D|TENM2_ENST00000518659.1_Missense_Mutation_p.G2183D|TENM2_ENST00000545108.1_Missense_Mutation_p.G2182D teneurin transmembrane protein 2 GACAGCATGGGCAGGGTGATC 0.557000 12 23 0 0 0.000978159 0 0 DCAF11 80344 broad.mit.edu 37 14 24587638 24587638 + Missense_Mutation SNP C C T rs151306695 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:24587638C>T ENST00000446197.3 + 7 1346 c.619C>T c.(619-621)Cgt>Tgt p.R207C DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396941.4_Missense_Mutation_p.R181C|DCAF11_ENST00000396936.1_Missense_Mutation_p.R107C|DCAF11_ENST00000559115.1_Missense_Mutation_p.R207C NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 207 R -> H (in dbSNP:rs3825584). CUL4 RING ubiquitin ligase complex protein binding TGGCCGTTTCCGTAAATTCAA 0.488000 69 69 0 0 0.000781405 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37438604 37438604 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:37438604C>T ENST00000374660.1 + 10 1500 c.1401C>T c.(1399-1401)ttC>ttT p.F467F ANKRD30A_ENST00000602533.1_Silent_p.F467F|ANKRD30A_ENST00000361713.1_Silent_p.F467F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 523 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CATCTGCCTTCAAGGTATTTA 0.299000 30 37 0 0 0.000409698 0 0 CPXM2 119587 broad.mit.edu 37 10 125639769 125639769 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:125639769C>T ENST00000241305.3 - 2 515 c.361G>A c.(361-363)Gat>Aat p.D121N CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 121 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CTGTGATCATCGTTGGCAGCC 0.507000 69 99 0 0 0.000781405 0 0 KLHL13 90293 broad.mit.edu 37 X 117043976 117043976 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:117043976G>A ENST00000371876.1 - 4 2922 c.501C>T c.(499-501)ttC>ttT p.F167F KLHL13_ENST00000545703.1_Silent_p.F176F|KLHL13_ENST00000541812.1_Silent_p.F202F|KLHL13_ENST00000540167.1_Silent_p.F202F|KLHL13_ENST00000262820.3_Silent_p.F218F|KLHL13_ENST00000539496.1_Silent_p.F221F|KLHL13_ENST00000371878.1_Silent_p.F167F|KLHL13_ENST00000371882.1_Silent_p.F167F|KLHL13_ENST00000469946.1_Silent_p.F167F Q9P2N7 KLH13_HUMAN kelch-like family member 13 218 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCTTCAAGACGAAACTGTTAA 0.418000 25 5 0 0 0.00047179 0 0 SORBS2 8470 broad.mit.edu 37 4 186545620 186545620 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:186545620G>A ENST00000431808.1 - 14 1514 c.951C>T c.(949-951)tcC>tcT p.S317S SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.S417S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.S317S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.S221S|SORBS2_ENST00000449407.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 317 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AACTGCAAAGGGATGGACATA 0.478000 29 39 0 0 0.000409698 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765453 18765453 + Silent SNP C C T rs151116969 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:18765453C>T ENST00000304081.4 - 5 892 c.792G>A c.(790-792)agG>agA p.R264R NT5C1B_ENST00000600945.1_Silent_p.R324R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R324R|NT5C1B_ENST00000359846.2_Silent_p.R324R NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB p.R324R(1) endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CGTAGATTTTCCTGCCGTCCA 0.562000 54 69 0 0 0.000781405 0 0 GPR179 440435 broad.mit.edu 37 17 36485008 36485008 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:36485008C>T ENST00000342292.4 - 11 4464 c.4444G>A c.(4444-4446)Gag>Aag p.E1482K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1482 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCATCCAGCTCCCAGGGACAG 0.512000 70 72 0 0 0.000781405 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518410 161518410 + Silent SNP C C T rs147185130 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:161518410C>T ENST00000367969.3 - 3 411 c.228G>A c.(226-228)aaG>aaA p.K76K FCGR3A_ENST00000443193.1_Silent_p.K75K|FCGR3A_ENST00000436743.1_Silent_p.K40K|FCGR3A_ENST00000540048.1_Silent_p.K40K|FCGR3A_ENST00000476031.1_5'UTR NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 40 Ig-like C2-type 1. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCACACTGTCCTTCTCGAGCA 0.552000 56 124 0 0 0.000781405 0 0 LYST 1130 broad.mit.edu 37 1 235860522 235860522 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:235860522G>A ENST00000389794.3 - 46 10599 c.10425C>T c.(10423-10425)tcC>tcT p.S3475S LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3475S Q99698 LYST_HUMAN lysosomal trafficking regulator 3475 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GAGCACTGGGGGAACCCACGT 0.473000 25 50 0 0 0.000878237 0 0 GLRA3 8001 broad.mit.edu 37 4 175649849 175649849 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:175649849C>T ENST00000274093.3 - 4 770 c.267_splice c.e4-1 p.D90_splice GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Splice_Site_p.D90_splice NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 90 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) ACTCTGTAATCCTATGATAAA 0.398000 11 25 0 0 0.00136819 0 0 HEATR2 54919 broad.mit.edu 37 7 780536 780536 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:780536C>T ENST00000297440.6 + 3 881 c.861C>T c.(859-861)atC>atT p.I287I HEATR2_ENST00000313147.5_Silent_p.I287I|HEATR2_ENST00000438961.1_3'UTR NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 287 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) ACAAGCTCATCCCTCTGCTGC 0.637000 53 68 0 0 0.000781405 0 0 BCL2L10 10017 broad.mit.edu 37 15 52404571 52404571 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:52404571C>T ENST00000260442.3 - 1 401 c.353G>A c.(352-354)tGg>tAg p.W118* BCL2L10_ENST00000561198.1_Nonsense_Mutation_p.W118* NM_020396.2 NP_065129.1 Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 108 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) CCACTTCTTCCACCGGGCGGT 0.711000 6 6 0 0 0.000274275 0 0 MAST4 375449 broad.mit.edu 37 5 66398379 66398379 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:66398379C>T ENST00000404260.3 + 9 1403 c.1095C>T c.(1093-1095)ccC>ccT p.P365P MAST4_ENST00000261569.7_Silent_p.P168P|MAST4_ENST00000490016.2_Silent_p.P173P|MAST4_ENST00000405643.1_Silent_p.P183P|MAST4_ENST00000403625.2_Silent_p.P362P|MAST4_ENST00000403666.1_Silent_p.P173P O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 365 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GACGTTCTCCCGCCTGCTGTG 0.383000 33 54 0 0 0.00128727 0 0 DDAH1 23576 broad.mit.edu 37 1 85817207 85817207 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:85817207G>A ENST00000284031.8 - 3 553 c.459C>T c.(457-459)atC>atT p.I153I RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000542148.1_Silent_p.I53I|DDAH1_ENST00000535924.2_Silent_p.I50I|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Silent_p.I153I|DDAH1_ENST00000426972.3_Silent_p.I60I|DDAH1_ENST00000483110.1_5'UTR NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 153 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) TATCAGCCAAGATTTCAGCAC 0.383000 26 44 0 0 0.00178596 0 0 NUFIP1 26747 broad.mit.edu 37 13 45563205 45563205 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:45563205A>G ENST00000379161.4 - 1 413 c.367T>C c.(367-369)Tct>Cct p.S123P RP11-321C24.1_ENST00000437748.2_lincRNA NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 123 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) CTATCAGAAGACTGTCTCCAA 0.537000 14 25 0 0 0.00074312 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400818 49400818 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:49400818G>A ENST00000374201.3 - 16 2376 c.2074C>T c.(2074-2076)Cag>Tag p.Q692* FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.Q667*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.Q660* NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 692 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GCAGCACCCTGAAGCCTGGAT 0.537000 35 37 0 0 0.00128727 0 0 TPO 7173 broad.mit.edu 37 2 1426834 1426834 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:1426834C>T ENST00000345913.4 + 3 203 c.112C>T c.(112-114)Cgt>Tgt p.R38C TPO_ENST00000382269.3_Missense_Mutation_p.R38C|TPO_ENST00000382201.3_Missense_Mutation_p.R38C|TPO_ENST00000337415.3_Missense_Mutation_p.R38C|TPO_ENST00000329066.4_Missense_Mutation_p.R38C|TPO_ENST00000539820.1_Missense_Mutation_p.R38C|TPO_ENST00000382198.1_Missense_Mutation_p.R38C|TPO_ENST00000346956.3_Missense_Mutation_p.R38C|TPO_ENST00000349624.3_Missense_Mutation_p.R38C|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 38 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGAGGAGTCTCGTGTCTCTAG 0.562000 10 26 0 0 0.000442599 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92647677 92647677 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:92647677C>T ENST00000318445.6 + 4 1128 c.914C>T c.(913-915)tCc>tTc p.S305F SLCO3A1_ENST00000424469.2_Missense_Mutation_p.S305F|SLCO3A1_ENST00000555549.1_3'UTR NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 305 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GCCATGCTCTCCGAAAGAGAA 0.587000 23 27 0 0 0.000295444 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886022 88886022 + Nonsense_Mutation SNP G G A rs148443990 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:88886022G>A ENST00000319675.3 - 1 274 c.178C>T c.(178-180)Cag>Tag p.Q60* NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 60 p.Q60*(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CTATGAATCTGGACCTTTTTC 0.502000 24 41 0 0 0.000586117 0 0 TMEM101 84336 broad.mit.edu 37 17 42089457 42089457 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:42089457G>A ENST00000589334.1 - 5 928 c.613C>T c.(613-615)Cag>Tag p.Q205* TMEM101_ENST00000206380.3_Nonsense_Mutation_p.Q205*|TMEM101_ENST00000542039.1_Nonsense_Mutation_p.Q147* Q96IK0 TM101_HUMAN transmembrane protein 101 205 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) GCCAGGATCTGGGCAGCGAGG 0.567000 22 30 0 0 0.000375601 0 0 DAPK3 1613 broad.mit.edu 37 19 3961032 3961032 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:3961032G>A ENST00000545797.2 - 7 1000 c.757C>T c.(757-759)Cgc>Tgc p.R253C DAPK3_ENST00000301264.3_Missense_Mutation_p.R253C O43293 DAPK3_HUMAN death-associated protein kinase 3 253 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGCCGGCGAATGAAGTCC 0.622000 21 35 0 0 0.000720815 0 0 ERC2 26059 broad.mit.edu 37 3 56468558 56468558 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:56468558C>T ENST00000288221.6 - 2 733 c.478G>A c.(478-480)Gag>Aag p.E160K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 160 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) AGGTCATTCTCTCTCTGCAGT 0.483000 80 100 0 0 0.000781405 0 0 RAB27B 5874 broad.mit.edu 37 18 52556538 52556538 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:52556538G>A ENST00000262094.5 + 6 1072 c.551G>A c.(550-552)cGa>cAa p.R184Q RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 184 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity p.R184Q(1) large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) ATCATGAAGCGAATGGAACAG 0.418000 7 12 0 0 0.000157383 0 0 ZNF83 55769 broad.mit.edu 37 19 53117670 53117670 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53117670T>A ENST00000597597.1 - 2 2401 c.148A>T c.(148-150)Agt>Tgt p.S50C ZNF83_ENST00000544146.1_Missense_Mutation_p.S50C|ZNF83_ENST00000541777.2_Missense_Mutation_p.S50C|ZNF83_ENST00000391789.4_Missense_Mutation_p.S50C|ZNF83_ENST00000536937.1_Missense_Mutation_p.S50C|ZNF83_ENST00000545872.1_Missense_Mutation_p.S50C|ZNF83_ENST00000301096.3_Missense_Mutation_p.S50C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 50 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) ACTAAGGAACTACTGTTGACA 0.363000 21 40 0 0 0.00152264 0 0 RP1 6101 broad.mit.edu 37 8 55541975 55541975 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:55541975G>A ENST00000220676.1 + 4 5681 c.5533G>A c.(5533-5535)Gaa>Aaa p.E1845K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1845 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) CTGTGCCAAGGAAAGAATAGC 0.403000 17 19 0 0 0.000566183 0 0 C7 730 broad.mit.edu 37 5 40979906 40979906 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:40979906C>T ENST00000313164.9 + 17 2604 c.2245C>T c.(2245-2247)Cac>Tac p.H749Y C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 749 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GCATGTTCTCCACTGTCAGGG 0.468000 20 27 0 0 0.00121646 0 0 RELL2 285613 broad.mit.edu 37 5 141019704 141019704 + Nonsense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:141019704G>T ENST00000297164.3 + 5 1921 c.721G>T c.(721-723)Gga>Tga p.G241* FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000518856.1_Nonsense_Mutation_p.G175*|RELL2_ENST00000521367.1_Nonsense_Mutation_p.G175*|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000444782.1_Nonsense_Mutation_p.G241*|FCHSD1_ENST00000435817.2_3'UTR NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 241 integral to membrane|plasma membrane p.G241*(1) large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGAATGGAGGACTCAGGGA 0.667000 11 16 3.07112e-06 1.94482e-05 0.000978159 1 0 PRPF18 8559 broad.mit.edu 37 10 13656021 13656021 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:13656021C>T ENST00000378572.3 + 8 887 c.727C>T c.(727-729)Cct>Tct p.P243S NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 243 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 TCAGAATCTTCCTGCTGATAT 0.279000 16 21 0 0 0.000308642 0 0 FMNL1 752 broad.mit.edu 37 17 43321209 43321209 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:43321209C>T ENST00000331495.3 + 18 2601 c.2265C>T c.(2263-2265)ttC>ttT p.F755F FMNL1_ENST00000587489.1_Silent_p.F333F|FMNL1_ENST00000328118.3_Silent_p.F755F NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 755 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TGATGCGCTTCCTGCCCACAG 0.602000 17 12 0 0 0.00121646 0 0 LIPF 8513 broad.mit.edu 37 10 90427426 90427426 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:90427426A>T ENST00000394375.3 + 4 349 c.236A>T c.(235-237)aAa>aTa p.K79I LIPF_ENST00000355843.2_Missense_Mutation_p.K69I|LIPF_ENST00000238983.4_Missense_Mutation_p.K69I NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 69 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TATGGGAAGAAAAATTCAGGG 0.353000 52 65 0 0 0.000781405 0 0 UNC79 57578 broad.mit.edu 37 14 94084570 94084570 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:94084570C>T ENST00000553484.1 + 30 4477 c.4323C>T c.(4321-4323)atC>atT p.I1441I UNC79_ENST00000393151.2_Silent_p.I1419I|UNC79_ENST00000555664.1_Silent_p.I1419I|UNC79_ENST00000256339.4_Silent_p.I1242I Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1419 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCAGCAAGATCCTGCTGCATC 0.438000 31 25 0 0 0.000814825 0 0 BCMO1 53630 broad.mit.edu 37 16 81323952 81323952 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:81323952G>A ENST00000258168.2 + 11 1875 c.e11-1 BCMO1_ENST00000425577.2_Splice_Site NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TTTCCCTAAAGGAGTAATCTT 0.438000 28 13 0 0 0.000409698 0 0 CACNA1E 777 broad.mit.edu 37 1 181750643 181750643 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:181750643C>T ENST00000526775.1 + 38 5456 c.5291C>T c.(5290-5292)tCc>tTc p.S1764F CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1734F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1783F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1390F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S1764F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S1783F|CACNA1E_ENST00000358338.5_Intron NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1783 EF-hand. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGATGTCCCTCCAAAGTGGCA 0.532000 7 5 0 0 0.000442599 0 0 OR7G2 390882 broad.mit.edu 37 19 9213580 9213580 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9213580G>A ENST00000305456.2 - 1 402 c.403C>T c.(403-405)Ctc>Ttc p.L135F NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GCTGCAAGGAGACAATTTTCC 0.507000 26 28 0 0 0.000720815 0 0 ATP2C2 9914 broad.mit.edu 37 16 84474536 84474536 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:84474536C>T ENST00000416219.2 + 14 1372 c.1283C>T c.(1282-1284)tCc>tTc p.S428F ATP2C2_ENST00000262429.4_Missense_Mutation_p.S428F|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 428 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 AAGGAATTTTCCAATGTCTCA 0.498000 28 12 0 0 0.001512 0 0 RBM46 166863 broad.mit.edu 37 4 155719262 155719262 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:155719262G>A ENST00000510397.1 + 3 630 c.451G>A c.(451-453)Gaa>Aaa p.E151K RBM46_ENST00000514866.1_Missense_Mutation_p.E151K|RBM46_ENST00000281722.3_Missense_Mutation_p.E151K NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 151 RRM 2. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) TATTCCCAAGGAAAAGAAGAA 0.328000 32 50 0 0 0.00058488 0 0 SLC26A4 5172 broad.mit.edu 37 7 107350632 107350632 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:107350632C>T ENST00000265715.3 + 19 2447 c.2223C>T c.(2221-2223)tcC>tcT p.S741S SLC26A4_ENST00000544569.1_Silent_p.S328S|SLC26A4_ENST00000543100.1_Silent_p.S310S|SLC26A4_ENST00000541474.1_Silent_p.S302S NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 741 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GTCAAGGTTCCATTTTAGAAA 0.348000 Pendred syndrome 15 24 0 0 0.000958276 0 0 SCD5 79966 broad.mit.edu 37 4 83557909 83557909 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:83557909C>T ENST00000319540.4 - 4 956 c.637G>A c.(637-639)Gga>Aga p.G213R NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 213 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) AGACTCTCTCCCCAGATGTAC 0.532000 13 16 0 0 0.00185496 0 0 KIF26A 26153 broad.mit.edu 37 14 104641757 104641757 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:104641757C>T ENST00000315264.7 + 11 2593 c.2215C>T c.(2215-2217)Ccc>Tcc p.P739S KIF26A_ENST00000423312.2_Missense_Mutation_p.P878S Q9ULI4 KI26A_HUMAN kinesin family member 26A 878 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGGCCGGAAGCCCTCGCCACC 0.706000 6 4 0 0 8.12818e-05 0 0 IDUA 3425 broad.mit.edu 37 4 995528 995528 + Silent SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:995528G>T ENST00000453894.1 + 5 598 c.510G>T c.(508-510)cgG>cgT p.R170R IDUA_ENST00000514224.1_Silent_p.R85R|IDUA_ENST00000247933.4_Silent_p.R217R P35475 IDUA_HUMAN iduronidase, alpha-L- 217 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CCGCCCTGCGGCTGGGAGGCC 0.711000 6 9 1.06961e-07 6.78808e-07 0.000157383 1 0 MYH7B 57644 broad.mit.edu 37 20 33578807 33578807 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:33578807G>A ENST00000262873.7 + 22 2284 c.2191_splice c.e22-1 p.G731_splice NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 689 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TCACGTCCAGGGGTCATGGAT 0.607000 16 29 0 0 0.00074312 0 0 NLRP13 126204 broad.mit.edu 37 19 56423233 56423233 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:56423233G>A ENST00000588751.1 - 5 1974 c.1950C>T c.(1948-1950)ttC>ttT p.F650F NLRP13_ENST00000342929.3_Silent_p.F650F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 650 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCTTCTTTGTGAAGTCTTCCT 0.423000 32 54 0 0 0.000409698 0 0 ARMCX5 64860 broad.mit.edu 37 X 101858025 101858025 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:101858025T>C ENST00000604957.1 + 1 3578 c.956T>C c.(955-957)cTt>cCt p.L319P ARMCX5_ENST00000246174.2_Missense_Mutation_p.L319P|ARMCX5_ENST00000537008.1_Missense_Mutation_p.L319P|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.L319P|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.L319P|ARMCX5_ENST00000536530.1_Missense_Mutation_p.L319P NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 319 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 GTTGCCCTCCTTAAGTTAACT 0.398000 19 2 0 0 0.000958276 0 0 ITGA10 8515 broad.mit.edu 37 1 145532832 145532832 + Splice_Site SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:145532832T>C ENST00000369304.3 + 10 1324 c.e10+2 ITGA10_ENST00000539363.1_Splice_Site|ITGA10_ENST00000538811.1_Splice_Site NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CGGCTAAAGGTTGGACAGATT 0.478000 41 103 0 0 0.000680045 0 0 PDE11A 50940 broad.mit.edu 37 2 178534251 178534251 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:178534251C>T ENST00000286063.5 - 18 2849 c.2532G>A c.(2530-2532)cgG>cgA p.R844R PDE11A_ENST00000389683.3_Silent_p.R400R|PDE11A_ENST00000449286.2_Silent_p.R486R|PDE11A_ENST00000450799.2_Silent_p.R35R|PDE11A_ENST00000358450.4_Silent_p.R594R|PDE11A_ENST00000409504.1_Silent_p.R486R NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 844 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CTAATCTCTCCCGATCTCCTT 0.353000 Primary Pigmented Nodular Adrenocortical Disease, Familial 29 68 0 0 0.000409698 0 0 TRAC 28755 broad.mit.edu 37 14 23020935 23020935 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:23020935G>A ENST00000478163.3 + 0 812 ATGTTGTGAGGGGTTTATTTT 0.468000 11 21 0 0 0.000308642 0 0 SIRT5 23408 broad.mit.edu 37 6 13612059 13612059 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:13612059G>A ENST00000606117.1 + 10 1191 c.895G>A c.(895-897)Gaa>Aaa p.E299K SIRT5_ENST00000397350.2_Missense_Mutation_p.E191K|SIRT5_ENST00000359782.3_Missense_Mutation_p.E281K NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 299 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GACTCTTCCTGAAGCCCTTGC 0.423000 133 340 0 0 0.000781405 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112036 64112036 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64112036G>A ENST00000356786.5 + 14 2067 c.2023G>A c.(2023-2025)Gga>Aga p.G675R CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 675 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCTGGCCACGGGACAAGCAGA 0.642000 12 5 0 0 0.00136819 0 0 AGFG2 3268 broad.mit.edu 37 7 100162594 100162594 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:100162594A>G ENST00000300176.4 + 12 1548 c.1426A>G c.(1426-1428)Acc>Gcc p.T476A AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 476 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAAACCTCCAACCACCAACCC 0.532000 75 130 0 0 0.000781405 0 0 UVSSA 57654 broad.mit.edu 37 4 1369270 1369270 + Silent SNP C C T rs143426578 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:1369270C>T ENST00000389851.4 + 9 1854 c.1407C>T c.(1405-1407)gaC>gaT p.D469D UVSSA_ENST00000507531.1_Silent_p.D469D|UVSSA_ENST00000512728.1_Silent_p.D20D|UVSSA_ENST00000511563.1_Silent_p.D20D|UVSSA_ENST00000511216.1_Silent_p.D469D NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 469 AGCTCCGGGACCACTTGCCTC 0.672000 15 34 0 0 0.000422831 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891566 18891566 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:18891566C>T ENST00000317658.3 + 1 522 c.364C>T c.(364-366)Ctg>Ttg p.L122L NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 122 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) AGTTGTTCTTCTGTGCGCCTT 0.378000 16 2 0 0 0.000566183 0 0 MYOG 4656 broad.mit.edu 37 1 203055032 203055032 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:203055032C>T ENST00000241651.4 - 1 132 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_002479.4 NP_002470.2 P15173 MYOG_HUMAN myogenin (myogenic factor 4) 20 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 AGGTAGTTTTCCCCATCATAG 0.617000 17 33 0 0 0.00152264 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202936 140202936 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140202936G>A ENST00000529859.1 + 1 1576 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E526K|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E526K|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCACGAGGAAGTGGAGCT 0.692000 45 79 0 0 0.000781405 0 0 ATP8B4 79895 broad.mit.edu 37 15 50189491 50189491 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:50189491G>T ENST00000284509.6 - 23 2836 c.2695C>A c.(2695-2697)Cag>Aag p.Q899K ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q899K NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 899 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTACCAACCTGGGCTGAGAAA 0.303000 6 70 0.00116845 0.00734654 0.00116845 1 0 GPR112 139378 broad.mit.edu 37 X 135431445 135431445 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:135431445G>A ENST00000394143.1 + 6 5871 c.5580G>A c.(5578-5580)atG>atA p.M1860I GPR112_ENST00000412101.1_Missense_Mutation_p.M1655I|GPR112_ENST00000394141.1_Missense_Mutation_p.M1655I|GPR112_ENST00000370652.1_Missense_Mutation_p.M1860I|GPR112_ENST00000287534.4_Missense_Mutation_p.M1797I NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1860 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) CATCCCAAATGGTTGAATTTC 0.438000 7 1 0 0 8.12818e-05 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217281010 217281010 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:217281010T>C ENST00000357276.4 + 4 1172 c.842T>C c.(841-843)aTg>aCg p.M281T SMARCAL1_ENST00000358207.5_Missense_Mutation_p.M281T NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 281 HARP 1. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AACTTCAGCATGAATGACTAT 0.433000 Schimke Immuno-Osseous Dysplasia 42 55 0 0 0.000781405 0 0 CENPF 1063 broad.mit.edu 37 1 214791977 214791977 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:214791977C>T ENST00000366955.3 + 4 589 c.421C>T c.(421-423)Cca>Tca p.P141S NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 141 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CTCTCTGAATCCATGCAATAC 0.388000 65 64 0 0 0.000781405 0 0 HP 3240 broad.mit.edu 37 16 72094666 72094666 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:72094666G>A ENST00000355906.5 + 7 1156 c.1098G>A c.(1096-1098)gaG>gaA p.E366E HP_ENST00000570083.1_Silent_p.E307E|HP_ENST00000398131.2_Silent_p.E307E|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_3'UTR|HP_ENST00000565574.1_Silent_p.E307E NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 366 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) ACCTGGAGGAGGACACCTGGT 0.517000 26 53 0 0 0.00106085 0 0 EMR1 2015 broad.mit.edu 37 19 6928251 6928251 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6928251A>G ENST00000381404.4 + 16 2192 c.2162A>G c.(2161-2163)aAg>aGg p.K721R EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000312053.4_Intron|EMR1_ENST00000450315.3_Intron NM_001256252.1 NP_001243181.1 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 763 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) AGCCTGGCGAAGTGTGTTCTG 0.493000 17 31 0 0 0.000422831 0 0 GPALPP1 55425 broad.mit.edu 37 13 45594490 45594490 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:45594490C>T ENST00000361121.2 + 7 766 c.731C>T c.(730-732)tCc>tTc p.S244F KIAA1704_ENST00000357537.3_Missense_Mutation_p.S74F|KIAA1704_ENST00000379151.4_Missense_Mutation_p.S244F|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 244 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) AGGAAGTCATCCAGTAAGAAA 0.299000 63 97 0 0 0.000781405 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390499 61390499 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:61390499G>A ENST00000544088.1 + 0 1107 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GGCAGCAGCAGCCACTGGGGA 0.493000 11 19 0 0 0.000978159 0 0 ZHX2 22882 broad.mit.edu 37 8 123965271 123965271 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:123965271C>T ENST00000314393.4 + 3 2356 c.1521C>T c.(1519-1521)gcC>gcT p.A507A NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 507 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AATCCCTTGCCAAAGACCAGT 0.567000 10 15 0 0 0.000442599 0 0 GTSF1 121355 broad.mit.edu 37 12 54856432 54856432 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:54856432C>T ENST00000552397.1 - 5 1218 c.322G>A c.(322-324)Gat>Aat p.D108N RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D108N|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR Q8WW33 GTSF1_HUMAN gametocyte specific factor 1 108 metal ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(1001;0.00452) TCACCTTTATCCCAGTCTTCA 0.423000 147 31 0 0 0.000781405 0 0 GLRA1 2741 broad.mit.edu 37 5 151271933 151271933 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:151271933G>A ENST00000274576.4 - 2 415 c.123C>T c.(121-123)ttC>ttT p.F41F GLRA1_ENST00000455880.2_Silent_p.F41F|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 41 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCTTATCCAGGAAATCCGAGG 0.498000 20 27 0 0 0.00152264 0 0 FGGY 55277 broad.mit.edu 37 1 59922748 59922748 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:59922748G>A ENST00000371218.4 + 6 854 c.670_splice c.e6+1 p.G224_splice FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Splice_Site_p.G136_splice|FGGY_ENST00000303721.7_Splice_Site_p.G224_splice NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 224 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) CAGCAAAATAGGTAAAAGAAT 0.368000 11 5 0 0 0.000978159 0 0 ADRA1A 148 broad.mit.edu 37 8 26623610 26623610 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:26623610C>T ENST00000354550.4 - 3 1525 c.1326G>A c.(1324-1326)gtG>gtA p.V442V ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron NM_033304.2 NP_150647.2 P35348 ADA1A_HUMAN adrenoceptor alpha 1A 0 S -> C (in Ref. 4; AAA93114). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) TCATAAAATTCACATGCTTGA 0.443000 28 46 0 0 0.00106085 0 0 TEP1 7011 broad.mit.edu 37 14 20873656 20873656 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20873656T>C ENST00000262715.5 - 4 864 c.824A>G c.(823-825)gAa>gGa p.E275G TEP1_ENST00000556935.1_Missense_Mutation_p.E275G NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 275 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ACGACAGATTTCAAAAATGGC 0.502000 21 26 0 0 0.00121646 0 0 ACTN3 89 broad.mit.edu 37 11 66323702 66323702 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:66323702G>A ENST00000513398.1 + 0 901 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 GGCTGAGCAGGTAAGGCGGCC 0.597000 21 34 0 0 0.00152264 0 0 GTF3C1 2975 broad.mit.edu 37 16 27519910 27519910 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:27519910A>T ENST00000356183.4 - 8 1208 c.1193T>A c.(1192-1194)cTa>cAa p.L398Q GTF3C1_ENST00000561623.1_Missense_Mutation_p.L398Q NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 398 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TCTTGCTTCTAGTTTTCCCAC 0.468000 39 42 0 0 0.00128727 0 0 MYH7B 57644 broad.mit.edu 37 20 33578806 33578806 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:33578806G>A ENST00000262873.7 + 22 2283 c.e22-1 NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTCACGTCCAGGGGTCATGGA 0.602000 16 29 0 0 0.000958276 0 0 TNPO3 23534 broad.mit.edu 37 7 128641228 128641228 + Missense_Mutation SNP G G A rs11538883 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:128641228G>A ENST00000393245.1 - 6 1130 c.757C>T c.(757-759)Ctc>Ttc p.L253F TNPO3_ENST00000471234.1_Missense_Mutation_p.L253F|TNPO3_ENST00000265388.5_Missense_Mutation_p.L253F|TNPO3_ENST00000471166.1_Missense_Mutation_p.L253F|TNPO3_ENST00000482320.1_Missense_Mutation_p.L187F NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 253 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 ATGGCATAGAGAGCTGAGCAT 0.488000 75 127 0 0 0.000781405 0 0 ASB15 142685 broad.mit.edu 37 7 123268983 123268983 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:123268983T>G ENST00000451558.1 + 12 1456 c.935T>G c.(934-936)aTt>aGt p.I312S ASB15_ENST00000434204.1_Missense_Mutation_p.I312S|ASB15_ENST00000275699.3_Missense_Mutation_p.I312S|ASB15_ENST00000451215.1_Missense_Mutation_p.I312S|ASB15_ENST00000540573.1_Missense_Mutation_p.I312S Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 312 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 CTAACACCAATTCACTCAGCA 0.383000 18 23 0 0 0.000958276 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857635 140857635 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140857635A>G ENST00000308177.3 + 1 2056 c.1952A>G c.(1951-1953)aAt>aGt p.N651S PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCAAAGACAATGGGGAGCCT 0.577000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 39 0 0 0.000692331 0 0 SEMG2 6407 broad.mit.edu 37 20 43851778 43851778 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:43851778T>C ENST00000372769.3 + 2 1595 c.1505T>C c.(1504-1506)gTa>gCa p.V502A NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 502 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) GAAAAGCTAGTAGAAGGCAAG 0.398000 10 22 0 0 0.000442599 0 0 SEMA3G 56920 broad.mit.edu 37 3 52472075 52472075 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52472075G>A ENST00000231721.2 - 14 1649 c.1650C>T c.(1648-1650)taC>taT p.Y550Y NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 550 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GGCTGGGGCGGTAGTGGGTAC 0.672000 9 16 0 0 0.000274275 0 0 SP110 3431 broad.mit.edu 37 2 231077610 231077610 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:231077610G>A ENST00000258381.6 - 4 526 c.449C>T c.(448-450)tCa>tTa p.S150L SP110_ENST00000392048.3_Missense_Mutation_p.S150L|SP110_ENST00000540870.1_Missense_Mutation_p.S156L|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000258382.5_Missense_Mutation_p.S150L|SP110_ENST00000358662.4_Missense_Mutation_p.S150L|SP110_ENST00000338556.3_5'UTR NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 150 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CGCACAGGGTGAACAGCTTGG 0.597000 45 60 0 0 0.000781405 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434888 1434888 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:1434888G>A ENST00000233078.4 + 12 1362 c.1201G>A c.(1201-1203)Ggg>Agg p.G401R DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 401 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAACGTGCAAGGGTTCCACCC 0.677000 5 4 0 0 0.000602214 0 0 CSMD1 64478 broad.mit.edu 37 8 3046477 3046477 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:3046477G>A ENST00000520002.1 - 36 6013 c.5458C>T c.(5458-5460)Cct>Tct p.P1820S CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1819S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1820S|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1820S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1819S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1819S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1820S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1820 CUB 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATGGCTCAGGGTAGCCGGGG 0.473000 10 11 0 0 0.000442599 0 0 ARPP21 10777 broad.mit.edu 37 3 35763143 35763143 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:35763143A>T ENST00000187397.4 + 14 1498 c.1042A>T c.(1042-1044)Agc>Tgc p.S348C ARPP21_ENST00000444190.1_Missense_Mutation_p.S294C|ARPP21_ENST00000337271.5_Missense_Mutation_p.S294C|ARPP21_ENST00000458225.1_Missense_Mutation_p.S314C|ARPP21_ENST00000417925.1_Missense_Mutation_p.S314C NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 348 Ser-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TCGACAGAGCAGCTCAGAAAA 0.537000 4 10 0 0 0.000602214 0 0 PLCH1 23007 broad.mit.edu 37 3 155282851 155282851 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:155282851C>T ENST00000460012.1 - 8 1189 c.832G>A c.(832-834)Gaa>Aaa p.E278K PLCH1_ENST00000494598.1_Missense_Mutation_p.E296K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E296K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E278K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E296K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E278K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 296 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) TGGTACACTTCATGGTGCAAT 0.448000 7 24 0 0 0.000274275 0 0 KDM5B 10765 broad.mit.edu 37 1 202702783 202702783 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:202702783G>T ENST00000367265.3 - 23 4819 c.3655C>A c.(3655-3657)Ccc>Acc p.P1219T KDM5B_ENST00000367264.2_Missense_Mutation_p.P1255T NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1219 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CGACAATGGGGACAAAGCCAG 0.537000 9 36 0.000274275 0.00172819 0.000274275 1 0 LRG1 116844 broad.mit.edu 37 19 4538831 4538831 + Silent SNP G G A rs138125261 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:4538831G>A ENST00000306390.6 - 2 625 c.165C>T c.(163-165)tcC>tcT p.S55S CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'UTR NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 55 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGTTGACAGGAGATGGAGC 0.632000 38 46 0 0 0.00148497 0 0 GP5 2814 broad.mit.edu 37 3 194118498 194118498 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:194118498G>A ENST00000401815.1 - 1 585 c.514C>T c.(514-516)Ctg>Ttg p.L172L GP5_ENST00000323007.3_Silent_p.L172L P40197 GPV_HUMAN glycoprotein V (platelet) 172 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) AACAACTTCAGGTTCTCCAGA 0.512000 27 43 0 0 0.000720815 0 0 LAMA1 284217 broad.mit.edu 37 18 7013954 7013954 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:7013954C>T ENST00000389658.3 - 23 3316 c.3223G>A c.(3223-3225)Gat>Aat p.D1075N NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1075 Laminin EGF-like 12. D -> V (in Ref. 3; CAA41418). axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAACACTGATCGCAGGCCCGG 0.592000 6 6 0 0 0.00116845 0 0 ACTN3 89 broad.mit.edu 37 11 66323701 66323701 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:66323701G>A ENST00000513398.1 + 0 901 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 GGGCTGAGCAGGTAAGGCGGC 0.597000 22 33 0 0 0.00188189 0 0 CD180 4064 broad.mit.edu 37 5 66479238 66479238 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:66479238C>T ENST00000256447.4 - 3 1590 c.1433G>A c.(1432-1434)gGg>gAg p.G478E NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 478 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) AAAGTGATTCCCTTTTAAGTT 0.463000 33 54 0 0 0.00178596 0 0 HTRA3 94031 broad.mit.edu 37 4 8288468 8288468 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:8288468C>T ENST00000307358.2 + 3 870 c.666C>T c.(664-666)atC>atT p.I222I HTRA3_ENST00000382512.3_Silent_p.I222I NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 222 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 TCAAAGACATCGACAAGAAGT 0.612000 22 26 0 0 0.000295444 0 0 ZNF646 9726 broad.mit.edu 37 16 31089890 31089890 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:31089890C>T ENST00000394979.2 + 1 2668 c.2245C>T c.(2245-2247)Cag>Tag p.Q749* ZNF646_ENST00000300850.5_Nonsense_Mutation_p.Q749* O15015 ZN646_HUMAN zinc finger protein 646 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GACCCATTTCCAGGGTGATAA 0.537000 60 97 0 0 0.000781405 0 0 TRIB1 10221 broad.mit.edu 37 8 126448340 126448340 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:126448340T>A ENST00000311922.3 + 3 1328 c.746T>A c.(745-747)gTg>gAg p.V249E TRIB1_ENST00000519576.1_Missense_Mutation_p.V18E|TRIB1_ENST00000520847.1_Missense_Mutation_p.V83E NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 249 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CCAGCCTACGTGAGCCCTGAG 0.527000 107 185 0 0 0.000781405 0 0 OR7G1 125962 broad.mit.edu 37 19 9225760 9225760 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9225760C>T ENST00000293614.1 - 1 679 c.680G>A c.(679-681)aGa>aAa p.R227K OR7G1_ENST00000541538.1_Missense_Mutation_p.R227K Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TGATGGCATTCTCAGAACAGA 0.393000 24 49 0 0 0.000295444 0 0 GABRG3 2567 broad.mit.edu 37 15 27772760 27772760 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:27772760G>A ENST00000333743.6 + 8 1301 c.1047G>A c.(1045-1047)acG>acA p.T349T RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 349 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T349T(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CAACCACCACGAAGAAGACAA 0.493000 5 10 0 0 0.000602214 0 0 LRFN2 57497 broad.mit.edu 37 6 40360141 40360141 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:40360141C>T ENST00000338305.6 - 3 2453 c.1911G>A c.(1909-1911)cgG>cgA p.R637R NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 637 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TCCAGGGGGCCCGTCCCAGCC 0.706000 6 2 0 0 0.00116845 0 0 DLGAP5 9787 broad.mit.edu 37 14 55637496 55637496 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:55637496G>A ENST00000247191.2 - 11 1527 c.1311C>T c.(1309-1311)ctC>ctT p.L437L DLGAP5_ENST00000395425.2_Silent_p.L437L NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 437 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TTTCTGACTGGAGGATATTTC 0.338000 35 45 0 0 0.00058488 0 0 AGO3 192669 broad.mit.edu 37 1 36439063 36439063 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:36439063C>T ENST00000373191.4 + 5 958 c.609C>T c.(607-609)ttC>ttT p.F203F AGO3_ENST00000397828.2_Silent_p.F203F|AGO3_ENST00000324350.5_Silent_p.F203F|AGO3_ENST00000246314.6_Intron NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GGTTTGGATTCCATCAGTCTG 0.458000 57 58 0 0 0.000781405 0 0 OTOF 9381 broad.mit.edu 37 2 26703657 26703657 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:26703657C>T ENST00000272371.2 - 15 1926 c.1800G>A c.(1798-1800)tcG>tcA p.S600S OTOF_ENST00000403946.3_Silent_p.S600S NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 600 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCTCACCTCCGAGATGGGCG 0.667000 13 26 0 0 0.000219431 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060169 35060169 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:35060169G>A ENST00000373913.3 + 3 529 c.49G>A c.(49-51)Gac>Aac p.D17N DLGAP4_ENST00000401952.2_Missense_Mutation_p.D17N|DLGAP4_ENST00000373907.2_Missense_Mutation_p.D17N|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D17N Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 17 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGACAGCCTAGACCCACCCCA 0.721000 9 13 0 0 0.000673444 0 0 ERBB2 2064 broad.mit.edu 37 17 37883082 37883082 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:37883082C>T ENST00000406381.2 + 27 3405 c.2895C>T c.(2893-2895)ggC>ggT p.G965G ERBB2_ENST00000540147.1_Silent_p.G965G|ERBB2_ENST00000541774.1_Silent_p.G980G|ERBB2_ENST00000445658.2_Silent_p.G719G|ERBB2_ENST00000584601.1_Silent_p.G965G|ERBB2_ENST00000584450.1_Silent_p.G995G|ERBB2_ENST00000269571.5_Silent_p.G995G NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 995 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGGACTTGGGCCCAGCCAGTC 0.622000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 34 30 0 0 0.000692331 0 0 POF1B 79983 broad.mit.edu 37 X 84537306 84537306 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:84537306G>A ENST00000262753.4 - 16 1812 c.1667C>T c.(1666-1668)cCa>cTa p.P556L POF1B_ENST00000373145.3_Missense_Mutation_p.P556L NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 556 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GCCTAGGATTGGATATTGTGT 0.378000 4 0 0 0 0.000602214 0 0 FLG 2312 broad.mit.edu 37 1 152285957 152285957 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:152285957G>A ENST00000368799.1 - 3 1440 c.1405C>T c.(1405-1407)Ctc>Ttc p.L469F FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 469 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) ACCTGGTAGAGGGAAGACCCT 0.612000 Ichthyosis 53 120 0 0 0.000781405 0 0 SPACA1 81833 broad.mit.edu 37 6 88767377 88767377 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:88767377G>A ENST00000237201.1 + 3 430 c.313G>A c.(313-315)Gaa>Aaa p.E105K NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 105 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) CCCTGGTGGTGAATCCAAGTG 0.393000 22 7 0 0 0.00127121 0 0 CWH43 80157 broad.mit.edu 37 4 49040062 49040062 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:49040062C>T ENST00000226432.4 + 13 1851 c.1668C>T c.(1666-1668)ctC>ctT p.L556L CWH43_ENST00000513409.1_Silent_p.L529L NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 556 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GAGATGACCTCGACAGGAAAC 0.363000 23 38 0 0 0.000586117 0 0 SERINC5 256987 broad.mit.edu 37 5 79446751 79446751 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:79446751G>A ENST00000507668.2 - 9 1157 c.1007C>T c.(1006-1008)tCg>tTg p.S336L SERINC5_ENST00000512721.1_Missense_Mutation_p.S336L|SERINC5_ENST00000512972.2_Missense_Mutation_p.S336L|SERINC5_ENST00000509193.1_Missense_Mutation_p.S334L NM_001174071.1|NM_178276.5 NP_001167542.1|NP_840060.1 Q86VE9 SERC5_HUMAN serine incorporator 5 336 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GTCAGAACTCGATCTTGTTGT 0.463000 46 58 0 0 0.000781405 0 0 LINC00886 730091 broad.mit.edu 37 3 156528377 156528377 + RNA SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:156528377C>A ENST00000472943.1 - 0 148 NR_038387.1 CTTTCTCACACAGGCTCAGTA 0.473000 19 15 2.39187e-15 1.539e-14 0.00121646 1 0 SEMG1 6406 broad.mit.edu 37 20 43835771 43835771 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:43835771G>A ENST00000372781.3 + 1 133 c.e1+1 SEMG1_ENST00000244069.6_Splice_Site NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) GGACAAAAAGGTGAGTGGAGA 0.453000 11 19 0 0 0.000978159 0 0 NALCN 259232 broad.mit.edu 37 13 101717857 101717857 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:101717857C>T ENST00000251127.6 - 40 4584 c.4503G>A c.(4501-4503)ctG>ctA p.L1501L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1501 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGTCCACCTCCAGCCTCCCAC 0.577000 26 30 0 0 0.000586117 0 0 LEPRE1 64175 broad.mit.edu 37 1 43213059 43213059 + Nonsense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:43213059T>A ENST00000236040.4 - 14 1979 c.1939A>T c.(1939-1941)Aga>Tga p.R647* LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000296388.5_Nonsense_Mutation_p.R647*|LEPRE1_ENST00000397054.3_Nonsense_Mutation_p.R647* NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 647 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CCCACGGCTCTTCCACACTGA 0.582000 OREG0013422 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 33 0 0 0.00106085 0 0 SCTR 6344 broad.mit.edu 37 2 120221773 120221773 + Missense_Mutation SNP G G A rs142033327 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:120221773G>A ENST00000019103.5 - 6 829 c.562C>T c.(562-564)Cgt>Tgt p.R188C NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 188 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GACAGGGCACGAAGGATGAAG 0.557000 26 28 0 0 0.000586117 0 0 GPR98 84059 broad.mit.edu 37 5 90046514 90046514 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:90046514G>A ENST00000405460.2 + 53 11217 c.11121_splice c.e53+1 p.V3707_splice NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3707 Calx-beta 24. 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) CCTCAGGAGTGGTATGTAATT 0.368000 47 78 0 0 0.000781405 0 0 KAT6B 23522 broad.mit.edu 37 10 76789951 76789951 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:76789951C>T ENST00000287239.4 + 18 5858 c.5369C>T c.(5368-5370)gCc>gTc p.A1790V KAT6B_ENST00000372724.1_Missense_Mutation_p.A1498V|KAT6B_ENST00000372725.1_Missense_Mutation_p.A1498V|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1607V|KAT6B_ENST00000372714.1_Missense_Mutation_p.A1498V NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1790 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding ACGAGCAACGCCAACATTGGC 0.587000 33 28 0 0 0.00058488 0 0 GPR98 84059 broad.mit.edu 37 5 90012451 90012451 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:90012451C>T ENST00000405460.2 + 43 9448 c.9352C>T c.(9352-9354)Cag>Tag p.Q3118* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3118 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) AGTGACAGTTCAGTTCATTGT 0.413000 23 29 0 0 0.000295444 0 0 DIDO1 11083 broad.mit.edu 37 20 61511988 61511988 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:61511988G>A ENST00000266070.4 - 16 5645 c.5320C>T c.(5320-5322)Cca>Tca p.P1774S DIDO1_ENST00000395343.1_Missense_Mutation_p.P1774S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1774 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGCCCCCTTGGTCCCGGGAAA 0.627000 29 40 0 0 0.001512 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740553 37740553 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:37740553G>A ENST00000539465.1 + 15 2621 c.2028G>A c.(2026-2028)gaG>gaA p.E676E FRMPD1_ENST00000377765.3_Silent_p.E676E|FRMPD1_ENST00000541302.1_Silent_p.E545E|FRMPD1_ENST00000536622.1_Silent_p.E498E|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 676 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AGTTTTCCGAGAGTGCTGCTT 0.582000 12 4 0 0 0.000978159 0 0 C2orf16 84226 broad.mit.edu 37 2 27802578 27802578 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27802578G>A ENST00000408964.2 + 1 3190 c.3139G>A c.(3139-3141)Gaa>Aaa p.E1047K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1047 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TGTTCCAATGGAAGAAAGTGA 0.473000 37 57 0 0 0.00170553 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 22995438 22995438 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:22995438G>A ENST00000312584.3 - 9 1200 c.1106C>T c.(1105-1107)tCc>tTc p.S369F NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 369 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) GAGCTTTTCGGAGCCCACCAG 0.473000 25 20 0 0 0.000586117 0 0 SEMA3G 56920 broad.mit.edu 37 3 52470059 52470059 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52470059C>T ENST00000231721.2 - 16 1908 c.1909G>A c.(1909-1911)Gag>Aag p.E637K NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 637 Ig-like C2-type. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) AGCCCCCGCTCCGTGTGCAAG 0.647000 10 19 0 0 0.000673444 0 0 MTMR8 55613 broad.mit.edu 37 X 63579383 63579383 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:63579383G>A ENST00000374852.3 - 2 116 c.49C>T c.(49-51)Cgt>Tgt p.R17C MTMR8_ENST00000453546.1_Missense_Mutation_p.R17C NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 17 nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CTCACATAACGATCCACCAAT 0.428000 13 4 0 0 0.00185496 0 0 GPR112 139378 broad.mit.edu 37 X 135469904 135469904 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:135469904C>T ENST00000394143.1 + 16 8073 c.7782C>T c.(7780-7782)ttC>ttT p.F2594F GPR112_ENST00000412101.1_Silent_p.F2389F|GPR112_ENST00000394141.1_Silent_p.F2389F|GPR112_ENST00000370652.1_Silent_p.F2594F|GPR112_ENST00000287534.4_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2594 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) GGCAGATTTTCCTAGGCAATG 0.433000 13 8 0 0 0.000422831 0 0 LINS 55180 broad.mit.edu 37 15 101114038 101114038 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:101114038G>A ENST00000314742.8 - 5 1262 c.1040C>T c.(1039-1041)tCg>tTg p.S347L LINS_ENST00000561308.1_Missense_Mutation_p.S347L|LINS_ENST00000560133.1_Missense_Mutation_p.S228L|LINS_ENST00000559149.1_5'UTR NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 347 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 CAACAACCCCGAATTCACAGC 0.453000 35 48 0 0 0.00170553 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269457 150269457 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:150269457C>T ENST00000255945.2 + 3 474 c.299C>T c.(298-300)tCc>tTc p.S100F GIMAP4_ENST00000461940.1_Missense_Mutation_p.S114F|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 100 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGAAACGTCCAAGGAGATT 0.517000 22 18 0 0 0.00188189 0 0 DSG4 147409 broad.mit.edu 37 18 28968435 28968435 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:28968435G>A ENST00000359747.4 + 4 351 c.322G>A c.(322-324)Gaa>Aaa p.E108K RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E108K NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 108 Cadherin 1. 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) TCGCACTGGGGAAATTAACAT 0.398000 4 10 0 0 0.00024832 0 0 DDX60 55601 broad.mit.edu 37 4 169204758 169204758 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:169204758C>T ENST00000393743.3 - 13 1853 c.e13-1 NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CTAGATTTTTCTGAAAAAGAA 0.308000 4 21 0 0 0.00024832 0 0 C16orf62 57020 broad.mit.edu 37 16 19628025 19628025 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:19628025C>T ENST00000438132.3 + 14 1434 c.1386C>T c.(1384-1386)gtC>gtT p.V462V C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000448695.1_Silent_p.V223V|C16orf62_ENST00000543152.1_Silent_p.V122V|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000251143.5_Silent_p.V373V NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 373 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GGGATACGGTCCAGAACCAGC 0.507000 15 39 0 0 0.000422831 0 0 DYSF 8291 broad.mit.edu 37 2 71780979 71780979 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:71780979T>G ENST00000258104.3 + 21 2250 c.1973T>G c.(1972-1974)gTg>gGg p.V658G DYSF_ENST00000409762.1_Missense_Mutation_p.V675G|DYSF_ENST00000409366.1_Missense_Mutation_p.V659G|DYSF_ENST00000410020.3_Missense_Mutation_p.V676G|DYSF_ENST00000429174.2_Missense_Mutation_p.V658G|DYSF_ENST00000413539.2_Missense_Mutation_p.V689G|DYSF_ENST00000409582.3_Missense_Mutation_p.V675G|DYSF_ENST00000409744.1_Missense_Mutation_p.V645G|DYSF_ENST00000409651.1_Missense_Mutation_p.V690G|DYSF_ENST00000394120.2_Missense_Mutation_p.V659G|DYSF_ENST00000410041.1_Missense_Mutation_p.V676G NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 658 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GTGAAACCTGTGGTGGTGCTG 0.587000 16 12 0 0 0.000422831 0 0 ADRBK1 156 broad.mit.edu 37 11 67047159 67047159 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:67047159G>A ENST00000308595.5 + 5 719 c.429G>A c.(427-429)ccG>ccA p.P143P ADRBK1_ENST00000526285.1_Silent_p.P143P NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 143 N-terminal.|RGS. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) AGGTGCCTCCGGATCTCTTCC 0.637000 18 23 0 0 0.00074312 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22434032 22434032 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:22434032G>A ENST00000390442.3 + 0 141 GGTGGAGCAGGATCCTGGACC 0.478000 6 4 0 0 8.12818e-05 0 0 AOC3 8639 broad.mit.edu 37 17 41003627 41003627 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:41003627C>T ENST00000308423.2 + 1 427 c.267C>T c.(265-267)gcC>gcT p.A89A NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 89 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CAGCCCAGGCCCGGCCCTCGG 0.672000 49 70 0 0 0.000781405 0 0 PKP3 11187 broad.mit.edu 37 11 396916 396916 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:396916G>A ENST00000331563.2 + 3 491 c.415G>A c.(415-417)Ggg>Agg p.G139R PKP3_ENST00000530695.1_3'UTR NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 139 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCCCACAACGGGGGCAGCGC 0.711000 12 1 0 0 0.00136819 0 0 TRIML2 205860 broad.mit.edu 37 4 189020237 189020237 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:189020237G>A ENST00000512729.1 - 4 797 c.423C>T c.(421-423)atC>atT p.I141I TRIML2_ENST00000326754.3_Silent_p.I141I|TRIML2_ENST00000536972.1_Silent_p.I191I NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 141 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CAAGCTCCACGATGAGCTTTA 0.478000 35 58 0 0 0.000814825 0 0 SRGAP3 9901 broad.mit.edu 37 3 9094804 9094804 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:9094804G>A ENST00000383836.3 - 9 1657 c.1230C>T c.(1228-1230)tcC>tcT p.S410S SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.S410S NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 410 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCGACTTGACGGACTCTGTCG 0.488000 T RAF1 pilocytic astrocytoma 30 30 0 0 0.00058488 0 0 TAF1L 138474 broad.mit.edu 37 9 32631150 32631150 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:32631150C>T ENST00000242310.4 - 1 4517 c.4428G>A c.(4426-4428)gcG>gcA p.A1476A NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1476 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATTGTAGGTCGCACTGTTTT 0.428000 55 19 0 0 0.000781405 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45642855 45642855 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:45642855C>T ENST00000427229.2 + 0 14 AATATCACCTCCTAGGAAATA 0.438000 8 6 0 0 0.000157383 0 0 HELB 92797 broad.mit.edu 37 12 66725067 66725067 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:66725067C>T ENST00000247815.4 + 12 2863 c.2804C>T c.(2803-2805)gCc>gTc p.A935V NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 935 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CTCCGGAATGCCATTATGAAA 0.542000 53 6 0 0 0.000781405 0 0 SPPL2B 56928 broad.mit.edu 37 19 2345312 2345312 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:2345312C>T ENST00000452401.2 + 0 1415 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTATACTTCGTGGCCTGCA 0.647000 9 20 0 0 0.000673444 0 0 LANCL1 10314 broad.mit.edu 37 2 211302519 211302519 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:211302519G>A ENST00000443314.1 - 6 1110 c.768C>T c.(766-768)ttC>ttT p.F256F AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Silent_p.F256F|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Silent_p.F256F|LANCL1_ENST00000431941.2_Silent_p.F256F|LANCL1_ENST00000441020.3_Silent_p.F256F O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 256 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) TGCCAGAAGGGAATTTCAGCT 0.478000 19 18 0 0 0.000958276 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69095234 69095234 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:69095234C>T ENST00000332644.5 - 8 848 c.686_splice c.e8-1 p.K229_splice NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 229 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 AATTATTTTTCCTAGAGGACA 0.323000 11 15 0 0 0.000978159 0 0 TTC7A 57217 broad.mit.edu 37 2 47300885 47300885 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:47300885G>A ENST00000319190.5 + 20 2768 c.2400G>A c.(2398-2400)aaG>aaA p.K800K TTC7A_ENST00000394850.2_Silent_p.K824K|CALM2_ENST00000422269.1_Intron|TTC7A_ENST00000409245.1_Silent_p.K766K|TTC7A_ENST00000263737.6_Silent_p.K446K NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 800 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGGCCCAGAAGGTGCTTCGTG 0.652000 28 46 0 0 0.000339439 0 0 MOG 4340 broad.mit.edu 37 6 29627375 29627375 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29627375G>A ENST00000376894.4 + 2 486 c.368G>A c.(367-369)gGa>gAa p.G123E MOG_ENST00000376902.3_Missense_Mutation_p.G123E|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.G123E|MOG_ENST00000416766.2_Missense_Mutation_p.G123E|MOG_ENST00000376898.3_Missense_Mutation_p.G123E|MOG_ENST00000376917.3_Missense_Mutation_p.G123E|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.G123E|MOG_ENST00000376891.4_Missense_Mutation_p.G123E|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.G123E|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.G123E|MOG_ENST00000494692.1_Missense_Mutation_p.G123E Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein 123 Ig-like V-type. cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2) 19 TCAGATGAAGGAGGTTTCACC 0.463000 50 32 0 0 0.000781405 0 0 OR4K2 390431 broad.mit.edu 37 14 20344685 20344685 + Missense_Mutation SNP A A C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20344685A>C ENST00000298642.2 + 1 295 c.259A>C c.(259-261)Aca>Cca p.T87P NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGATTACCTAACAGGTCACAA 0.413000 28 103 0 0 0.00106085 0 0 SREBF1 6720 broad.mit.edu 37 17 17721087 17721087 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:17721087G>A ENST00000355815.4 - 8 1586 c.1417C>T c.(1417-1419)Ctt>Ttt p.L473F SREBF1_ENST00000435530.2_Missense_Mutation_p.L443F|SREBF1_ENST00000261646.5_Missense_Mutation_p.L443F|SREBF1_ENST00000338854.5_Missense_Mutation_p.L443F|SREBF1_ENST00000395757.1_Missense_Mutation_p.L189F NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 443 Interaction with LMNA (By similarity). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 CTGCTGCCAAGGGACAAGGGG 0.652000 27 35 0 0 0.001512 0 0 SLC12A6 9990 broad.mit.edu 37 15 34536194 34536194 + Nonsense_Mutation SNP G G A rs121908428 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:34536194G>A ENST00000354181.3 - 16 2515 c.2023C>T c.(2023-2025)Cga>Tga p.R675* SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.R616*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.R675*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.R616*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.R660*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.R666*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.R675*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.R487*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.R487*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.R624* Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 675 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TAGCGGAATCGGGGTCTCCAG 0.408000 50 82 0 0 0.000781405 0 0 FBN3 84467 broad.mit.edu 37 19 8155129 8155129 + Missense_Mutation SNP C C G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:8155129C>G ENST00000600128.1 - 49 6452 c.6038G>C c.(6037-6039)cGg>cCg p.R2013P FBN3_ENST00000601739.1_Missense_Mutation_p.R2013P|FBN3_ENST00000270509.2_Missense_Mutation_p.R2013P Q75N90 FBN3_HUMAN fibrillin 3 2013 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GAAACTCTGCCGTGTGTCTGT 0.612000 7 18 0 0 0.000274275 0 0 SLC12A6 9990 broad.mit.edu 37 15 34536195 34536195 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:34536195G>A ENST00000354181.3 - 16 2514 c.2022C>T c.(2020-2022)ccC>ccT p.P674P SLC12A6_ENST00000397702.2_Silent_p.P615P|SLC12A6_ENST00000560611.1_Silent_p.P674P|SLC12A6_ENST00000458406.2_Silent_p.P615P|SLC12A6_ENST00000397707.2_Silent_p.P659P|SLC12A6_ENST00000558589.1_Silent_p.P665P|SLC12A6_ENST00000558667.1_Silent_p.P674P|SLC12A6_ENST00000560164.1_Silent_p.P486P|SLC12A6_ENST00000451844.2_Silent_p.P486P|SLC12A6_ENST00000290209.5_Silent_p.P623P Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 674 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGCGGAATCGGGGTCTCCAGT 0.413000 50 82 0 0 0.000781405 0 0 GRIA2 2891 broad.mit.edu 37 4 158282245 158282245 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:158282245G>A ENST00000264426.9 + 14 2654 c.2375G>A c.(2374-2376)gGa>gAa p.G792E GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000296526.7_Intron|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000449365.1_Intron NM_001083619.1 NP_001077088.1 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 792 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TACGACAAAGGAGAGTGCGGC 0.448000 4 7 0 0 0.00024832 0 0 SGIP1 84251 broad.mit.edu 37 1 67155970 67155970 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:67155970C>T ENST00000371037.4 + 17 1618 c.1541C>T c.(1540-1542)tCc>tTc p.S514F SGIP1_ENST00000371036.3_Missense_Mutation_p.S314F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S315F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S545F|SGIP1_ENST00000371035.3_Missense_Mutation_p.S304F NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 514 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TCAACCAATTCCTTGAGCGCA 0.468000 50 47 0 0 0.000781405 0 0 ATF2 1386 broad.mit.edu 37 2 175976345 175976345 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:175976345C>T ENST00000264110.2 - 10 1077 c.779G>A c.(778-780)gGa>gAa p.G260E ATF2_ENST00000392544.1_Missense_Mutation_p.G260E|ATF2_ENST00000409437.1_Missense_Mutation_p.G144E|ATF2_ENST00000409635.1_Missense_Mutation_p.G202E|ATF2_ENST00000538946.1_Missense_Mutation_p.G242E|ATF2_ENST00000487334.2_Missense_Mutation_p.E204K|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.G202E|ATF2_ENST00000426833.3_Missense_Mutation_p.G242E NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 260 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) ACCTGGGATTCCTGGAACACT 0.393000 45 74 0 0 0.000781405 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634535 156634535 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:156634535T>A ENST00000296518.7 + 7 1581 c.1372T>A c.(1372-1374)Ttt>Att p.F458I GUCY1A3_ENST00000506455.1_Missense_Mutation_p.F458I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.F458I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.F458I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.F458I|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.F200I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.F458I Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 458 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GTGCTCCATATTTCCCTGTGA 0.522000 9 8 0 0 0.000978159 0 0 CNTN3 5067 broad.mit.edu 37 3 74347205 74347205 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:74347205G>A ENST00000263665.6 - 17 2331 c.2304C>T c.(2302-2304)atC>atT p.I768I NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 768 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AATATGGCACGATGCTTTCAT 0.453000 21 29 0 0 0.00188189 0 0 COL22A1 169044 broad.mit.edu 37 8 139729104 139729104 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:139729104A>G ENST00000303045.6 - 28 2810 c.2364T>C c.(2362-2364)atT>atC p.I788I COL22A1_ENST00000435777.1_Silent_p.I788I|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 788 Collagen-like 6.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTGCTCCCCAATTTCTCCCT 0.413000 HNSCC(7;0.00092) 20 46 0 0 0.000720815 0 0 GOLGA1 2800 broad.mit.edu 37 9 127684102 127684102 + Missense_Mutation SNP G G A rs149867372 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:127684102G>A ENST00000373555.4 - 9 964 c.631C>T c.(631-633)Cgt>Tgt p.R211C NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 211 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TCCTGGGTACGACTAAGTTCT 0.418000 40 15 0 0 0.00128727 0 0 OR8H3 390152 broad.mit.edu 37 11 55890037 55890037 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55890037C>T ENST00000313472.3 + 1 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.428000 33 27 0 0 0.00111076 0 0 NPAP1 23742 broad.mit.edu 37 15 24921240 24921240 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:24921240C>T ENST00000329468.2 + 1 700 c.226C>T c.(226-228)Cgg>Tgg p.R76W NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCCTCTCCCTCGGGCTGCGGC 0.711000 12 20 0 0 0.00185496 0 0 PRKDC 5591 broad.mit.edu 37 8 48815190 48815190 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:48815190G>A ENST00000314191.2 - 27 3264 c.3208C>T c.(3208-3210)Ccc>Tcc p.P1070S PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P1070S NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1070 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAAGCATTGGGGTGAAGCGCA 0.428000 Non-homologous end-joining 14 19 0 0 0.000422831 0 0 KLF17 128209 broad.mit.edu 37 1 44595563 44595563 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:44595563C>T ENST00000372299.3 + 2 678 c.620C>T c.(619-621)tCc>tTc p.S207F KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 207 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GTGCTCCCCTCCATGGCTCAG 0.582000 19 36 0 0 0.00152264 0 0 RNF17 56163 broad.mit.edu 37 13 25418818 25418818 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:25418818G>A ENST00000255324.5 + 21 2912 c.2860G>A c.(2860-2862)Gaa>Aaa p.E954K RNF17_ENST00000381921.1_Missense_Mutation_p.E954K|RNF17_ENST00000339524.3_Missense_Mutation_p.E6K NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 954 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) AGCTGCTTATGAAAACTCAAA 0.328000 37 47 0 0 0.00170553 0 0 MAPK10 5602 broad.mit.edu 37 4 87023060 87023060 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:87023060C>T ENST00000395169.3 - 7 1157 c.437G>A c.(436-438)gGa>gAa p.G146E MAPK10_ENST00000361569.2_Missense_Mutation_p.G184E|MAPK10_ENST00000449047.2_Missense_Mutation_p.G39E|MAPK10_ENST00000395166.1_Missense_Mutation_p.G146E|MAPK10_ENST00000395161.2_Missense_Mutation_p.G184E|MAPK10_ENST00000395157.3_Missense_Mutation_p.G39E|MAPK10_ENST00000359221.3_Missense_Mutation_p.G184E|MAPK10_ENST00000395160.3_Missense_Mutation_p.G39E NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 184 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) GTGAATAATTCCAGCAGAATG 0.403000 17 20 0 0 0.000958276 0 0 RARS 5917 broad.mit.edu 37 5 167915683 167915683 + Nonsense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:167915683T>A ENST00000231572.3 + 2 176 c.122T>A c.(121-123)tTg>tAg p.L41* RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 41 Could be involved in the assembly of the multisynthetase complex. arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TCTCCAAATTTGGAGCAGTTA 0.353000 37 36 0 0 0.000953801 0 0 SUSD4 55061 broad.mit.edu 37 1 223402594 223402594 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:223402594G>A ENST00000343846.3 - 5 1494 c.861C>T c.(859-861)atC>atT p.I287I SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.I287I|SUSD4_ENST00000454695.2_Silent_p.I127I Q5VX71 SUSD4_HUMAN sushi domain containing 4 287 Sushi 4. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) ACTGGCAGGTGATGTACTTGT 0.537000 36 96 0 0 0.000437636 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454455 6454455 + Missense_Mutation SNP A A C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6454455A>C ENST00000301454.4 - 6 780 c.674T>G c.(673-675)aTc>aGc p.I225S SLC25A23_ENST00000414491.2_Missense_Mutation_p.I42S|SLC25A23_ENST00000334510.5_Missense_Mutation_p.I225S NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 225 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 CCCCCCAAGGATGTTCAGCCG 0.597000 27 54 0 0 0.001512 0 0 LILRB4 11006 broad.mit.edu 37 19 55179098 55179098 + Missense_Mutation SNP G G A rs146325339 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:55179098G>A ENST00000391736.1 + 13 1369 c.1054G>A c.(1054-1056)Gat>Aat p.D352N LILRB4_ENST00000430952.2_Missense_Mutation_p.D351N|LILRB4_ENST00000270452.2_Missense_Mutation_p.D352N|LILRB4_ENST00000391733.3_Missense_Mutation_p.D353N|LILRB4_ENST00000391734.3_Intron NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 352 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GAGCCCACACGATGAAGACCC 0.567000 13 14 0 0 0.000422831 0 0 UNC5D 137970 broad.mit.edu 37 8 35402039 35402039 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:35402039C>T ENST00000453357.2 + 1 130 c.74C>T c.(73-75)tCc>tTc p.S25F UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000404895.2_Intron Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 0 apoptosis|axon guidance integral to membrane receptor activity 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) GACTTTTCCTCCCAAACTTCA 0.408000 20 35 0 0 0.00152264 0 0 HIP1 3092 broad.mit.edu 37 7 75182833 75182833 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:75182833G>A ENST00000336926.6 - 22 2240 c.2214C>T c.(2212-2214)tcC>tcT p.S738S HIP1_ENST00000434438.2_Silent_p.S738S NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 738 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTTCCTCCAGGGAGGCCAGGT 0.527000 T PDGFRB CMML 38 36 0 0 0.00128727 0 0 GYS1 2997 broad.mit.edu 37 19 49490544 49490544 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49490544G>A ENST00000323798.3 - 3 595 c.399C>T c.(397-399)ctC>ctT p.L133L GYS1_ENST00000540532.1_Silent_p.L53L|GYS1_ENST00000541188.1_Silent_p.L53L|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Intron NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 133 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AGGTATCCCAGAGCTCTCCCT 0.637000 12 6 0 0 0.00136819 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362473 105362473 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:105362473G>A ENST00000369774.4 - 15 2778 c.2502C>T c.(2500-2502)acC>acT p.T834T SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Silent_p.T701T|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.T669T|SH3PXD2A_ENST00000355946.2_Silent_p.T806T Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 834 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ATTCCTTCTTGGTGGGACATG 0.647000 31 44 0 0 0.000409698 0 0 C5orf34 375444 broad.mit.edu 37 5 43488032 43488032 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:43488032C>T ENST00000306862.2 - 12 2074 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 567 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) TGTATCTTTTCAAGTTCAGAA 0.323000 10 11 0 0 0.000442599 0 0 CLEC10A 10462 broad.mit.edu 37 17 6979025 6979025 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:6979025G>A ENST00000576617.1 - 7 888 c.619C>T c.(619-621)Cta>Tta p.L207L CLEC10A_ENST00000416562.2_Intron|CLEC10A_ENST00000571664.1_Intron|CLEC10A_ENST00000254868.4_Intron Q8IUN9 CLC10_HUMAN C-type lectin domain family 10, member A 0 C-type lectin. endocytosis|innate immune response integral to membrane|plasma membrane sugar binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 ACATGTCTTAGGAACTGAGTA 0.542000 24 22 0 0 0.000375601 0 0 GAS7 8522 broad.mit.edu 37 17 9850239 9850239 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:9850239G>A ENST00000396115.1 - 6 717 c.407C>T c.(406-408)aCc>aTc p.T136I GAS7_ENST00000585266.1_Missense_Mutation_p.T132I|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.T132I|GAS7_ENST00000542249.1_Missense_Mutation_p.T141I|GAS7_ENST00000437099.2_Missense_Mutation_p.T132I|GAS7_ENST00000583882.1_Missense_Mutation_p.T56I|GAS7_ENST00000580865.1_Missense_Mutation_p.T56I|GAS7_ENST00000432992.2_Missense_Mutation_p.T196I|GAS7_ENST00000579158.1_Missense_Mutation_p.T148I NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 196 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 GCTCCACTCGGTTGGTTTCAG 0.582000 T MLL AML* 13 11 0 0 0.000566183 0 0 MYO9A 4649 broad.mit.edu 37 15 72190481 72190481 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:72190481G>A ENST00000356056.5 - 25 4835 c.4363C>T c.(4363-4365)Ctt>Ttt p.L1455F MYO9A_ENST00000566885.1_Missense_Mutation_p.L1075F|MYO9A_ENST00000564571.1_Missense_Mutation_p.L1455F|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.L1436F|MYO9A_ENST00000424560.1_Missense_Mutation_p.L1455F NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1455 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TCCAAAGTAAGAGCTTCCCCC 0.393000 20 27 0 0 0.00152264 0 0 ITGA3 3675 broad.mit.edu 37 17 48149481 48149481 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:48149481C>T ENST00000320031.8 + 7 1421 c.1091C>T c.(1090-1092)cCc>cTc p.P364L ITGA3_ENST00000007722.7_Missense_Mutation_p.P364L|ITGA3_ENST00000544892.1_Missense_Mutation_p.P139L NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 364 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity p.P364R(1) endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CTTCATGGCCCCAGTGGCTCT 0.557000 42 44 0 0 0.000781405 0 0 CLSPN 63967 broad.mit.edu 37 1 36186542 36186542 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:36186542C>T ENST00000251195.5 - 25 4045 c.3949G>A c.(3949-3951)Gga>Aga p.G1317R Q9HAW4 CLSPN_HUMAN claspin 0 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATAGGAGCTCCACTCCAGGTG 0.493000 17 20 0 0 0.00074312 0 0 IMMT 10989 broad.mit.edu 37 2 86371633 86371633 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:86371633C>T ENST00000410111.3 - 15 2422 c.2035G>A c.(2035-2037)Gag>Aag p.E679K IMMT_ENST00000409051.2_Missense_Mutation_p.E632K|IMMT_ENST00000254636.5_Missense_Mutation_p.E580K|IMMT_ENST00000449247.2_Missense_Mutation_p.E668K|IMMT_ENST00000442664.2_Missense_Mutation_p.E678K NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 679 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGCAGAGCTCTGGGGGCGGC 0.453000 28 36 0 0 0.001512 0 0 NR5A2 2494 broad.mit.edu 37 1 200090020 200090020 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:200090020C>T ENST00000367362.3 + 7 1561 c.1315C>T c.(1315-1317)Cgt>Tgt p.R439C NR5A2_ENST00000236914.3_Missense_Mutation_p.R393C|NR5A2_ENST00000544748.1_Missense_Mutation_p.R367C NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 439 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) GGCAAAACTTCGTTCTCTCCA 0.438000 32 83 0 0 0.000409698 0 0 VRK2 7444 broad.mit.edu 37 2 58359036 58359036 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:58359036C>T ENST00000435505.2 + 12 1515 c.770C>T c.(769-771)cCt>cTt p.P257L VRK2_ENST00000440705.2_Missense_Mutation_p.P234L|VRK2_ENST00000417641.2_Missense_Mutation_p.P257L|VRK2_ENST00000340157.4_Missense_Mutation_p.P257L|VRK2_ENST00000412104.2_Missense_Mutation_p.P257L Q86Y07 VRK2_HUMAN vaccinia related kinase 2 257 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 CTGAAGGACCCTGTGGCTGTG 0.478000 13 20 0 0 0.00185496 0 0 IGHV3-49 28423 broad.mit.edu 37 14 107013292 107013292 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:107013292C>T ENST00000390625.2 - 0 126 CCACACATATCCACTGTTTCT 0.488000 22 28 0 0 0.00188189 0 0 DGKB 1607 broad.mit.edu 37 7 14613949 14613949 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:14613949C>T ENST00000403951.2 - 20 2080 c.1661G>A c.(1660-1662)aGc>aAc p.S554N DGKB_ENST00000407950.1_Missense_Mutation_p.S546N|DGKB_ENST00000406247.3_Missense_Mutation_p.S554N|DGKB_ENST00000399322.3_Missense_Mutation_p.S554N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.S535N|DGKB_ENST00000258767.5_Missense_Mutation_p.S554N|DGKB_ENST00000402815.1_Missense_Mutation_p.S553N Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 554 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GATTTCTGTGCTGTTTTCAAT 0.343000 43 71 0 0 0.00148497 0 0 ADAM29 11086 broad.mit.edu 37 4 175897470 175897470 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:175897470C>T ENST00000359240.3 + 5 1464 c.794C>T c.(793-795)tCt>tTt p.S265F ADAM29_ENST00000514159.1_Missense_Mutation_p.S265F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S265F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S265F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 265 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTAAGGAAATCTGTGCACCTG 0.408000 21 35 0 0 0.000295444 0 0 EFHB 151651 broad.mit.edu 37 3 19924167 19924167 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:19924167G>A ENST00000295824.9 - 12 2364 c.2203C>T c.(2203-2205)Cgt>Tgt p.R735C EFHB_ENST00000344838.4_Missense_Mutation_p.R605C NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 735 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CTGATGCGACGAATTCGGGGA 0.418000 15 17 0 0 0.00074312 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801030 133801030 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:133801030C>T ENST00000321016.8 - 11 1599 c.e11-1 IGSF9B_ENST00000533871.2_Splice_Site Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTTCCCTACCTTGGTGAACA 0.637000 17 35 0 0 0.00188189 0 0 SZT2 23334 broad.mit.edu 37 1 43896717 43896717 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:43896717C>T ENST00000562955.1 + 32 4701 c.4701C>T c.(4699-4701)ccC>ccT p.P1567P SZT2_ENST00000372442.1_Silent_p.P725P NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1624 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGACTTTGCCCCTGGAAGTGG 0.617000 25 35 0 0 0.000586117 0 0 BATF3 55509 broad.mit.edu 37 1 212860307 212860307 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:212860307C>T ENST00000243440.1 - 3 432 c.210G>A c.(208-210)ctG>ctA p.L70L BATF3_ENST00000478275.1_5'UTR NM_018664.2 NP_061134.1 Q9NR55 BATF3_HUMAN basic leucine zipper transcription factor, ATF-like 3 70 Leucine-zipper. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781) TTTCTTGCTCCAGGCTCTCAT 0.572000 116 68 0 0 0.000781405 0 0 PRPF8 10594 broad.mit.edu 37 17 1580001 1580001 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:1580001G>A ENST00000572621.1 - 15 2451 c.2186C>T c.(2185-2187)cCt>cTt p.P729L PRPF8_ENST00000304992.6_Missense_Mutation_p.P729L Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 729 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CGGCAGCCCAGGGACCTAAAA 0.557000 62 66 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179591859 179591859 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179591859G>A ENST00000589042.1 - 69 20457 c.20233C>T c.(20233-20235)Ccc>Tcc p.P6745S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6428S|TTN_ENST00000342992.6_Missense_Mutation_p.P5501S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6428 Ig-like 49. 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) CTGCCAGCGGGATTCTGAGCC 0.428000 9 11 0 0 0.000673444 0 0 WNT9B 7484 broad.mit.edu 37 17 44952698 44952698 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:44952698G>A ENST00000393461.2 + 3 619 c.566G>A c.(565-567)cGg>cAg p.R189Q WNT9B_ENST00000290015.2_Missense_Mutation_p.R189Q O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 189 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) CTGCGGGCACGGGCAGACGCC 0.617000 8 13 0 0 0.000274275 0 0 PTPRD 5789 broad.mit.edu 37 9 8454580 8454580 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:8454580C>T ENST00000355233.5 - 18 2759 c.2657_splice c.e18+1 p.R886_splice PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000486161.1_Splice_Site_p.R885_splice|PTPRD_ENST00000397611.3_Splice_Site_p.R882_splice|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron NM_130391.3|NM_130392.3|NM_130393.3 NP_569075.2|NP_569076.2|NP_569077.2 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1292 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATTCCTCACCTGTCGGGTTT 0.408000 TSP Lung(15;0.13) 8 4 0 0 0.000274275 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30883181 30883181 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:30883181G>A ENST00000251071.5 - 7 1846 c.1096C>T c.(1096-1098)Cca>Tca p.P366S CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P366S|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P33S|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P366S|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.P366S NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 366 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACCTCTTGTGGTTGTATCTCT 0.398000 32 5 0 0 0.000692331 0 0 GPR19 2842 broad.mit.edu 37 12 12815020 12815020 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:12815020G>A ENST00000540510.1 - 2 555 c.363C>T c.(361-363)ttC>ttT p.F121F GPR19_ENST00000332427.2_Silent_p.F121F Q15760 GPR19_HUMAN G protein-coupled receptor 19 121 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GGAGCAGGACGAAAGGCGTGC 0.522000 39 11 0 0 0.00128727 0 0 SPTA1 6708 broad.mit.edu 37 1 158615073 158615073 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158615073C>T ENST00000368148.3 - 29 4279 c.4099G>A c.(4099-4101)Gaa>Aaa p.E1367K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1367K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1367 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGCTTTTTTTCAATTTCAGGG 0.507000 29 32 0 0 0.000339439 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607446 31607446 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:31607446C>T ENST00000170150.3 + 11 1165 c.970C>T c.(970-972)Cct>Tct p.P324S NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 324 extracellular region lipid binding GGGTGCCACACCTGTGGCCAT 0.672000 14 18 0 0 0.000308642 0 0 ZNF695 57116 broad.mit.edu 37 1 247151424 247151424 + Silent SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247151424C>A ENST00000339986.7 - 4 540 c.393G>T c.(391-393)gtG>gtT p.V131V ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_5'UTR NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 131 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TCCACTCACCCACAATTTCCC 0.403000 11 535 0.00136819 0.00858408 0.00136819 1 0 KIR3DL2 3812 broad.mit.edu 37 19 55378169 55378169 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:55378169C>T ENST00000326321.3 + 9 1384 c.1351C>T c.(1351-1353)Ctt>Ttt p.L451F KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L451F|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.L434F NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 451 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) ACAGTCAGGTCTTGAGGGGGT 0.527000 62 97 0 0 0.000781405 0 0 ZNF699 374879 broad.mit.edu 37 19 9413135 9413135 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9413135C>T ENST00000591998.1 - 3 322 c.94G>A c.(94-96)Gaa>Aaa p.E32K ZNF699_ENST00000308650.3_Missense_Mutation_p.E32K Q32M78 ZN699_HUMAN zinc finger protein 699 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AAAGCCCATTCCTCCTGGGTA 0.443000 31 52 0 0 0.000491102 0 0 PGK2 5232 broad.mit.edu 37 6 49754498 49754498 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:49754498G>A ENST00000304801.3 - 1 555 c.403C>T c.(403-405)Ccc>Tcc p.P135S NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 135 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTCCAGAGGGATCTTGGCCC 0.507000 12 36 0 0 0.00185496 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128160 68128160 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:68128160G>A ENST00000585558.1 + 4 425 c.37G>A c.(37-39)Gaa>Aaa p.E13K KCNJ16_ENST00000586462.1_Missense_Mutation_p.E17K|KCNJ16_ENST00000392670.1_5'UTR|KCNJ16_ENST00000589377.1_5'UTR|KCNJ16_ENST00000392671.1_5'UTR|KCNJ16_ENST00000283936.1_5'UTR Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 0 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CCCAAACCAAGAAATAGCAAC 0.358000 10 10 0 0 0.000673444 0 0 FCN1 2219 broad.mit.edu 37 9 137803076 137803076 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:137803076C>T ENST00000371806.3 - 8 727 c.636G>A c.(634-636)gaG>gaA p.E212E NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 212 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GGTGGTTGCCCTCAAAGTCCA 0.527000 98 25 0 0 0.000781405 0 0 CLEC16A 23274 broad.mit.edu 37 16 11219850 11219850 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:11219850C>T ENST00000409790.1 + 22 2718 c.2488C>T c.(2488-2490)Cca>Tca p.P830S CLEC16A_ENST00000409552.3_Missense_Mutation_p.P812S NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 830 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCTGGACCTCCCAATCCAGCC 0.612000 81 98 0 0 0.000781405 0 0 USH2A 7399 broad.mit.edu 37 1 215847652 215847652 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:215847652C>T ENST00000366943.2 - 63 13987 c.13601G>A c.(13600-13602)gGg>gAg p.G4534E USH2A_ENST00000307340.3_Missense_Mutation_p.G4534E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4534 Fibronectin type-III 31. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGTTCCATCCCTGAGGGTGC 0.507000 HNSCC(13;0.011) 58 38 0 0 0.000781405 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884778 24884778 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:24884778C>T ENST00000382554.3 + 9 4141 c.3823C>T c.(3823-3825)Ctc>Ttc p.L1275F NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1275 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 ATTGGCCCTCCTCCAGGGCCT 0.637000 38 29 0 0 0.00148497 0 0 DSC2 1824 broad.mit.edu 37 18 28671089 28671089 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:28671089T>C ENST00000280904.6 - 4 819 c.376A>G c.(376-378)Aaa>Gaa p.K126E DSC2_ENST00000251081.6_Missense_Mutation_p.K126E NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 126 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) ACTTTTTCTTTAGTATGTCTT 0.363000 10 14 0 0 0.00136819 0 0 PREX2 80243 broad.mit.edu 37 8 69009299 69009299 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:69009299G>A ENST00000288368.4 + 22 2693 c.2416G>A c.(2416-2418)Gag>Aag p.E806K PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 806 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 TGGGAAGAAGGAGCATGTGAG 0.423000 8 16 0 0 0.000274275 0 0 SLC27A6 28965 broad.mit.edu 37 5 128351593 128351593 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:128351593G>A ENST00000262462.4 + 5 1995 c.985G>A c.(985-987)Gat>Aat p.D329N SLC27A6_ENST00000395266.1_Missense_Mutation_p.D329N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.D329N Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 329 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGGAGAAAAGGATCATAAGGT 0.308000 7 26 0 0 0.000274275 0 0 CDH6 1004 broad.mit.edu 37 5 31294328 31294328 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:31294328T>A ENST00000265071.2 + 3 753 c.488T>A c.(487-489)gTt>gAt p.V163D CDH6_ENST00000514738.1_Missense_Mutation_p.V108D NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 163 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACCAAGGAGGTTTACACAGCC 0.478000 23 41 0 0 0.000878237 0 0 PES1 23481 broad.mit.edu 37 22 30977392 30977392 + Missense_Mutation SNP C C T rs145353108 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:30977392C>T ENST00000402281.1 - 10 1325 c.334G>A c.(334-336)Gag>Aag p.E112K PES1_ENST00000402284.3_Missense_Mutation_p.E234K|PES1_ENST00000405677.1_Missense_Mutation_p.E112K|PES1_ENST00000335214.6_Missense_Mutation_p.E251K|PES1_ENST00000354694.6_Missense_Mutation_p.E251K O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 251 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding p.E251K(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 GCCTGACCCTCGAGCTAGTAG 0.632000 20 25 0 0 0.00121646 0 0 MROH2B 133558 broad.mit.edu 37 5 41009411 41009411 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:41009411C>T ENST00000399564.4 - 32 3841 c.3391G>A c.(3391-3393)Gat>Aat p.D1131N MROH2B_ENST00000506092.2_Missense_Mutation_p.D686N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCGATGTCATCTTCTAACTCA 0.502000 21 31 0 0 0.000375601 0 0 SCN10A 6336 broad.mit.edu 37 3 38753718 38753718 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:38753718G>A ENST00000449082.2 - 22 4022 c.4023C>T c.(4021-4023)ttC>ttT p.F1341F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1341 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGACCCAGAAGAAGCTGCCAG 0.438000 52 46 0 0 0.000781405 0 0 SPEG 10290 broad.mit.edu 37 2 220356855 220356855 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:220356855T>A ENST00000312358.7 + 40 9616 c.9484T>A c.(9484-9486)Tat>Aat p.Y3162N SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 3162 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTCCCCGTTCTATGAGCCAGA 0.577000 13 24 0 0 0.00136819 0 0 RP11-192H23.4 0 broad.mit.edu 37 17 26941126 26941126 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:26941126G>A ENST00000534850.1 - 1 85 c.54C>T c.(52-54)acC>acT p.T18T RP11-192H23.4_ENST00000577790.1_Silent_p.T18T|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|SGK494_ENST00000301037.5_Silent_p.T18T endometrium(2)|kidney(2) 4 CAGCCACCCGGGTGTGTTCCC 0.607000 39 34 0 0 0.000781405 0 0 DYSF 8291 broad.mit.edu 37 2 71892338 71892338 + Missense_Mutation SNP C C T rs11558178 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:71892338C>T ENST00000258104.3 + 46 5381 c.5104C>T c.(5104-5106)Ctc>Ttc p.L1702F DYSF_ENST00000409762.1_Missense_Mutation_p.L1719F|DYSF_ENST00000409366.1_Missense_Mutation_p.L1724F|DYSF_ENST00000410020.3_Missense_Mutation_p.L1741F|DYSF_ENST00000429174.2_Missense_Mutation_p.L1723F|DYSF_ENST00000413539.2_Missense_Mutation_p.L1733F|DYSF_ENST00000409582.3_Missense_Mutation_p.L1740F|DYSF_ENST00000409744.1_Missense_Mutation_p.L1710F|DYSF_ENST00000409651.1_Missense_Mutation_p.L1734F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.L1703F|DYSF_ENST00000410041.1_Missense_Mutation_p.L1720F NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1702 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTCCCAGCTCCTCCACCTCTT 0.527000 30 49 0 0 0.000339439 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42107932 42107932 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:42107932C>T ENST00000457542.2 + 12 1714 c.1428C>T c.(1426-1428)atC>atT p.I476I MAPKBP1_ENST00000221214.6_Silent_p.I359I|MAPKBP1_ENST00000456763.2_Silent_p.I482I|MAPKBP1_ENST00000514566.1_Silent_p.I476I|MAPKBP1_ENST00000260357.7_Silent_p.I315I NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 482 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCGTGGGCATCCGCTCGGTGT 0.587000 12 16 0 0 0.000219431 0 0 SPINT2 10653 broad.mit.edu 37 19 38774365 38774365 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38774365G>A ENST00000301244.7 + 2 640 c.205G>A c.(205-207)Ggg>Agg p.G69R SPINT2_ENST00000587090.1_Missense_Mutation_p.G19R|SPINT2_ENST00000454580.3_Intron NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 69 BPTI/Kunitz inhibitor 1. cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GTTTGTGTATGGGGGCTGTGA 0.537000 44 56 0 0 0.00195071 0 0 ATXN2 6311 broad.mit.edu 37 12 111990746 111990746 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:111990746A>G ENST00000377617.3 - 4 1025 c.864T>C c.(862-864)ggT>ggC p.G288G ATXN2_ENST00000550104.1_Silent_p.G288G|ATXN2_ENST00000542287.2_Silent_p.G23G|ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000389153.4_Silent_p.G23G NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 288 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CTTCATATATACCTCCATTTT 0.294000 36 13 0 0 0.000437636 0 0 TRPC7 57113 broad.mit.edu 37 5 135692931 135692931 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:135692931C>T ENST00000513104.1 - 2 427 c.145G>A c.(145-147)Gac>Aac p.D49N TRPC7_ENST00000355180.3_Missense_Mutation_p.D49N|TRPC7_ENST00000426057.2_Missense_Mutation_p.D49N NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 49 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCAGCCGAGTCCAGGAAGCGC 0.602000 34 67 0 0 0.000814825 0 0 LEPREL2 10536 broad.mit.edu 37 12 6939701 6939701 + RNA SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:6939701T>C ENST00000251761.8 + 0 869 LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 CAGGGGGGCCTCTATGAGGCC 0.637000 9 2 0 0 0.000274275 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884947 12884947 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12884947C>T ENST00000535591.1 - 4 1359 c.1164G>A c.(1162-1164)tgG>tgA p.W388* NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 388 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CAAATCTGCTCCAGCAGAGAG 0.493000 111 141 0 0 0.000781405 0 0 IL2 3558 broad.mit.edu 37 4 123372940 123372940 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:123372940G>A ENST00000226730.4 - 4 713 c.429C>T c.(427-429)acC>acT p.T143T NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 143 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) TTTGACAAAAGGTAATCCATC 0.294000 T TNFRSF17 intestinal T-cell lymphoma 16 20 0 0 0.000295444 0 0 MORC1 27136 broad.mit.edu 37 3 108682267 108682267 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:108682267G>A ENST00000232603.5 - 27 2875 c.2793C>T c.(2791-2793)ctC>ctT p.L931L MORC1_ENST00000483760.1_Silent_p.L910L NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 931 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TCACCAGTTGGAGTTTCTGCA 0.378000 18 37 0 0 0.000295444 0 0 FGF11 2256 broad.mit.edu 37 17 7345123 7345123 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7345123C>T ENST00000293829.4 + 3 927 c.333C>T c.(331-333)ctC>ctT p.L111L FGF11_ENST00000575398.1_5'UTR|FGF11_ENST00000575331.1_5'UTR|FGF11_ENST00000572907.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'UTR|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575082.1_5'UTR NM_004112.2 NP_004103.1 Q92914 FGF11_HUMAN fibroblast growth factor 11 111 cell-cell signaling|nervous system development|signal transduction growth factor activity central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1) 6 Prostate(122;0.157) CTGTGGGCCTCCGTGTGGTCA 0.602000 13 16 0 0 0.00074312 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091420 19091420 + RNA SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:19091420T>A ENST00000365494.1 + 0 92 ggaagagaggtagcgttttct 0.493000 40 406 0 0 0.000509022 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713866 142713866 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:142713866C>T ENST00000369381.2 - 0 739 TTCATTTCTTCCTGATTATGA 0.303000 4 8 0 0 0.00116845 0 0 EMR3 84658 broad.mit.edu 37 19 14765810 14765810 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:14765810G>A ENST00000253673.5 - 6 661 c.561C>T c.(559-561)atC>atT p.I187I EMR3_ENST00000599900.1_Intron|EMR3_ENST00000344373.4_Silent_p.I135I|EMR3_ENST00000443157.2_Intron NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 187 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 TATCGTTTTGGATTTTCAGGA 0.413000 16 34 0 0 0.000566183 0 0 CDH8 1006 broad.mit.edu 37 16 61747832 61747832 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:61747832C>T ENST00000577390.1 - 10 2521 c.1567G>A c.(1567-1569)Gat>Aat p.D523N CDH8_ENST00000299345.6_Missense_Mutation_p.D523N|CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Missense_Mutation_p.D523N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 523 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTGGGATCATCTTTGTCCATG 0.378000 6 14 0 0 0.00116845 0 0 GPR115 221393 broad.mit.edu 37 6 47680197 47680197 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47680197C>T ENST00000283303.2 + 5 663 c.405C>T c.(403-405)atC>atT p.I135I GPR115_ENST00000327753.3_Silent_p.I135I|GPR115_ENST00000371220.1_Silent_p.I192I NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 135 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CTCAAGGAATCCGTAAGAACT 0.418000 25 63 0 0 0.000720815 0 0 DPT 1805 broad.mit.edu 37 1 168670275 168670275 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:168670275G>A ENST00000367817.3 - 3 608 c.519C>T c.(517-519)acC>acT p.T173T NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 173 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CAGAGAAAGTGGTTGTTGCTC 0.453000 84 65 0 0 0.000781405 0 0 FLG2 388698 broad.mit.edu 37 1 152323424 152323424 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:152323424C>T ENST00000388718.5 - 3 6910 c.6838G>A c.(6838-6840)Gga>Aga p.G2280R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2280 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTGAGATCCAGCTTGGCCC 0.512000 60 48 0 0 0.000781405 0 0 MUC13 56667 broad.mit.edu 37 3 124630988 124630988 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:124630988C>T ENST00000311075.3 - 9 1250 c.1211_splice c.e9-1 p.K404_splice NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 404 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 CAAATGCACACCTGAAATACA 0.433000 10 21 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179558353 179558353 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179558353A>G ENST00000589042.1 - 119 31801 c.31577T>C c.(31576-31578)gTt>gCt p.V10526A TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V10209A|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9282A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10209 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTGGTTCAACCCTTTTGGA 0.284000 12 8 0 0 0.000308642 0 0 GRIP2 80852 broad.mit.edu 37 3 14564381 14564381 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:14564381G>A ENST00000273083.3 - 0 632 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 caccgggcagggagtgttccc 0.577000 4 7 0 0 0.00024832 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702055 187702055 + Missense_Mutation SNP G G A rs149540467 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:187702055G>A ENST00000295131.2 - 5 760 c.721C>T c.(721-723)Cca>Tca p.P241S NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 241 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCCTCAATTGGAAACTGTTTG 0.358000 8 11 0 0 0.000442599 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102493982 102493982 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:102493982G>A ENST00000321521.9 + 15 2153 c.1580G>A c.(1579-1581)gGa>gAa p.G527E PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G527E|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G527E O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 527 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GAAGAACTTGGAAGAGCCTTC 0.388000 7 15 0 0 8.12818e-05 0 0 CCDC54 84692 broad.mit.edu 37 3 107096864 107096864 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:107096864G>A ENST00000261058.1 + 1 677 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 144 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GACAGAACTGGAAATTCAGAA 0.388000 25 21 0 0 0.000375601 0 0 OR2L8 391190 broad.mit.edu 37 1 248112261 248112261 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248112261C>T ENST00000357191.3 + 1 102 c.102C>T c.(100-102)ttC>ttT p.F34F OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTTTCATTTTCCTGATGGCTC 0.398000 81 52 0 0 0.000781405 0 0 EGR3 1960 broad.mit.edu 37 8 22548290 22548290 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:22548290C>T ENST00000317216.2 - 2 1217 c.860G>A c.(859-861)aGc>aAc p.S287N EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.S249N|EGR3_ENST00000519492.1_3'UTR NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 287 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GTCCGAACGGCTGAAACGGCG 0.697000 22 31 0 0 0.00188189 0 0 ZNF345 25850 broad.mit.edu 37 19 37368585 37368585 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:37368585C>T ENST00000529555.1 + 2 1641 c.853C>T c.(853-855)Cct>Tct p.P285S ZNF345_ENST00000589046.1_Missense_Mutation_p.P285S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.P285S|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 285 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGTGAGAAACCTTATGTATG 0.403000 24 41 0 0 0.00106085 0 0 EDAR 10913 broad.mit.edu 37 2 109547439 109547439 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:109547439G>A ENST00000409271.1 - 3 475 c.32C>T c.(31-33)cCc>cTc p.P11L EDAR_ENST00000258443.2_Missense_Mutation_p.P11L|EDAR_ENST00000376651.1_Missense_Mutation_p.P11L Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 11 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GGGGAGCCAGGGCGTCTGCGT 0.612000 21 47 0 0 0.00152264 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722081 64722081 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:64722081C>T ENST00000338957.4 + 5 1570 c.1503C>T c.(1501-1503)ccC>ccT p.P501P ZC3H12B_ENST00000423889.3_Silent_p.P490P NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 490 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCATTTCCCCCACCAGAAGG 0.567000 47 13 0 0 0.000781405 0 0 C1orf173 127254 broad.mit.edu 37 1 75086533 75086533 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:75086533C>T ENST00000326665.5 - 8 1103 c.885G>A c.(883-885)ggG>ggA p.G295G RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.G98G NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 295 p.G295G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCACATTTTTCCCCAAATAGA 0.363000 11 15 0 0 0.000673444 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98492775 98492775 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:98492775C>T ENST00000265261.6 + 6 447 c.25C>T c.(25-27)Cga>Tga p.R9* ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000394162.1_Nonsense_Mutation_p.R95*|ST3GAL6_ENST00000468553.1_Nonsense_Mutation_p.R95*|ST3GAL6_ENST00000483910.1_Nonsense_Mutation_p.R95* NM_001271147.1 NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 95 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity p.R95*(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 GGAATATTTTCGACTTGCTCT 0.378000 26 48 0 0 0.001512 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401533 11401533 + Nonsense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:11401533T>A ENST00000002596.5 - 2 1271 c.97A>T c.(97-99)Aaa>Taa p.K33* NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 33 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GTCCCCGCTTTCCGCAGAAGC 0.706000 6 8 0 0 8.12818e-05 0 0 GDI2 2665 broad.mit.edu 37 10 5815815 5815815 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:5815815G>A ENST00000380191.4 - 7 1099 c.809C>T c.(808-810)tCt>tTt p.S270F GDI2_ENST00000380181.3_Missense_Mutation_p.S225F|GDI2_ENST00000380132.4_Missense_Mutation_p.S274F NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 270 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 TTCTCCTTCAGATTTTACACC 0.313000 23 56 0 0 0.000375601 0 0 ZNF563 147837 broad.mit.edu 37 19 12429625 12429625 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:12429625G>A ENST00000293725.5 - 4 1419 c.1214C>T c.(1213-1215)cCt>cTt p.P405L NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACATACACTAGGATAAACAAA 0.413000 67 76 0 0 0.000781405 0 0 ZMYND15 84225 broad.mit.edu 37 17 4646597 4646597 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:4646597G>A ENST00000433935.1 + 6 1201 c.e6-1 ZMYND15_ENST00000573751.2_Splice_Site|ZMYND15_ENST00000269289.6_Splice_Site|ZMYND15_ENST00000592813.1_Splice_Site NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 TCCTTCTCCAGAGGTGACCAG 0.542000 57 75 0 0 0.000781405 0 0 PPP1R11 6992 broad.mit.edu 37 6 30036459 30036459 + Silent SNP C C T rs140805312 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:30036459C>T ENST00000376772.3 + 2 485 c.162C>T c.(160-162)ggC>ggT p.G54G PPP1R11_ENST00000376769.2_Silent_p.G2G|PPP1R11_ENST00000376765.2_Silent_p.G2G|PPP1R11_ENST00000376773.1_Silent_p.G2G|PPP1R11_ENST00000376763.1_Silent_p.G2G|PPP1R11_ENST00000376758.1_Silent_p.G2G NM_021959.2 NP_068778.1 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 11 54 soluble fraction protein binding|protein phosphatase inhibitor activity lung(2)|ovary(1)|prostate(1)|skin(2) 6 AACACATGGGCCGCCGCTCAT 0.498000 31 59 0 0 0.00178596 0 0 ZFP64 55734 broad.mit.edu 37 20 50701609 50701609 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:50701609C>T ENST00000361387.2 - 9 1485 c.1425G>A c.(1423-1425)caG>caA p.Q475Q ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.Q256Q NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGTCCCGGCCCTGGAAGGCAC 0.627000 25 60 0 0 0.000720815 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022597 20022597 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:20022597A>T ENST00000440926.1 - 10 1350 c.880T>A c.(880-882)Ttt>Att p.F294I SLC18A1_ENST00000276373.5_Missense_Mutation_p.F294I|SLC18A1_ENST00000437980.1_Missense_Mutation_p.F294I|SLC18A1_ENST00000381608.4_Missense_Mutation_p.F294I|SLC18A1_ENST00000265808.7_Missense_Mutation_p.F294I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.F294I NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 294 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AGAAGCATAAAGAGGGGAGTC 0.498000 28 33 0 0 0.000409698 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159605601 159605601 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:159605601A>T ENST00000337808.6 + 5 1678 c.1101A>T c.(1099-1101)gaA>gaT p.E367D IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E416D|SCHIP1_ENST00000482804.1_Missense_Mutation_p.E140D|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E443D|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.E327D|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.E354D|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.E135D|SCHIP1_ENST00000445224.2_Missense_Mutation_p.E124D NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 367 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 TGCAAGCTGAAGCCAAAATGG 0.443000 49 72 0 0 0.000781405 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672495 108672495 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:108672495C>T ENST00000261047.3 - 1 247 c.115G>A c.(115-117)Gaa>Aaa p.E39K GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 39 EF-hand 1. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 GTCTTAAATTCATGTAGTGTT 0.388000 46 60 0 0 0.000781405 0 0 EGFR 1956 broad.mit.edu 37 7 55268067 55268067 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:55268067C>T ENST00000275493.2 + 24 3084 c.2907C>T c.(2905-2907)tcC>tcT p.S969S EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.S916S|EGFR_ENST00000455089.1_Silent_p.S924S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 969 Protein kinase. 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 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) TCGAATTCTCCAAAATGGCCC 0.483000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 36 41 0 0 0.000437636 0 0 GPR108 56927 broad.mit.edu 37 19 6733031 6733031 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6733031G>A ENST00000264080.7 - 10 926 c.900C>T c.(898-900)gcC>gcT p.A300A GPR108_ENST00000430424.4_Silent_p.A58A NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 300 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 TCTTGGTGAAGGCCAAGGCCG 0.637000 3 7 0 0 6.4e-05 0 0 FGA 2243 broad.mit.edu 37 4 155507586 155507586 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:155507586C>T ENST00000302053.3 - 5 1073 c.995G>A c.(994-996)gGa>gAa p.G332E FGA_ENST00000403106.3_Missense_Mutation_p.G332E NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 332 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTTCCAGCTTCCAGTACTTCC 0.567000 10 20 0 0 0.00185496 0 0 CEP72 55722 broad.mit.edu 37 5 639225 639225 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:639225G>A ENST00000264935.5 + 8 1318 c.1228G>A c.(1228-1230)Gct>Act p.A410T CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 410 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GTCACACTCGGCTCTACCCGG 0.642000 18 30 0 0 0.000566183 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29976015 29976015 + RNA SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29976015T>C ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA ACATGAGGCATAACGAGGTCC 0.587000 7 12 0 0 8.12818e-05 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884232 205884232 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:205884232G>A ENST00000367134.2 - 22 2565 c.2452C>T c.(2452-2454)Ctg>Ttg p.L818L SLC26A9_ENST00000340781.4_Silent_p.L818L|SLC26A9_ENST00000367135.3_3'UTR NM_134325.2 NP_599152.2 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 0 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) ATTGCGGCCAGGGCCTGACGG 0.612000 44 43 0 0 0.000781405 0 0 IGSF22 283284 broad.mit.edu 37 11 18730970 18730970 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:18730970C>T ENST00000513874.1 - 18 3101 c.2962G>A c.(2962-2964)Gag>Aag p.E988K RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 887 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTGTCTAGCTCCACAGGCTCC 0.577000 36 8 0 0 0.00170553 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77359844 77359844 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:77359844G>A ENST00000282849.5 - 13 2369 c.1951C>T c.(1951-1953)Cgg>Tgg p.R651W NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 651 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGTTGAGCCCGAAAATCCAAG 0.423000 9 3 0 0 0.000274275 0 0 OR7D2 162998 broad.mit.edu 37 19 9296799 9296799 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9296799C>T ENST00000344248.2 + 1 521 c.342C>T c.(340-342)ctC>ctT p.L114L NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 114 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 ACACGCTACTCCTGACCGTGA 0.507000 52 81 0 0 0.000781405 0 0 SEPT6 23157 broad.mit.edu 37 X 118786967 118786967 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:118786967G>A ENST00000394610.1 - 4 642 c.378C>T c.(376-378)ttC>ttT p.F126F SEPT6_ENST00000354416.3_Silent_p.F126F|SEPT6_ENST00000354228.4_Silent_p.F126F|SEPT6_ENST00000489216.1_Silent_p.F126F|SEPT6_ENST00000394616.4_Silent_p.F68F|SEPT6_ENST00000394617.2_Silent_p.F156F|SEPT6_ENST00000343984.5_Silent_p.F126F|SEPT6_ENST00000360156.7_Silent_p.F126F NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 126 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GGTAGGCCTCGAATTGTGCAT 0.502000 T MLL AML 36 6 0 0 0.000437636 0 0 MAP3K12 7786 broad.mit.edu 37 12 53879190 53879190 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:53879190C>T ENST00000267079.2 - 6 1017 c.792G>A c.(790-792)aaG>aaA p.K264K MAP3K12_ENST00000547488.1_Silent_p.K297K|MAP3K12_ENST00000547035.1_Silent_p.K297K NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 264 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TCTTGGTGCTCTTGTCACTCA 0.517000 154 18 0 0 0.000781405 0 0 FHL5 9457 broad.mit.edu 37 6 97052706 97052706 + Silent SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:97052706T>C ENST00000326771.2 + 4 620 c.240T>C c.(238-240)ccT>ccC p.P80P FHL5_ENST00000541107.1_Silent_p.P80P NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 80 LIM zinc-binding 1. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TGGAAAAGCCTTTTGCTGCCA 0.488000 27 11 0 0 0.00178596 0 0 KLHL6 89857 broad.mit.edu 37 3 183217613 183217613 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:183217613G>A ENST00000341319.3 - 4 947 c.912C>T c.(910-912)atC>atT p.I304I NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 304 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GTTCCGAAATGATCTGGAAAT 0.522000 7 10 0 0 8.12818e-05 0 0 SYT16 83851 broad.mit.edu 37 14 62463105 62463105 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:62463105G>A ENST00000430451.2 + 1 565 c.368G>A c.(367-369)tGg>tAg p.W123* SYT16_ENST00000446982.2_Nonsense_Mutation_p.W123* NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 123 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATGTCCCAGTGGCCCAATTGG 0.463000 9 13 0 0 0.000442599 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156917573 156917573 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:156917573C>T ENST00000368194.3 - 25 3368 c.2329G>A c.(2329-2331)Gag>Aag p.E777K ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E153K|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E737K NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 737 DH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTGATGACCTCTTGCCGGTCA 0.572000 33 23 0 0 0.000692331 0 0 GRIK2 2898 broad.mit.edu 37 6 102134192 102134192 + Silent SNP G G A rs145542805 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:102134192G>A ENST00000369138.1 + 6 1405 c.915G>A c.(913-915)ccG>ccA p.P305P GRIK2_ENST00000358361.3_Silent_p.P305P|GRIK2_ENST00000369137.3_Silent_p.P305P|GRIK2_ENST00000421544.1_Silent_p.P305P|GRIK2_ENST00000413795.1_Silent_p.P305P|GRIK2_ENST00000318991.6_Silent_p.P305P|GRIK2_ENST00000369134.4_Silent_p.P256P NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 305 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGGCACCTCCGAAACCCGATT 0.393000 26 5 0 0 0.00127121 0 0 PAPOLG 64895 broad.mit.edu 37 2 61002230 61002230 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:61002230C>T ENST00000238714.3 + 8 915 c.666C>T c.(664-666)acC>acT p.T222T NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 222 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) TTAGACTCACCCTAAGAGCTG 0.323000 12 45 0 0 0.00185496 0 0 OR5T1 390155 broad.mit.edu 37 11 56043769 56043769 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56043769G>A ENST00000313033.2 + 1 741 c.655G>A c.(655-657)Gag>Aag p.E219K NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGGCTCTATTGAGATAGTCAC 0.413000 31 52 0 0 0.000339439 0 0 FUT10 84750 broad.mit.edu 37 8 33230301 33230301 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:33230301C>T ENST00000327671.5 - 5 1865 c.1234G>A c.(1234-1236)Gag>Aag p.E412K FUT10_ENST00000518672.1_Missense_Mutation_p.E384K|FUT10_ENST00000524021.1_Missense_Mutation_p.E384K NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 412 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TCTTCTGCCTCCCATCTTTTG 0.453000 16 14 0 0 0.000566183 0 0 ZNF320 162967 broad.mit.edu 37 19 53384412 53384412 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53384412G>A ENST00000595635.1 - 8 1468 c.967C>T c.(967-969)Cac>Tac p.H323Y ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H323Y NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TCTCCAGTGTGAACTCTACGA 0.408000 21 39 0 0 0.00152264 0 0 KMT2E 55904 broad.mit.edu 37 7 104741913 104741913 + Silent SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:104741913T>C ENST00000334877.4 + 16 2298 c.1764T>C c.(1762-1764)ttT>ttC p.F588F KMT2E_ENST00000257745.4_Silent_p.F588F|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Silent_p.F588F lysine (K)-specific methyltransferase 2E TGCAAGCTTTTGCCAGACTTG 0.313000 30 39 0 0 0.000339439 0 0 ZNF345 25850 broad.mit.edu 37 19 37368586 37368586 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:37368586C>T ENST00000529555.1 + 2 1642 c.854C>T c.(853-855)cCt>cTt p.P285L ZNF345_ENST00000589046.1_Missense_Mutation_p.P285L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.P285L|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 285 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTGAGAAACCTTATGTATGT 0.408000 23 39 0 0 0.000878237 0 0 ACAN 176 broad.mit.edu 37 15 89392722 89392722 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:89392722G>A ENST00000439576.2 + 10 2160 c.1786G>A c.(1786-1788)Gag>Aag p.E596K ACAN_ENST00000561243.1_Missense_Mutation_p.E596K|ACAN_ENST00000559004.1_Missense_Mutation_p.E596K|ACAN_ENST00000558207.1_Missense_Mutation_p.E596K|ACAN_ENST00000352105.7_Missense_Mutation_p.E596K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 596 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAAGCACTGGAGTTCTGTGA 0.632000 6 12 0 0 8.12818e-05 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46917580 46917580 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:46917580C>T ENST00000378797.2 - 14 2379 c.1775G>A c.(1774-1776)gGt>gAt p.G592D KIAA0226L_ENST00000378787.3_Missense_Mutation_p.G592D|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000322896.6_Silent_p.R486R|KIAA0226L_ENST00000389908.3_Silent_p.R643R|KIAA0226L_ENST00000429979.1_Silent_p.R643R|KIAA0226L_ENST00000378784.4_Silent_p.R576R|KIAA0226L_ENST00000409879.2_Silent_p.R486R|KIAA0226L_ENST00000534925.1_Silent_p.R508R Q9H714 CM018_HUMAN KIAA0226-like 0 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TCCTCGCACACCGGGGGCACT 0.517000 7 19 0 0 0.000157383 0 0 GH2 2689 broad.mit.edu 37 17 61957616 61957616 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:61957616G>A ENST00000456543.2 - 5 755 c.715C>T c.(715-717)Cag>Tag p.Q239* GH2_ENST00000449787.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000423893.2_3'UTR P01242 SOM2_HUMAN growth hormone 2 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GGTGGGCACTGGAGTAGCACC 0.552000 16 13 0 0 0.000308642 0 0 HAPLN2 60484 broad.mit.edu 37 1 156594495 156594495 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:156594495G>A ENST00000255039.1 + 6 1066 c.659G>A c.(658-660)cGg>cAg p.R220Q HAPLN2_ENST00000494218.1_3'UTR NM_021817.2 NP_068589.1 Q9GZV7 HPLN2_HUMAN hyaluronan and proteoglycan link protein 2 220 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 7 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCCGAGGCCGGCCCGGGATC 0.741000 6 10 0 0 0.00116845 0 0 POLE 5426 broad.mit.edu 37 12 133225520 133225520 + Missense_Mutation SNP G G A rs5744904 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:133225520G>A ENST00000320574.5 - 32 4187 c.4144C>T c.(4144-4146)Cgc>Tgc p.R1382C POLE_ENST00000535270.1_Missense_Mutation_p.R1355C NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1382 R -> C (in dbSNP:rs5744904). base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCTACCTTGCGATACGAAGCA 0.602000 DNA polymerases (catalytic subunits) 55 9 0 0 0.000781405 0 0 ITGB4 3691 broad.mit.edu 37 17 73746842 73746842 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73746842C>T ENST00000200181.3 + 29 3743 c.3556C>T c.(3556-3558)Ctg>Ttg p.L1186L ITGB4_ENST00000339591.3_Silent_p.L1186L|ITGB4_ENST00000579662.1_Silent_p.L1186L|ITGB4_ENST00000449880.2_Silent_p.L1186L|ITGB4_ENST00000450894.3_Silent_p.L1186L NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1186 Fibronectin type-III 1. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTCACCAACCTGTACCCGTA 0.617000 26 57 0 0 0.001512 0 0 DNAH5 1767 broad.mit.edu 37 5 13753464 13753464 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:13753464C>T ENST00000265104.4 - 63 10854 c.10750G>A c.(10750-10752)Gat>Aat p.D3584N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3584 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GACAAGTCATCATTTGGCAGA 0.388000 Kartagener syndrome 12 29 0 0 0.000978159 0 0 KIAA1467 57613 broad.mit.edu 37 12 13219709 13219709 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:13219709C>T ENST00000197268.8 + 6 1108 c.988C>T c.(988-990)Ctg>Ttg p.L330L NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 330 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TGTCTACATCCTGTTTGGCTT 0.493000 30 5 0 0 0.00058488 0 0 HEATR5B 54497 broad.mit.edu 37 2 37285625 37285625 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:37285625G>A ENST00000233099.5 - 14 2123 c.2028C>T c.(2026-2028)atC>atT p.I676I HEATR5B_ENST00000354531.2_Silent_p.I676I NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 676 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) ACAAAGCCAAGATATCATAAA 0.318000 24 36 0 0 0.000720815 0 0 KAT2B 8850 broad.mit.edu 37 3 20193934 20193934 + Nonsense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:20193934G>T ENST00000263754.4 + 18 2871 c.2416G>T c.(2416-2418)Gag>Tag p.E806* NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 806 Bromo. cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CAACCCCCCTGAGAGTGAATA 0.393000 12 19 4.3838e-07 2.78009e-06 0.00185496 1 0 MYO1D 4642 broad.mit.edu 37 17 30821872 30821872 + Nonsense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:30821872T>A ENST00000318217.5 - 22 3230 c.2926A>T c.(2926-2928)Aag>Tag p.K976* MYO1D_ENST00000394649.4_Nonsense_Mutation_p.K888* NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 976 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) ACGGTGCACTTCTTCCCGTGC 0.612000 6 19 0 0 8.12818e-05 0 0 FLT3 2322 broad.mit.edu 37 13 28622539 28622539 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:28622539C>T ENST00000380982.4 - 9 1159 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K FLT3_ENST00000537084.1_Missense_Mutation_p.E360K|FLT3_ENST00000241453.7_Missense_Mutation_p.E360K P36888 FLT3_HUMAN fms-related tyrosine kinase 3 360 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGGTCAATTTCATAATCTTCA 0.323000 """Mis, O""" """AML, ALL""" 29 27 0 0 0.00106085 0 0 ARSA 410 broad.mit.edu 37 22 51064664 51064664 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:51064664G>A ENST00000547307.1 - 5 1296 c.891C>T c.(889-891)ctC>ctT p.L297L ARSA_ENST00000547805.1_Silent_p.L297L|ARSA_ENST00000395621.3_Silent_p.L299L|ARSA_ENST00000453344.2_Silent_p.L213L|ARSA_ENST00000216124.5_Silent_p.L299L|ARSA_ENST00000395619.3_Silent_p.L299L|ARSA_ENST00000356098.5_Silent_p.L299L P15289 ARSA_HUMAN arylsulfatase A 297 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CACACCGCAAGAGACCGGAGC 0.652000 14 15 0 0 0.000219431 0 0 C2orf16 84226 broad.mit.edu 37 2 27801313 27801313 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27801313G>A ENST00000408964.2 + 1 1925 c.1874G>A c.(1873-1875)gGa>gAa p.G625E NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 625 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CTAGAATCAGGAATTGAAGCA 0.423000 18 24 0 0 0.00074312 0 0 CD200R1L 344807 broad.mit.edu 37 3 112546307 112546307 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:112546307G>A ENST00000488794.1 - 5 863 c.274C>T c.(274-276)Cgt>Tgt p.R92C CD200R1L_ENST00000398214.1_Missense_Mutation_p.R113C|CD200R1L_ENST00000448932.1_Missense_Mutation_p.R92C Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 113 Ig-like V-type. integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 TCCACCGGACGAATCTGAAGG 0.458000 33 30 0 0 0.000491102 0 0 ARMCX1 51309 broad.mit.edu 37 X 100807961 100807961 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:100807961C>T ENST00000372829.3 + 4 419 c.48C>T c.(46-48)atC>atT p.I16I NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 16 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 GTGTGGTTATCGGGGCTGGTG 0.572000 26 5 0 0 0.000878237 0 0 IL12B 3593 broad.mit.edu 37 5 158753751 158753751 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:158753751C>T ENST00000231228.2 - 2 495 c.40G>A c.(40-42)Gtt>Att p.V14I NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 14 cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCCAGAAAAACCAGGGAAAAC 0.488000 26 40 0 0 0.001512 0 0 LRCH4 4034 broad.mit.edu 37 7 100175320 100175320 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:100175320G>A ENST00000310300.6 - 9 1135 c.1083C>T c.(1081-1083)gtC>gtT p.V361V LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 361 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTCCCCGGGGACATGGCTGT 0.662000 45 75 0 0 0.000781405 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249246 90249246 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:90249246C>T ENST00000468879.1 + 0 383 AGCCCCTAAGCTCTTCATCTA 0.502000 47 61 0 0 0.000781405 0 0 MACF1 23499 broad.mit.edu 37 1 39824417 39824417 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:39824417C>T ENST00000564288.1 + 46 12769 c.11992C>T c.(11992-11994)Caa>Taa p.Q3998* MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4035*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q1936*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q1936*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q2438*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q1936*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q4003*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q1936* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4003 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGTATCATCAATTCCAAAA 0.507000 29 40 0 0 0.00106085 0 0 DNAH7 56171 broad.mit.edu 37 2 196689005 196689005 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:196689005G>A ENST00000312428.6 - 49 9365 c.9265C>T c.(9265-9267)Cat>Tat p.H3089Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3089 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGAAGATAATGAGGATTTCTT 0.368000 20 38 0 0 0.00188189 0 0 GPALPP1 55425 broad.mit.edu 37 13 45594491 45594491 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:45594491C>T ENST00000361121.2 + 7 767 c.732C>T c.(730-732)tcC>tcT p.S244S KIAA1704_ENST00000357537.3_Silent_p.S74S|KIAA1704_ENST00000379151.4_Silent_p.S244S|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 244 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) GGAAGTCATCCAGTAAGAAAG 0.299000 64 96 0 0 0.000781405 0 0 PDE8B 8622 broad.mit.edu 37 5 76645346 76645346 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:76645346C>T ENST00000264917.5 + 8 1024 c.979C>T c.(979-981)Ctt>Ttt p.L327F PDE8B_ENST00000342343.4_Missense_Mutation_p.L307F|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.L327F NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 327 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CCGGGCAGACCTTCTCGACAC 0.493000 47 75 0 0 0.000781405 0 0 VAV1 7409 broad.mit.edu 37 19 6820766 6820766 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6820766C>T ENST00000304076.2 + 2 352 c.258C>T c.(256-258)ttC>ttT p.F86F VAV1_ENST00000599806.1_Silent_p.F31F|VAV1_ENST00000596764.1_Silent_p.F86F|VAV1_ENST00000539284.1_Silent_p.F21F|VAV1_ENST00000602142.1_Silent_p.F86F NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 86 CH.|Leu-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GTGAGAAGTTCGGCCTCAAGC 0.522000 51 76 0 0 0.000781405 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026412 129026412 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:129026412G>A ENST00000259241.6 - 2 573 c.560C>T c.(559-561)cCc>cTc p.P187L NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 187 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GCGGGACACGGGGTCTCGTAG 0.632000 19 23 0 0 0.00121646 0 0 SETBP1 26040 broad.mit.edu 37 18 42530559 42530559 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:42530559G>A ENST00000282030.5 + 4 1550 c.1254G>A c.(1252-1254)agG>agA p.R418R NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 418 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ACCATAAGAGGAAAAAAAGAC 0.453000 Schinzel-Giedion syndrome 26 41 0 0 0.00106085 0 0 CD2AP 23607 broad.mit.edu 37 6 47541941 47541941 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47541941G>A ENST00000359314.5 + 6 1139 c.683G>A c.(682-684)cGg>cAg p.R228Q NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 228 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) GTGAAACTTCGGACAAGAACA 0.378000 59 43 0 0 0.000781405 0 0 IFNG 3458 broad.mit.edu 37 12 68551714 68551714 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:68551714G>A ENST00000229135.3 - 3 476 c.345C>T c.(343-345)ttC>ttT p.F115F IFNG-AS1_ENST00000536914.1_RNA NM_000619.2 NP_000610.2 P01579 IFNG_HUMAN interferon, gamma 115 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding p.F115F(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) TCAGCTTTTCGAAGTCATCTC 0.368000 69 15 0 0 0.000781405 0 0 PHYH 5264 broad.mit.edu 37 10 13323103 13323103 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:13323103G>A ENST00000396920.3 - 8 1189 c.785C>T c.(784-786)tCc>tTc p.S262F PHYH_ENST00000396913.2_Missense_Mutation_p.S179F|PHYH_ENST00000263038.4_Missense_Mutation_p.S279F O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 279 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) GAAATGGCAGGAAATTGCCTG 0.403000 16 37 0 0 0.000958276 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204410671 204410671 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:204410671G>A ENST00000367187.3 - 22 3733 c.3177C>T c.(3175-3177)tcC>tcT p.S1059S PIK3C2B_ENST00000424712.2_Silent_p.S1031S NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1059 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGACAGCATTGGAGTTGAAGT 0.502000 59 27 0 0 0.000781405 0 0 ANK3 288 broad.mit.edu 37 10 61955965 61955965 + Missense_Mutation SNP C C G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:61955965C>G ENST00000280772.1 - 16 2016 c.1825G>C c.(1825-1827)Gat>Cat p.D609H ANK3_ENST00000373827.2_Missense_Mutation_p.D603H|ANK3_ENST00000503366.1_Missense_Mutation_p.D592H NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 609 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTCTGATTATCGTAATGTGCA 0.483000 14 18 0 0 0.000219431 0 0 CCDC178 374864 broad.mit.edu 37 18 30926194 30926194 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:30926194G>A ENST00000383096.3 - 9 821 c.639C>T c.(637-639)ctC>ctT p.L213L CCDC178_ENST00000300227.8_Silent_p.L213L|CCDC178_ENST00000579947.1_Silent_p.L213L|CCDC178_ENST00000583930.1_Silent_p.L213L|CCDC178_ENST00000403303.1_Silent_p.L213L|CCDC178_ENST00000402325.1_Silent_p.L213L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Silent_p.L213L coiled-coil domain containing 178 CAGCCAATGGGAGTTCTTGAA 0.348000 22 43 0 0 0.000375601 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726062 53726062 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:53726062G>A ENST00000262135.4 - 4 538 c.445C>T c.(445-447)Cca>Tca p.P149S RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P149S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.P149S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P149S NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 149 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TTATTGTATGGAGTTTGCCTG 0.393000 203 350 0 0 0.000781405 0 0 TC2N 123036 broad.mit.edu 37 14 92268723 92268723 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:92268723G>A ENST00000435962.2 - 4 667 c.344C>T c.(343-345)tCc>tTc p.S115F TC2N_ENST00000340892.5_Missense_Mutation_p.S115F|TC2N_ENST00000360594.5_Missense_Mutation_p.S115F|TC2N_ENST00000556018.1_Missense_Mutation_p.S115F NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 115 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GGATGAACTGGAAAGTTCTAC 0.413000 11 31 0 0 0.000219431 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579685 44579685 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:44579685G>A ENST00000289547.4 - 2 366 c.311C>T c.(310-312)tCg>tTg p.S104L NPC1L1_ENST00000546276.1_Missense_Mutation_p.S104L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S104L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.S104L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 104 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTTGGTGATCGACAGACTCGC 0.587000 12 22 0 0 0.000308642 0 0 ASXL3 80816 broad.mit.edu 37 18 31318854 31318854 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:31318854G>A ENST00000269197.5 + 11 1486 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGCACCTCCTGAAGATAACTT 0.388000 14 20 0 0 0.000422831 0 0 WNT4 54361 broad.mit.edu 37 1 22456166 22456166 + Missense_Mutation SNP G G C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:22456166G>C ENST00000290167.6 - 2 299 c.256C>G c.(256-258)Cgc>Ggc p.R86G WNT4_ENST00000542383.1_Missense_Mutation_p.R31G NM_030761.4 NP_110388.2 P56705 WNT4_HUMAN wingless-type MMTV integration site family, member 4 86 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CAGTTCCAGCGCCGGTTCCGG 0.662000 9 26 0 0 0.000274275 0 0 BIRC3 330 broad.mit.edu 37 11 102207520 102207520 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:102207520G>A ENST00000263464.3 + 8 4359 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K BIRC3_ENST00000532808.1_Missense_Mutation_p.E537K NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 537 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TATTCCCACAGAAGATGTTTC 0.269000 T MALT1 MALT 26 34 0 0 0.001512 0 0 EN1 2019 broad.mit.edu 37 2 119604387 119604387 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:119604387C>T ENST00000295206.6 - 1 867 c.357G>A c.(355-357)aaG>aaA p.K119K NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 119 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GCGGCTGCTCCTTTTTGCAGC 0.677000 24 46 0 0 0.000720815 0 0 FBXO38 81545 broad.mit.edu 37 5 147796606 147796606 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:147796606C>T ENST00000340253.5 + 12 1625 c.1457C>T c.(1456-1458)tCa>tTa p.S486L FBXO38_ENST00000296701.6_Missense_Mutation_p.S486L|FBXO38_ENST00000513826.1_Missense_Mutation_p.S486L|FBXO38_ENST00000394370.3_Missense_Mutation_p.S486L Q6PIJ6 FBX38_HUMAN F-box protein 38 486 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTTTCATCAGCTCTTGTT 0.413000 5 15 0 0 8.12818e-05 0 0 IL12RB1 3594 broad.mit.edu 37 19 18180356 18180356 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:18180356C>T ENST00000600835.1 - 11 1492 c.1189_splice c.e11+1 p.A397_splice IL12RB1_ENST00000593993.1_Splice_Site_p.A397_splice|IL12RB1_ENST00000430026.2_Splice_Site_p.A397_splice P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 397 Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 AGGCCATTACCCATTCCAGCC 0.622000 7 10 0 0 8.12818e-05 0 0 BAGE2 85319 broad.mit.edu 37 21 11058331 11058331 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:11058331G>A ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCGCTGAAAGGGGTAAAGGAG 0.378000 10 107 0 0 0.00136819 0 0 UNC13C 440279 broad.mit.edu 37 15 54306557 54306557 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:54306557C>T ENST00000545554.1 + 1 1457 c.1457C>T c.(1456-1458)tCa>tTa p.S486L UNC13C_ENST00000260323.11_Missense_Mutation_p.S486L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S486L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 486 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGCTCAAAATCACACAGTGCT 0.378000 13 18 0 0 0.00136819 0 0 TFPT 29844 broad.mit.edu 37 19 54611338 54611338 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54611338C>T ENST00000391759.1 - 5 1042 c.637G>A c.(637-639)Gtg>Atg p.V213M TFPT_ENST00000391757.1_3'UTR|TFPT_ENST00000391758.1_Missense_Mutation_p.V204M|NDUFA3_ENST00000391764.3_Intron NM_013342.3 NP_037474.1 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner (in childhood Leukemia) 213 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) CTCACCTGCACCGGGGCCAGC 0.711000 T TCF3 pre-B ALL 18 40 0 0 0.000295444 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900428 151900428 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:151900428G>A ENST00000393900.3 - 3 726 c.373C>T c.(373-375)Cga>Tga p.R125* CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Nonsense_Mutation_p.R125*|MAGEA12_ENST00000393869.3_Nonsense_Mutation_p.R125* NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 125 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TCCCTGGCTCGATACTTGAGG 0.498000 52 12 0 0 0.000781405 0 0 SZT2 23334 broad.mit.edu 37 1 43907442 43907442 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:43907442C>T ENST00000562955.1 + 54 7524 c.7524C>T c.(7522-7524)gtC>gtT p.V2508V SZT2_ENST00000372442.1_Silent_p.V1666V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2565 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCGCACTGGTCACCTCAATGG 0.527000 19 37 0 0 0.00121646 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38590622 38590622 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38590622C>T ENST00000222345.6 + 5 2195 c.1686C>T c.(1684-1686)tcC>tcT p.S562S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 562 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGCGGGGCTCCATCCTGGAAG 0.572000 22 29 0 0 0.000586117 0 0 SI 6476 broad.mit.edu 37 3 164773008 164773008 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:164773008C>T ENST00000264382.3 - 13 1548 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 496 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATTGCACTTCTTGATGGAAA 0.348000 HNSCC(35;0.089) 8 23 0 0 0.000274275 0 0 SNRPN 6638 broad.mit.edu 37 15 25220561 25220561 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:25220561C>T ENST00000444203.2 + 3 1111 c.72C>T c.(70-72)atC>atT p.I24I SNRPN_ENST00000554227.2_Silent_p.I24I|SNRPN_ENST00000400097.1_Silent_p.I20I|SNRPN_ENST00000390687.4_Silent_p.I20I|SNRPN_ENST00000346403.6_Silent_p.I20I|SNRPN_ENST00000400098.1_Silent_p.I20I|SNRPN_ENST00000400100.1_Silent_p.I20I|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Silent_p.I20I P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 20 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TGAGATGTATCCTGCAAGATG 0.423000 Prader-Willi syndrome 33 60 0 0 0.00058488 0 0 ANK1 286 broad.mit.edu 37 8 41530158 41530158 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:41530158C>T ENST00000396942.1 - 38 4893 c.4810G>A c.(4810-4812)Ggg>Agg p.G1604R ANK1_ENST00000289734.7_Missense_Mutation_p.G1604R|ANK1_ENST00000396945.1_Missense_Mutation_p.G1604R|ANK1_ENST00000265709.8_Missense_Mutation_p.G1645R|ANK1_ENST00000347528.4_Missense_Mutation_p.G1604R|ANK1_ENST00000379758.2_Missense_Mutation_p.G1604R|ANK1_ENST00000352337.4_Missense_Mutation_p.G1604R P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1604 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GAGAGTGCCCCCTCCAACTTC 0.582000 45 68 0 0 0.000781405 0 0 CCDC37 348807 broad.mit.edu 37 3 126155162 126155162 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:126155162G>A ENST00000393425.1 + 17 1853 c.1754G>A c.(1753-1755)cGa>cAa p.R585Q CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.R585Q|CCDC37_ENST00000352312.1_Missense_Mutation_p.R584Q Q494V2 CCD37_HUMAN coiled-coil domain containing 37 584 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) TGCCGCTCACGACCCCCAGCC 0.547000 14 18 0 0 0.000308642 0 0 ATG2B 55102 broad.mit.edu 37 14 96797765 96797765 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:96797765A>T ENST00000359933.4 - 11 2571 c.1678T>A c.(1678-1680)Ttt>Att p.F560I NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 560 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAAGACTTAAAATCTTCTGTT 0.378000 19 45 0 0 0.00074312 0 0 CLTCL1 8218 broad.mit.edu 37 22 19197920 19197920 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:19197920G>A ENST00000263200.10 - 20 3237 c.3165C>T c.(3163-3165)atC>atT p.I1055I CLTCL1_ENST00000353891.5_Silent_p.I1055I|CLTCL1_ENST00000427926.1_Silent_p.I1055I NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1055 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CGATGCTCGCGATGTCCAGTG 0.537000 T ? ALCL 31 28 0 0 0.000409698 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62855806 62855806 + Silent SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:62855806G>T ENST00000584306.1 - 11 4988 c.4458C>A c.(4456-4458)ccC>ccA p.P1486P LRRC37A3_ENST00000319651.5_Silent_p.P1486P|LRRC37A3_ENST00000339474.5_Silent_p.P604P|LRRC37A3_ENST00000334962.5_Silent_p.P463P|LRRC37A3_ENST00000400877.3_Silent_p.P524P NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1486 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CATTGTTGTTGGGGATAACGG 0.527000 10 316 0.000673444 0.00423727 0.000673444 1 0 TRPC7 57113 broad.mit.edu 37 5 135602072 135602072 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:135602072G>A ENST00000513104.1 - 5 1463 c.1181C>T c.(1180-1182)tCt>tTt p.S394F TRPC7_ENST00000355180.3_Missense_Mutation_p.S333F|TRPC7_ENST00000426057.2_Missense_Mutation_p.S278F NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 394 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding p.S394Y(2) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GATTGTAAAAGAAACTGCATG 0.408000 13 12 0 0 0.00136819 0 0 GAS7 8522 broad.mit.edu 37 17 9850238 9850238 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:9850238G>A ENST00000396115.1 - 6 718 c.408C>T c.(406-408)acC>acT p.T136T GAS7_ENST00000585266.1_Silent_p.T132T|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.T132T|GAS7_ENST00000542249.1_Silent_p.T141T|GAS7_ENST00000437099.2_Silent_p.T132T|GAS7_ENST00000583882.1_Silent_p.T56T|GAS7_ENST00000580865.1_Silent_p.T56T|GAS7_ENST00000432992.2_Silent_p.T196T|GAS7_ENST00000579158.1_Silent_p.T148T NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 196 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity p.T196T(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 AGCTCCACTCGGTTGGTTTCA 0.582000 T MLL AML* 13 11 0 0 0.000566183 0 0 SNRNP48 154007 broad.mit.edu 37 6 7594068 7594068 + Silent SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:7594068C>A ENST00000342415.5 + 2 317 c.258C>A c.(256-258)acC>acA p.T86T NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 86 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TGGGCTATACCAAAGAAGAAG 0.323000 7 152 0.000157383 0.000993792 0.000157383 1 0 OBSCN 84033 broad.mit.edu 37 1 228504468 228504468 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:228504468G>A ENST00000570156.2 + 62 16289 c.16215G>A c.(16213-16215)caG>caA p.Q5405Q OBSCN_ENST00000284548.11_Silent_p.Q4448Q|OBSCN_ENST00000366707.4_Silent_p.Q2082Q|OBSCN_ENST00000422127.1_Silent_p.Q4448Q|OBSCN_ENST00000366709.4_Silent_p.Q1567Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4448 Ig-like 51. 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) CCGGCGCACAGGCATGCTTCA 0.672000 21 10 0 0 0.00188189 0 0 SLK 9748 broad.mit.edu 37 10 105727572 105727572 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:105727572C>A ENST00000369755.3 + 1 614 c.69C>A c.(67-69)caC>caA p.H23Q SLK_ENST00000335753.4_Missense_Mutation_p.H23Q NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 23 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGTACGAACACGTGAAGAGGG 0.483000 33 39 2.80507e-11 1.79439e-10 0.000409698 1 0 HYDIN 54768 broad.mit.edu 37 16 71015398 71015398 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:71015398C>T ENST00000393567.2 - 29 4556 c.4406G>A c.(4405-4407)aGg>aAg p.R1469K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1469 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) CTGGAAACTCCTTTTAAAGAC 0.478000 49 52 0 0 0.000781405 0 0 HIP1 3092 broad.mit.edu 37 7 75182832 75182832 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:75182832G>A ENST00000336926.6 - 22 2241 c.2215C>T c.(2215-2217)Ctg>Ttg p.L739L HIP1_ENST00000434438.2_Silent_p.L739L NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 739 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TCTTCCTCCAGGGAGGCCAGG 0.527000 T PDGFRB CMML 38 36 0 0 0.00128727 0 0 RGPD4 285190 broad.mit.edu 37 2 108487596 108487596 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:108487596G>A ENST00000408999.3 + 20 3213 c.3136G>A c.(3136-3138)Gaa>Aaa p.E1046K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1046K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1046 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCAAATGCCTGAAAAAGTAGA 0.388000 110 159 0 0 0.000781405 0 0 CBX2 84733 broad.mit.edu 37 17 77758386 77758386 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:77758386C>T ENST00000310942.4 + 5 1248 c.1144C>T c.(1144-1146)Ccg>Tcg p.P382S NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 382 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CAAGGGTGTCCCGGCCACCAA 0.662000 13 43 0 0 0.000422831 0 0 MYO7A 4647 broad.mit.edu 37 11 76892447 76892447 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:76892447C>T ENST00000409709.3 + 23 2988 c.2716C>T c.(2716-2718)Cgt>Tgt p.R906C MYO7A_ENST00000409619.2_Missense_Mutation_p.R895C|MYO7A_ENST00000458637.2_Missense_Mutation_p.R906C|MYO7A_ENST00000409893.1_Missense_Mutation_p.R906C NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 906 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCAGCTGGCTCGTGAGGACGC 0.652000 5 4 0 0 0.000602214 0 0 DNAH3 55567 broad.mit.edu 37 16 21048047 21048047 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:21048047T>C ENST00000261383.3 - 35 5073 c.5074A>G c.(5074-5076)Aaa>Gaa p.K1692E DNAH3_ENST00000415178.1_Missense_Mutation_p.K1692E NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1692 AAA 2 (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) TGGATAATTTTCCCTATAAAC 0.383000 40 60 0 0 0.000680045 0 0 TMEM63C 57156 broad.mit.edu 37 14 77719684 77719684 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:77719684G>A ENST00000298351.4 + 23 2329 c.2185G>A c.(2185-2187)Gag>Aag p.E729K NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 729 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GTTTGACATGGAGCCAAGCAG 0.612000 9 9 0 0 0.00136819 0 0 OR4N2 390429 broad.mit.edu 37 14 20295867 20295867 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20295867C>T ENST00000568211.1 + 1 260 c.260C>T c.(259-261)tCt>tTt p.S87F OR4N2_ENST00000315947.1_Missense_Mutation_p.S87F Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTTCCTCTCTGCGAAGAAG 0.522000 32 107 0 0 0.00058488 0 0 APBB2 323 broad.mit.edu 37 4 40832494 40832494 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:40832494C>T ENST00000295974.8 - 13 2256 c.1627G>A c.(1627-1629)Gag>Aag p.E543K APBB2_ENST00000502841.1_5'UTR|APBB2_ENST00000508593.1_Missense_Mutation_p.E544K|APBB2_ENST00000506352.1_Missense_Mutation_p.E522K|APBB2_ENST00000543538.1_5'UTR|APBB2_ENST00000513140.1_Missense_Mutation_p.E522K|APBB2_ENST00000504305.1_5'UTR NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 543 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 GAGCAGATCTCGTGGAGACTT 0.468000 18 21 0 0 0.000375601 0 0 PACS1 55690 broad.mit.edu 37 11 66010697 66010697 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:66010697C>T ENST00000320580.4 + 24 2871 c.2838C>T c.(2836-2838)ccC>ccT p.P946P PACS1_ENST00000529757.1_Silent_p.P482P|PACS1_ENST00000524815.1_Silent_p.P74P NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 946 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CCCAGTGGCCCACCCATGTCA 0.607000 5 9 0 0 0.000602214 0 0 NOMO1 23420 broad.mit.edu 37 16 14970280 14970280 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:14970280C>T ENST00000287667.7 + 21 2592 c.2421C>T c.(2419-2421)atC>atT p.I807I NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 807 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 AAGGCCAGATCCACCCCGAGT 0.507000 29 66 0 0 0.00058488 0 0 XRCC5 7520 broad.mit.edu 37 2 217001835 217001835 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:217001835C>T ENST00000392133.3 + 13 1599 c.1138C>T c.(1138-1140)Ctg>Ttg p.L380L XRCC5_ENST00000392132.2_Silent_p.L380L|XRCC5_ENST00000471649.1_3'UTR P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 380 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) ACTTTCCTCCCTGATTCATGC 0.408000 Non-homologous end-joining 29 57 0 0 0.00178596 0 0 POLR3A 11128 broad.mit.edu 37 10 79739921 79739921 + Silent SNP G G A rs112788477 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:79739921G>A ENST00000372371.3 - 30 4139 c.4002C>T c.(4000-4002)ttC>ttT p.F1334F NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1334 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCTTCTGCCCGAAGTAGGCAG 0.493000 29 42 0 0 0.00058488 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306583 205306583 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:205306583C>T ENST00000367156.3 - 9 1813 c.997G>A c.(997-999)Ggt>Agt p.G333S KLHDC8A_ENST00000539253.1_Missense_Mutation_p.G333S|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.G199S|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.G220S|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.G333S NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 333 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) TGGTTGACACCTCCCACGGCG 0.592000 45 107 0 0 0.000589545 0 0 SLC25A18 83733 broad.mit.edu 37 22 18064158 18064158 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:18064158G>A ENST00000327451.5 + 5 716 c.178G>A c.(178-180)Ggc>Agc p.G60S AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.G60S NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 60 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) TCGGGCGGAGGGCTTCTTCGG 0.632000 23 50 0 0 0.000375601 0 0 HEXA 3073 broad.mit.edu 37 15 72668076 72668076 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:72668076G>A ENST00000268097.5 - 1 741 c.238C>T c.(238-240)Cgt>Tgt p.R80C HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567159.1_Missense_Mutation_p.R80C|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000457859.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.R80C NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 80 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 AGGTAAGGACGGGGCCAAGAC 0.657000 58 68 0 0 0.000781405 0 0 ZNF876P 642280 broad.mit.edu 37 4 248262 248262 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:248262C>T ENST00000356347.3 + 0 1086 NR_027481.1 GGTCCTCACACCTTACTGAAC 0.368000 7 8 0 0 8.12818e-05 0 0 ACADL 33 broad.mit.edu 37 2 211069406 211069406 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:211069406C>T ENST00000233710.3 - 7 996 c.768_splice c.e7-1 p.D257_splice AC006994.2_ENST00000412065.1_RNA NM_001608.3 NP_001599.1 P28330 ACADL_HUMAN acyl-CoA dehydrogenase, long chain 257 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) TCTGCGGTATCCTAAGAGACC 0.343000 12 11 0 0 0.00136819 0 0 CEP350 9857 broad.mit.edu 37 1 180003091 180003091 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:180003091T>G ENST00000367607.3 + 16 4238 c.3820T>G c.(3820-3822)Tct>Gct p.S1274A NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1274 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TGCAGGAACTTCTTCAGAAAG 0.448000 31 97 0 0 0.00178596 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737457 62737457 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:62737457C>T ENST00000369768.1 - 1 1067 c.728G>A c.(727-729)cGg>cAg p.R243Q NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 243 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) AGAGCGGAGCCGCACGGCCCG 0.667000 5 13 0 0 0.000602214 0 0 POLE2 5427 broad.mit.edu 37 14 50131859 50131859 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:50131859G>A ENST00000539565.2 - 7 739 c.521C>T c.(520-522)cCt>cTt p.P174L POLE2_ENST00000554396.1_Missense_Mutation_p.P200L|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.P200L NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 200 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) TGTTCCAGTAGGATCTTCCAG 0.284000 15 22 0 0 0.00121646 0 0 CATSPER2 117155 broad.mit.edu 37 15 43924973 43924973 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:43924973G>A ENST00000396879.1 - 12 1444 c.1332C>T c.(1330-1332)gtC>gtT p.V444V CATSPER2_ENST00000321596.5_Silent_p.V446V|CATSPER2_ENST00000354127.4_Silent_p.V444V|CATSPER2_ENST00000381761.1_Silent_p.V450V|CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 446 Ser-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) atgtggaggagacacaggagg 0.378000 41 61 0 0 0.00111076 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112035 64112035 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64112035G>A ENST00000356786.5 + 14 2066 c.2022G>A c.(2020-2022)acG>acA p.T674T CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 674 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACCTGGCCACGGGACAAGCAG 0.642000 12 5 0 0 0.00136819 0 0 TTC3 7267 broad.mit.edu 37 21 38511016 38511016 + Splice_Site SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:38511016T>C ENST00000399017.2 + 19 4406 c.e19+2 TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CAGCCTGAGGTAAGATTTGTA 0.333000 27 39 0 0 0.000878237 0 0 SPP2 6694 broad.mit.edu 37 2 234969029 234969029 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:234969029G>A ENST00000168148.3 + 4 438 c.350G>A c.(349-351)aGa>aAa p.R117K SPP2_ENST00000373368.1_Missense_Mutation_p.R117K NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 117 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GCTGTTTGCAGAAGCACCGTG 0.512000 25 30 0 0 0.000720815 0 0 PDE1A 5136 broad.mit.edu 37 2 183104895 183104895 + Missense_Mutation SNP C C T rs145482728 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:183104895C>T ENST00000435564.1 - 3 540 c.340G>A c.(340-342)Gaa>Aaa p.E114K PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000358139.2_Missense_Mutation_p.E114K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E10K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E80K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E114K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E98K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E98K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E114K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E114K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 114 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.E114K(1) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTTGGTTTTTCCTCAGGTTTC 0.418000 45 57 0 0 0.000781405 0 0 FADS2 9415 broad.mit.edu 37 11 61631251 61631251 + Nonsense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:61631251G>T ENST00000278840.4 + 10 1780 c.1150G>T c.(1150-1152)Gag>Tag p.E384* FADS2_ENST00000521849.1_Nonsense_Mutation_p.E384*|FADS2_ENST00000522056.1_Nonsense_Mutation_p.E353*|FADS2_ENST00000257261.6_Nonsense_Mutation_p.E362* NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 384 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CTTCCAGATTGAGCACCAGTG 0.622000 13 15 1.52009e-12 9.74517e-12 0.000308642 1 0 BRCA2 675 broad.mit.edu 37 13 32903615 32903615 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:32903615C>T ENST00000544455.1 + 8 894 c.667C>T c.(667-669)Cat>Tat p.H223Y BRCA2_ENST00000380152.3_Missense_Mutation_p.H223Y NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 223 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TGTATTTCCTCATGATACTAC 0.259000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 21 17 0 0 0.00188189 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993243 140993243 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:140993243C>T ENST00000285879.4 + 4 339 c.53C>T c.(52-54)tCc>tTc p.S18F MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 18 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCAGAGTTCCTCTGAGAGT 0.547000 HNSCC(15;0.026) 31 4 0 0 0.00058488 0 0 NETO1 81832 broad.mit.edu 37 18 70451049 70451049 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:70451049C>T ENST00000327305.6 - 7 1389 c.732G>A c.(730-732)gaG>gaA p.E244E NETO1_ENST00000583169.1_Silent_p.E244E|NETO1_ENST00000299430.2_Silent_p.E243E NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 244 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CTTTCAAATCCTCCACGGAAC 0.448000 39 31 0 0 0.00148497 0 0 CCDC68 80323 broad.mit.edu 37 18 52608269 52608269 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:52608269C>T ENST00000591504.1 - 4 437 c.163G>A c.(163-165)Gaa>Aaa p.E55K CCDC68_ENST00000337363.4_Missense_Mutation_p.E55K|CCDC68_ENST00000432185.1_Missense_Mutation_p.E55K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 55 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TGTCTTATTTCATCTTTAAAC 0.323000 14 29 0 0 0.000219431 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334373 37334373 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:37334373C>T ENST00000262825.5 + 14 2758 c.2541C>T c.(2539-2541)tcC>tcT p.S847S CSF2RB_ENST00000403662.3_Silent_p.S841S|CSF2RB_ENST00000406230.1_Silent_p.S847S|CSF2RB_ENST00000536485.1_Silent_p.S788S NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 841 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AACCTTCTTCCCCGGGACCCG 0.632000 64 78 0 0 0.000781405 0 0 OSCAR 126014 broad.mit.edu 37 19 54600243 54600243 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54600243G>A ENST00000391760.1 - 3 154 c.106C>T c.(106-108)Cca>Tca p.P36S OSCAR_ENST00000391761.1_Silent_p.A82A|OSCAR_ENST00000356532.3_Silent_p.A97A|OSCAR_ENST00000358375.4_Silent_p.A93A|OSCAR_ENST00000359649.4_Silent_p.A97A|OSCAR_ENST00000284648.6_Silent_p.A93A|OSCAR_ENST00000351806.4_Silent_p.A82A Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 0 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) TTCCCCCTTGGGCTGGAGTCA 0.602000 17 17 0 0 0.00074312 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20858948 20858948 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:20858948G>A ENST00000381552.1 + 4 705 c.337G>A c.(337-339)Gga>Aga p.G113R SLCO1C1_ENST00000545102.1_5'UTR|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.G113R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G113R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G113R Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 113 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity 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) AAAAATAATTGGAGCAGGGTG 0.383000 123 28 0 0 0.000781405 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99117481 99117481 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:99117481C>T ENST00000394170.2 + 4 836 c.585C>T c.(583-585)ccC>ccT p.P195P ZKSCAN5_ENST00000451158.1_Silent_p.P195P|ZKSCAN5_ENST00000326775.5_Silent_p.P195P NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 195 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CTTCCCTTCCCCTGAAGGACA 0.532000 38 55 0 0 0.000781405 0 0 CYP27C1 339761 broad.mit.edu 37 2 127950676 127950676 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:127950676C>T ENST00000335247.7 - 7 1126 c.996G>A c.(994-996)gtG>gtA p.V332V CYP27C1_ENST00000409327.1_Silent_p.V332V NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 332 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) CTACCTGGATCACGACGAGGT 0.512000 17 19 0 0 0.000958276 0 0 ATP1A2 477 broad.mit.edu 37 1 160105253 160105253 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:160105253G>A ENST00000361216.3 + 16 2234 c.2145G>A c.(2143-2145)ggG>ggA p.G715G ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.G715G NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 715 G -> R (in FHM2; de novo mutation in a sporadic case). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGGGTGACGGGGTGAACGACT 0.602000 40 32 0 0 0.000589545 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551666 1551666 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:1551666C>T ENST00000381605.4 - 4 933 c.869G>A c.(868-870)gGa>gAa p.G290E SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 290 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGACACATTTCCATTCTCCAA 0.552000 14 30 0 0 0.000219431 0 0 FAM24A 118670 broad.mit.edu 37 10 124672372 124672372 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:124672372G>A ENST00000368894.1 + 3 341 c.220G>A c.(220-222)Gag>Aag p.E74K NM_001029888.1 NP_001025059.1 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 74 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CACCACCATGGAGTCTTGTCC 0.512000 31 33 0 0 0.000409698 0 0 LPGAT1 9926 broad.mit.edu 37 1 211952371 211952371 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:211952371C>T ENST00000366997.4 - 6 969 c.743G>A c.(742-744)gGc>gAc p.G248D LPGAT1_ENST00000366996.1_Missense_Mutation_p.G248D NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 248 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) CCACTGGAGGCCTTTTGATTT 0.343000 51 176 0 0 0.000781405 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644851 20644851 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:20644851C>T ENST00000428453.1 - 0 3096 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ATGTCCCTCGCCCTTTCGGTC 0.458000 18 69 0 0 0.000375601 0 0 AHR 196 broad.mit.edu 37 7 17382555 17382555 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:17382555G>A ENST00000242057.4 + 11 3057 c.2414G>A c.(2413-2415)gGa>gAa p.G805E NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 805 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTTCAGAATGGAGTTTTAAAT 0.328000 21 40 0 0 0.00188189 0 0 EMC1 23065 broad.mit.edu 37 1 19567578 19567578 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:19567578C>T ENST00000477853.1 - 6 610 c.568G>A c.(568-570)Gga>Aga p.G190R EMC1_ENST00000375208.3_Missense_Mutation_p.G168R|EMC1_ENST00000375199.3_Missense_Mutation_p.G190R NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 GGAACAACTCCGAGGGCCCAC 0.507000 OREG0013169 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 58 0 0 0.00058488 0 0 OR10J3 441911 broad.mit.edu 37 1 159284246 159284246 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:159284246G>A ENST00000332217.5 - 1 203 c.204C>T c.(202-204)tcC>tcT p.S68S NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TCTCAGAGATGGATAGCATGC 0.498000 16 64 0 0 0.000566183 0 0 CFH 3075 broad.mit.edu 37 1 196694307 196694307 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:196694307G>A ENST00000367429.4 + 12 1993 c.1753G>A c.(1753-1755)Gac>Aac p.D585N NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 585 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TCGCAAGAAAGACCAGTATAA 0.353000 13 4 0 0 0.00136819 0 0 FTSJ1 24140 broad.mit.edu 37 X 48341135 48341135 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:48341135C>T ENST00000019019.2 + 12 1333 c.904C>T c.(904-906)Ccc>Tcc p.P302S FTSJ1_ENST00000456787.1_Missense_Mutation_p.P302S|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.P167S|FTSJ1_ENST00000348411.2_Missense_Mutation_p.P304S NM_177439.1 NP_803188.1 Q9UET6 RRMJ1_HUMAN FtsJ RNA methyltransferase homolog 1 (E. coli) 304 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding breast(1)|central_nervous_system(1)|lung(4)|skin(1) 7 GGACACGTTTCCCCAGCCCCT 0.642000 5 2 0 0 8.12818e-05 0 0 SHISA3 152573 broad.mit.edu 37 4 42403133 42403133 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:42403133G>A ENST00000319234.4 + 2 600 c.382G>A c.(382-384)Gag>Aag p.E128K NM_001080505.1 NP_001073974.1 A0PJX4 SHSA3_HUMAN shisa family member 3 128 multicellular organismal development endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 12 GAGACCCAAGGAGCCCTCGCA 0.572000 72 102 0 0 0.000781405 0 0 FANCM 57697 broad.mit.edu 37 14 45605493 45605493 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:45605493A>G ENST00000267430.5 + 1 344 c.259A>G c.(259-261)Acc>Gcc p.T87A FANCM_ENST00000556036.1_Missense_Mutation_p.T87A|FANCM_ENST00000542564.2_Missense_Mutation_p.T87A NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 87 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GATTTACCCTACCAATTGCCC 0.577000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 44 0 0 0.00185496 0 0 SSPO 23145 broad.mit.edu 37 7 149477424 149477424 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:149477424G>A ENST00000378016.2 + 0 1495 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTCCTGCAGGGAAGAGTGTGT 0.677000 4 5 0 0 0.00024832 0 0 DNAH7 56171 broad.mit.edu 37 2 196771428 196771428 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:196771428C>T ENST00000312428.6 - 27 4390 c.4290G>A c.(4288-4290)atG>atA p.M1430I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1430 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCCAGGGTTCATTGTTATAA 0.368000 16 23 0 0 0.00074312 0 0 QSOX1 5768 broad.mit.edu 37 1 180165989 180165989 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:180165989G>A ENST00000367602.3 + 12 2135 c.2061G>A c.(2059-2061)gaG>gaA p.E687E QSOX1_ENST00000367600.5_Intron O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 687 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCCAGCTGGAGGCCCGAGCTG 0.667000 57 32 0 0 0.000781405 0 0 CCNF 899 broad.mit.edu 37 16 2493718 2493718 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:2493718C>T ENST00000397066.4 + 9 934 c.846C>T c.(844-846)atC>atT p.I282I NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 282 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding p.I282M(1) breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) CCAGTGAGATCGTCTGCCAGC 0.502000 42 63 0 0 0.000680045 0 0 GRM8 2918 broad.mit.edu 37 7 126173552 126173552 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:126173552C>T ENST00000339582.2 - 9 2692 c.1884G>A c.(1882-1884)ggG>ggA p.G628G GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.G628G|GRM8_ENST00000444921.2_Silent_p.G628G O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 628 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGAGAAAAATCCCCGTTAGGA 0.463000 HNSCC(24;0.065) 12 22 0 0 0.00136819 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111600674 111600674 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:111600674C>T ENST00000261486.5 - 6 749 c.473G>A c.(472-474)gGa>gAa p.G158E NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 158 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGATACATATCCTGCAGTATG 0.333000 50 85 0 0 0.000781405 0 0 GRM4 2914 broad.mit.edu 37 6 34003584 34003584 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:34003584G>A ENST00000374181.3 - 8 2472 c.2303C>T c.(2302-2304)aCc>aTc p.T768I GRM4_ENST00000538487.1_Missense_Mutation_p.T768I|GRM4_ENST00000545715.1_Missense_Mutation_p.T460I|GRM4_ENST00000535756.1_Missense_Mutation_p.T635I|GRM4_ENST00000455714.2_Missense_Mutation_p.T628I|GRM4_ENST00000374177.3_Missense_Mutation_p.T652I|GRM4_ENST00000544773.1_Missense_Mutation_p.T599I NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 768 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGCATACACGGTGCACGTGAC 0.602000 12 29 0 0 0.00136819 0 0 PRR23A 729627 broad.mit.edu 37 3 138724486 138724486 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:138724486C>T ENST00000383163.2 - 1 624 c.625G>A c.(625-627)Gga>Aga p.G209R NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 209 Pro-rich. endometrium(3)|kidney(1)|lung(7) 11 GGAGAGTGTCCCTCTGAACTG 0.652000 5 4 0 0 0.000602214 0 0 DNAH1 25981 broad.mit.edu 37 3 52433001 52433001 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52433001G>A ENST00000420323.2 + 76 12486 c.12225G>A c.(12223-12225)tgG>tgA p.W4075* NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4140 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGAGCTCTGGAGTGCCAAGG 0.567000 29 29 0 0 0.000878237 0 0 SYT3 84258 broad.mit.edu 37 19 51133319 51133319 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:51133319C>T ENST00000338916.4 - 3 1417 c.784G>A c.(784-786)Gaa>Aaa p.E262K SYT3_ENST00000593901.1_Missense_Mutation_p.E262K|SYT3_ENST00000600079.1_Missense_Mutation_p.E262K|SYT3_ENST00000544769.1_Missense_Mutation_p.E262K NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 262 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TTGGCTTTTTCCTCGCCTCCA 0.682000 28 37 0 0 0.001512 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904478 74904478 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:74904478C>T ENST00000289575.5 + 9 1686 c.1291C>T c.(1291-1293)Ctg>Ttg p.L431L SLCO2B1_ENST00000454962.2_Silent_p.L204L|SLCO2B1_ENST00000428359.2_Silent_p.L409L|SLCO2B1_ENST00000341411.4_Silent_p.L204L|SLCO2B1_ENST00000525650.1_Silent_p.L287L|SLCO2B1_ENST00000532236.1_Silent_p.L315L|SLCO2B1_ENST00000531756.1_Silent_p.L176L NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 431 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GGGTGGCGTCCTGGTCAAGCG 0.632000 21 25 0 0 0.000295444 0 0 PSG4 5672 broad.mit.edu 37 19 43698546 43698546 + Missense_Mutation SNP G G A rs138668740 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43698546G>A ENST00000405312.3 - 5 1426 c.1189C>T c.(1189-1191)Cgt>Tgt p.R397C PSG4_ENST00000433626.2_Missense_Mutation_p.R304C|PSG4_ENST00000244295.9_Missense_Mutation_p.R304C NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 397 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GCTGAGTTACGAACAGAGCAA 0.448000 81 85 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9072091 9072091 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9072091G>A ENST00000397910.4 - 3 15558 c.15355C>T c.(15355-15357)Cct>Tct p.P5119S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5121 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 TTTATAGAAGGAAAAATTTCC 0.453000 28 25 0 0 0.00106085 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424004 47424004 + Missense_Mutation SNP A A C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:47424004A>C ENST00000404338.3 + 1 2072 c.2072A>C c.(2071-2073)aAt>aCt p.N691T NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 691 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CGGCGGGATAATCATTTAGTC 0.453000 7 12 0 0 8.12818e-05 0 0 MAP3K19 80122 broad.mit.edu 37 2 135781086 135781086 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:135781086C>T ENST00000392915.1 - 1 133 c.14G>A c.(13-15)tGg>tAg p.W5* MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR mitogen-activated protein kinase kinase kinase 19 TTGAAAGTTCCAATGTGCTcc 0.443000 13 32 0 0 0.000219431 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179303026 179303026 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:179303026G>A ENST00000356834.3 - 11 1831 c.1794C>T c.(1792-1794)atC>atT p.I598I TBC1D9B_ENST00000355235.3_Silent_p.I598I NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 598 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGAGGTCACGATGTTCATTG 0.632000 5 12 0 0 0.000602214 0 0 OR2L2 26246 broad.mit.edu 37 1 248201816 248201816 + Missense_Mutation SNP G G A rs142994715 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248201816G>A ENST00000366479.2 + 1 343 c.247G>A c.(247-249)Gat>Aat p.D83N OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D83N(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GAtggtttatgattttctgta 0.418000 127 74 0 0 0.000781405 0 0 HDLBP 3069 broad.mit.edu 37 2 242206277 242206277 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:242206277G>A ENST00000391975.1 - 3 235 c.8C>T c.(7-9)tCc>tTc p.S3F HDLBP_ENST00000427183.2_Missense_Mutation_p.S39F|HDLBP_ENST00000310931.4_Missense_Mutation_p.S3F|HDLBP_ENST00000391976.2_Missense_Mutation_p.S3F NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 3 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AACTGCAACGGAACTCATGGT 0.433000 56 97 0 0 0.000781405 0 0 OR2A25 392138 broad.mit.edu 37 7 143771381 143771381 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143771381G>A ENST00000408898.2 + 1 107 c.69G>A c.(67-69)caG>caA p.Q23Q NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 23 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) CAAGGATTCAGATGCTCCTCT 0.517000 22 42 0 0 0.00188189 0 0 MYH6 4624 broad.mit.edu 37 14 23862632 23862632 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:23862632G>A ENST00000405093.3 - 23 3094 c.3024C>T c.(3022-3024)gcC>gcT p.A1008A MYH6_ENST00000356287.3_Silent_p.A1008A NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1008 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTCATCCAGGGCCTGCTGAT 0.517000 66 82 0 0 0.000781405 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791406 50791406 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:50791406C>T ENST00000263046.4 + 3 561 c.395C>T c.(394-396)cCc>cTc p.P132L TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P123L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 123 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TCTCTCCTGCCCCAGCCTCGG 0.697000 4 13 0 0 0.00024832 0 0 SAFB2 9667 broad.mit.edu 37 19 5591793 5591793 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:5591793G>A ENST00000252542.4 - 17 2624 c.2360C>T c.(2359-2361)tCg>tTg p.S787L NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 787 Arg-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CATTGGCCTCGAACCCTCCCG 0.567000 7 10 0 0 0.000157383 0 0 SYTL1 84958 broad.mit.edu 37 1 27679915 27679915 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:27679915C>T ENST00000543823.1 + 13 1947 c.1485C>T c.(1483-1485)tcC>tcT p.S495S SYTL1_ENST00000318074.5_Silent_p.S483S|SYTL1_ENST00000490170.1_3'UTR Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 495 C2 2. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCGAGCTCTCCCTCTGGGACC 0.662000 15 16 0 0 0.00121646 0 0 P4HA1 5033 broad.mit.edu 37 10 74833576 74833576 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:74833576G>A ENST00000412021.2 - 4 419 c.86C>T c.(85-87)aCt>aTt p.T29I P4HA1_ENST00000440381.1_Missense_Mutation_p.T29I|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000394890.2_Missense_Mutation_p.T29I|P4HA1_ENST00000307116.2_Missense_Mutation_p.T29I|P4HA1_ENST00000373008.2_Missense_Mutation_p.T29I|P4HA1_ENST00000263556.3_Missense_Mutation_p.T29I NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 29 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GATCAAATCAGTCATCTGACC 0.333000 31 37 0 0 0.00178596 0 0 GBP4 115361 broad.mit.edu 37 1 89655736 89655736 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:89655736G>A ENST00000355754.6 - 7 1279 c.1182C>T c.(1180-1182)ttC>ttT p.F394F NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 394 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GCTTCTTCTGGAATTCATGGT 0.478000 18 33 0 0 0.000295444 0 0 NLRC5 84166 broad.mit.edu 37 16 57075940 57075940 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57075940C>T ENST00000436936.1 + 19 3301 c.3076C>T c.(3076-3078)Cag>Tag p.Q1026* NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1026*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1026*|NLRC5_ENST00000262510.6_Nonsense_Mutation_p.Q1026* Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1026 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CCGGCTGGCTCAGCTGCTCCC 0.637000 15 31 0 0 0.00152264 0 0 MYO5C 55930 broad.mit.edu 37 15 52529717 52529717 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:52529717C>T ENST00000261839.7 - 22 2991 c.2830G>A c.(2830-2832)Gag>Aag p.E944K MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 944 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CCCTTCTCCTCGTAATTTCGC 0.522000 134 217 0 0 0.000781405 0 0 CUBN 8029 broad.mit.edu 37 10 16982135 16982135 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:16982135G>A ENST00000377833.4 - 37 5509 c.5444C>T c.(5443-5445)tCc>tTc p.S1815F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1815 CUB 12. 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) GAGAGGGAAGGAGTTTCCACA 0.502000 53 80 0 0 0.000781405 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808644 18808644 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:18808644C>T ENST00000400664.1 + 1 1221 c.1169C>T c.(1168-1170)cCa>cTa p.P390L NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 390 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCACCCTGCCCAGACCCGGGC 0.667000 17 21 0 0 0.000958276 0 0 EPHA10 284656 broad.mit.edu 37 1 38187411 38187411 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:38187411G>A ENST00000373048.4 - 11 2066 c.2067C>T c.(2065-2067)ctC>ctT p.L689L EPHA10_ENST00000427468.2_Silent_p.L689L|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.L184L NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 689 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAGGAAGCCGAGCCTCTGTG 0.662000 9 18 0 0 0.000673444 0 0 PNKP 11284 broad.mit.edu 37 19 50368642 50368642 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:50368642C>T ENST00000322344.3 - 4 349 c.240G>A c.(238-240)aaG>aaA p.K80K PNKP_ENST00000596014.1_Silent_p.K80K|PNKP_ENST00000600573.1_Silent_p.K80K|PNKP_ENST00000600910.1_Silent_p.K80K NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 80 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CCAACCCCGGCTTCAACTCCT 0.627000 Other BER factors 7 7 0 0 8.12818e-05 0 0 SSH3 54961 broad.mit.edu 37 11 67075030 67075030 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:67075030C>T ENST00000308127.4 + 7 791 c.613C>T c.(613-615)Cag>Tag p.Q205* SSH3_ENST00000376757.5_Nonsense_Mutation_p.Q205*|SSH3_ENST00000308298.7_Nonsense_Mutation_p.Q205*|SSH3_ENST00000532181.1_Intron NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 205 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCCACACTCCAGGTATTGCA 0.632000 15 25 0 0 0.000566183 0 0 EFR3A 23167 broad.mit.edu 37 8 133014007 133014007 + Splice_Site SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:133014007T>C ENST00000254624.5 + 20 2384 c.2157_splice c.e20-1 p.V720_splice EFR3A_ENST00000334503.4_Splice_Site_p.V720_splice|EFR3A_ENST00000521940.1_3'UTR|EFR3A_ENST00000519656.1_Splice_Site_p.V684_splice NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 720 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTTCTCTAGGTTAGTAACACT 0.303000 32 52 0 0 0.00058488 0 0 GRM6 2916 broad.mit.edu 37 5 178408731 178408731 + Missense_Mutation SNP C C T rs145110689 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:178408731C>T ENST00000231188.5 - 10 2739 c.2561G>A c.(2560-2562)cGa>cAa p.R854Q GRM6_ENST00000517717.1_Missense_Mutation_p.R854Q|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 854 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) GCTCCGCTTTCGCTTCTGCAC 0.612000 28 56 0 0 0.00127121 0 0 AOAH 313 broad.mit.edu 37 7 36552758 36552758 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:36552758C>T ENST00000431169.1 - 22 2247 c.1947G>A c.(1945-1947)aaG>aaA p.K649K AOAH_ENST00000258749.5_3'UTR|AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000538464.1_3'UTR NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 0 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AAGAAGAGTCCTTTGGGCCTG 0.542000 10 19 0 0 0.000442599 0 0 KRT9 3857 broad.mit.edu 37 17 39724455 39724455 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39724455G>A ENST00000246662.4 - 6 1418 c.1353C>T c.(1351-1353)atC>atT p.I451I KRT9_ENST00000588431.1_Silent_p.I218I NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 451 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GGTAGGTCTCGATTTCCTTCT 0.552000 21 39 0 0 0.00047179 0 0 ZNF627 199692 broad.mit.edu 37 19 11728123 11728123 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:11728123C>T ENST00000361113.5 + 4 1013 c.805C>T c.(805-807)Cat>Tat p.H269Y ZNF627_ENST00000588174.1_3'UTR NM_145295.3 NP_660338.1 Q7L945 ZN627_HUMAN zinc finger protein 627 269 H -> R (in Ref. 2; AAH98416). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 CATTCGAATCCATGAACGAAC 0.448000 7 15 0 0 8.12818e-05 0 0 TMEM156 80008 broad.mit.edu 37 4 39000388 39000388 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:39000388G>A ENST00000381938.3 - 2 337 c.230C>T c.(229-231)cCc>cTc p.P77L TMEM156_ENST00000372489.2_5'UTR NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 77 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 AAAATTGGAGGGATTTAGAAA 0.368000 6 15 0 0 8.12818e-05 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813976 106813976 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:106813976A>G ENST00000407775.2 + 8 1916 c.1666A>G c.(1666-1668)Aca>Gca p.T556A RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T287A|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T424A|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T424A|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 556 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GTGTAACATAACATTCAATAA 0.473000 18 27 0 0 0.00074312 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43802138 43802138 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:43802138G>A ENST00000398397.3 - 9 1188 c.988C>T c.(988-990)Cct>Tct p.P330S TMPRSS3_ENST00000433957.2_Intron|TMPRSS3_ENST00000398405.1_Intron|TMPRSS3_ENST00000474596.1_Intron|TMPRSS3_ENST00000291532.3_Intron|TMPRSS3_ENST00000380399.1_Intron NM_032405.1 NP_115781.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 0 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 tgaaacaaaggaagagctGCA 0.443000 32 32 0 0 0.000339439 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113656944 113656944 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:113656944G>A ENST00000358160.4 + 15 2137 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E344K|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E382K|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.E278K NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 549 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 AAAGAAAAAGGAAATGGAAAA 0.289000 14 17 0 0 0.000958276 0 0 CDC25A 993 broad.mit.edu 37 3 48205896 48205896 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:48205896A>G ENST00000302506.3 - 13 1631 c.1223T>C c.(1222-1224)gTt>gCt p.V408A CDC25A_ENST00000351231.3_Missense_Mutation_p.V368A|CDC25A_ENST00000459900.1_5'UTR NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 408 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GAAGTCTTCAACCTCTTCTTC 0.458000 14 22 0 0 0.000219431 0 0 GLCCI1 113263 broad.mit.edu 37 7 8095132 8095132 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:8095132C>T ENST00000223145.5 + 4 1323 c.766C>T c.(766-768)Cgc>Tgc p.R256C GLCCI1_ENST00000474269.1_3'UTR NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 256 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GGAGAAAGATCGCCAGTCACC 0.423000 22 35 0 0 0.000375601 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74715179 74715179 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:74715179C>T ENST00000370895.1 + 5 524 c.489C>T c.(487-489)taC>taT p.Y163Y TNNI3K_ENST00000370891.2_Silent_p.Y163Y|FPGT-TNNI3K_ENST00000370899.3_Silent_p.Y163Y|FPGT-TNNI3K_ENST00000557284.1_Silent_p.Y163Y|TNNI3K_ENST00000326637.3_Silent_p.Y62Y Q59H18 TNI3K_HUMAN 62 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ATTTAAATTACCGCACTGAAA 0.328000 23 39 0 0 0.000878237 0 0 ZNF486 90649 broad.mit.edu 37 19 20296886 20296886 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:20296886C>T ENST00000335117.8 + 3 305 c.248C>T c.(247-249)cCc>cTc p.P83L CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.P83L NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 83 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 ATTGCCAAACCCCCAGGTAGG 0.428000 19 30 0 0 0.00188189 0 0 DPYS 1807 broad.mit.edu 37 8 105456623 105456623 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:105456623C>T ENST00000351513.2 - 4 778 c.646G>A c.(646-648)Ggc>Agc p.G216S NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 216 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.G216C(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCTCGTGGCCCTCAGGGCCT 0.527000 21 22 0 0 0.00047179 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907728 12907728 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12907728C>T ENST00000317869.6 - 2 640 c.415G>A c.(415-417)Gct>Act p.A139T NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 GGCACTACAGCCAGAGCAATG 0.498000 39 55 0 0 0.000953801 0 0 COL4A1 1282 broad.mit.edu 37 13 110822958 110822958 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:110822958G>A ENST00000375820.4 - 42 3799 c.3678C>T c.(3676-3678)tcC>tcT p.S1226S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1226 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CATGGCCTGGGGATCCCGGTA 0.672000 8 16 0 0 0.000442599 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125367393 125367393 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:125367393C>T ENST00000431078.1 + 12 2133 c.1769C>T c.(1768-1770)tCc>tTc p.S590F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 590 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TACGAGCAATCCTGCGAGGTG 0.507000 21 21 0 0 0.00047179 0 0 SF3B1 23451 broad.mit.edu 37 2 198265465 198265465 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:198265465A>G ENST00000335508.5 - 18 2783 c.2692T>C c.(2692-2694)Tat>Cat p.Y898H NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 898 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGGAAAGCATAAAGAATACCA 0.323000 Mis myelodysplastic syndrome 15 49 0 0 0.000422831 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558485 129558485 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:129558485C>T ENST00000422113.2 - 9 3561 c.3235G>A c.(3235-3237)Gat>Aat p.D1079N TMEM132D_ENST00000389441.4_Missense_Mutation_p.D617N NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1079 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGGTCCAGATCCTGGCAGACC 0.507000 94 14 0 0 0.000781405 0 0 FRMPD2 143162 broad.mit.edu 37 10 49386156 49386156 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:49386156G>A ENST00000374201.3 - 22 3131 c.2829C>T c.(2827-2829)atC>atT p.I943I FRMPD2_ENST00000305531.3_Silent_p.I918I|FRMPD2_ENST00000407470.4_Silent_p.I911I|FRMPD2_ENST00000463706.1_5'UTR NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 943 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CACCAGCACTGATTTCTGGAG 0.408000 14 23 0 0 0.000295444 0 0 COL4A5 1287 broad.mit.edu 37 X 107849982 107849982 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:107849982G>A ENST00000328300.6 + 29 2499 c.2255G>A c.(2254-2256)gGa>gAa p.G752E COL4A5_ENST00000361603.2_Missense_Mutation_p.G752E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 752 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGTGAACCAGGATTTGCATTA 0.478000 Alport syndrome with Diffuse Leiomyomatosis 46 7 0 0 0.000781405 0 0 CEP350 9857 broad.mit.edu 37 1 180003092 180003092 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:180003092C>T ENST00000367607.3 + 16 4239 c.3821C>T c.(3820-3822)tCt>tTt p.S1274F NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1274 Ser-rich. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GCAGGAACTTCTTCAGAAAGA 0.453000 30 94 0 0 0.00178596 0 0 TAF1C 9013 broad.mit.edu 37 16 84215594 84215594 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:84215594G>A ENST00000567759.1 - 8 974 c.792C>T c.(790-792)ctC>ctT p.L264L TAF1C_ENST00000541676.1_Silent_p.L197L|TAF1C_ENST00000566732.1_Silent_p.L264L|TAF1C_ENST00000341690.6_Silent_p.L197L|TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000378541.4_Silent_p.L264L NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 264 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 CAGGTCCCTGGAGCTGGATGC 0.557000 35 13 0 0 0.00170553 0 0 USF1 7391 broad.mit.edu 37 1 161010635 161010635 + Silent SNP C C G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:161010635C>G ENST00000368021.3 - 8 792 c.588G>C c.(586-588)cgG>cgC p.R196R USF1_ENST00000435396.1_Silent_p.R137R|USF1_ENST00000368019.1_Silent_p.R168R|USF1_ENST00000368020.1_Silent_p.R196R NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 196 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GTTTCTCATCCCGAGTCGTCC 0.502000 32 91 0 0 0.00111076 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039448 55039448 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:55039448G>A ENST00000370862.3 + 1 399 c.63G>A c.(61-63)ctG>ctA p.L21L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 21 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTTCGGAGCTGAATGAAACTC 0.537000 27 81 0 0 0.000339439 0 0 FGF21 26291 broad.mit.edu 37 19 49261309 49261309 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49261309G>A ENST00000593756.1 + 4 1034 c.462G>A c.(460-462)cgG>cgA p.R154R FGF21_ENST00000222157.3_Silent_p.R154R Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 154 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CCCCACACCGGGACCCTGCAC 0.682000 17 28 0 0 0.000422831 0 0 MPP2 4355 broad.mit.edu 37 17 41975721 41975721 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:41975721C>T ENST00000269095.4 - 3 363 c.59G>A c.(58-60)gGa>gAa p.G20E MPP2_ENST00000523501.1_Missense_Mutation_p.G9E|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000518766.1_Missense_Mutation_p.G65E|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.G20E|MPP2_ENST00000377184.3_Missense_Mutation_p.G37E|MPP2_ENST00000536246.1_Missense_Mutation_p.G9E NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 20 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GGGGAGGGATCCCAAGTTGTC 0.552000 11 25 0 0 0.00136819 0 0 ANKHD1 54882 broad.mit.edu 37 5 139815696 139815696 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:139815696C>T ENST00000297183.6 + 2 438 c.314C>T c.(313-315)tCa>tTa p.S105L ANKHD1_ENST00000394722.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S105L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S105L|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S105L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTTGAATCATTTATTTTG 0.318000 6 15 0 0 8.12818e-05 0 0 TRIM16L 147166 broad.mit.edu 37 17 18638485 18638485 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:18638485C>T ENST00000449552.2 + 7 2243 c.759C>T c.(757-759)ctC>ctT p.L253L TRIM16L_ENST00000571708.1_Silent_p.L253L|TRIM16L_ENST00000395902.3_Silent_p.L307L|TRIM16L_ENST00000395671.4_Silent_p.L253L|TRIM16L_ENST00000395672.2_Silent_p.L253L|TRIM16L_ENST00000572555.1_Silent_p.L253L|TRIM16L_ENST00000414850.2_3'UTR Q309B1 TR16L_HUMAN tripartite motif containing 16-like 253 B30.2/SPRY. cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 CCTGGAGCCTCCAATGGAACG 0.572000 54 74 0 0 0.000781405 0 0 PLA2R1 22925 broad.mit.edu 37 2 160869882 160869882 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:160869882C>T ENST00000283243.7 - 10 1762 c.1556G>A c.(1555-1557)tGg>tAg p.W519* PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.W519* NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 519 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ATGTCTCTCCCATCCCTTAAA 0.373000 15 28 0 0 0.000219431 0 0 NDST3 9348 broad.mit.edu 37 4 119064801 119064801 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:119064801C>T ENST00000296499.5 + 6 1904 c.1501C>T c.(1501-1503)Caa>Taa p.Q501* NDST3_ENST00000433996.2_Nonsense_Mutation_p.Q420* NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 501 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TAAGAGTATCCAAGGAGGAGA 0.418000 27 19 0 0 0.00106085 0 0 VEZT 55591 broad.mit.edu 37 12 95694281 95694281 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:95694281G>A ENST00000436874.1 + 12 2277 c.2172G>A c.(2170-2172)caG>caA p.Q724Q VEZT_ENST00000261219.6_Silent_p.Q676Q|VEZT_ENST00000356859.4_3'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 724 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CCATTAAGCAGAGGCTGGCAC 0.527000 37 9 0 0 0.000814825 0 0 ZPLD1 131368 broad.mit.edu 37 3 102171970 102171970 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:102171970G>A ENST00000306176.1 + 3 462 c.362G>A c.(361-363)gGa>gAa p.G121E ZPLD1_ENST00000466937.1_Missense_Mutation_p.G105E|ZPLD1_ENST00000491959.1_Missense_Mutation_p.G105E NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 105 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GAGGGCTGTGGAAACAACCTG 0.443000 10 11 0 0 0.00185496 0 0 CFHR2 3080 broad.mit.edu 37 1 196918710 196918710 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:196918710C>T ENST00000367415.4 + 2 298 c.184C>T c.(184-186)Cct>Tct p.P62S CFHR2_ENST00000367421.3_Missense_Mutation_p.P62S|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 62 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TTTTGTGTCTCCTTCAAAATC 0.383000 37 19 0 0 0.000953801 0 0 NPY5R 4889 broad.mit.edu 37 4 164272412 164272412 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:164272412C>T ENST00000515560.1 + 4 2509 c.987C>T c.(985-987)ttC>ttT p.F329F NPY5R_ENST00000338566.3_Silent_p.F329F|NPY5R_ENST00000506953.1_Silent_p.F329F Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 329 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) CCAGTAAGTTCATACCAGGGG 0.393000 15 24 0 0 0.000308642 0 0 XIRP1 165904 broad.mit.edu 37 3 39226980 39226980 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:39226980G>A ENST00000340369.3 - 2 4185 c.3957C>T c.(3955-3957)ccC>ccT p.P1319P XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.P2P NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1319 Pro-rich. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TCTTCTTTGGGGGCATGGTGG 0.607000 38 43 0 0 0.00195071 0 0 USP8 9101 broad.mit.edu 37 15 50791221 50791221 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:50791221C>T ENST00000433963.1 + 21 3793 c.3293C>T c.(3292-3294)tCt>tTt p.S1098F USP8_ENST00000396444.3_Missense_Mutation_p.S1098F|USP8_ENST00000307179.4_Missense_Mutation_p.S1098F|USP8_ENST00000425032.3_Missense_Mutation_p.S992F NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 1098 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TCTGTGAAATCTTCAGCAGCT 0.378000 35 40 0 0 0.00058488 0 0 HCN1 348980 broad.mit.edu 37 5 45262086 45262086 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:45262086T>A ENST00000303230.4 - 8 2667 c.2610A>T c.(2608-2610)gaA>gaT p.E870D NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 870 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTGAGGAAGATTCTCTTGGAA 0.527000 58 71 0 0 0.000781405 0 0 FAM129A 116496 broad.mit.edu 37 1 184775092 184775092 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:184775092G>A ENST00000367511.3 - 11 1627 c.1434C>T c.(1432-1434)ctC>ctT p.L478L FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 478 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TTAAGACTCGGAGTTTAACCT 0.433000 OREG0014050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 47 0 0 0.000375601 0 0 TLL1 7092 broad.mit.edu 37 4 166924680 166924680 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:166924680G>A ENST00000061240.2 + 6 1417 c.770G>A c.(769-771)cGa>cAa p.R257Q TLL1_ENST00000513213.1_Missense_Mutation_p.R257Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R257Q NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 257 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGACCAGATCGAGATAACCAC 0.408000 10 14 0 0 0.000442599 0 0 FST 10468 broad.mit.edu 37 5 52781787 52781787 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:52781787C>T ENST00000256759.3 + 6 1342 c.959C>T c.(958-960)tCg>tTg p.S320L FST_ENST00000396947.3_3'UTR NM_013409.2 NP_037541.1 P19883 FST_HUMAN follistatin 320 hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CTAGCCATTTCGGAAGACACC 0.448000 62 54 0 0 0.000781405 0 0 GRM3 2913 broad.mit.edu 37 7 86394850 86394850 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:86394850G>A ENST00000361669.2 + 2 1488 c.389G>A c.(388-390)gGa>gAa p.G130E GRM3_ENST00000394720.2_Missense_Mutation_p.G128E|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G130E|GRM3_ENST00000536043.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 130 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGTCCTGATGGATCCTATGCC 0.428000 6 6 0 0 0.00116845 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199751 71199751 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:71199751G>A ENST00000554752.2 - 11 2334 c.2335C>T c.(2335-2337)Ccc>Tcc p.P779S MAP3K9_ENST00000553414.1_Missense_Mutation_p.P512S|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P756S|MAP3K9_ENST00000554146.1_Missense_Mutation_p.P507S|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P793S P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 779 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TCCTCCAGGGGAAGCAGCTGG 0.652000 20 38 0 0 0.000586117 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710915 140710915 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140710915C>T ENST00000517417.1 + 1 664 c.664C>T c.(664-666)Cgt>Tgt p.R222C PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R222C NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACCAGTCCGTTCAGGGAC 0.493000 21 28 0 0 0.000295444 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405937 20405937 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:20405937C>T ENST00000580113.1 - 0 926 TCTCCAGGCCCTGGAACACCC 0.587000 7 15 0 0 0.000274275 0 0 L1TD1 54596 broad.mit.edu 37 1 62675616 62675616 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:62675616G>A ENST00000498273.1 + 4 1465 c.1170G>A c.(1168-1170)gaG>gaA p.E390E NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 390 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 TGGATGAAGAGGCCTCAGGGA 0.493000 41 56 0 0 0.00148497 0 0 SLIT3 6586 broad.mit.edu 37 5 168139336 168139336 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:168139336G>A ENST00000519560.1 - 24 2926 c.2507C>T c.(2506-2508)tCc>tTc p.S836F SLIT3_ENST00000332966.8_Missense_Mutation_p.S836F|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.S836F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 836 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGAACGCTGGAAATGTCATT 0.463000 62 72 0 0 0.000781405 0 0 OR8U1 219417 broad.mit.edu 37 11 56143797 56143797 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56143797G>A ENST00000302270.1 + 1 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 p.G233V(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TCAGCTGAGGGAAGACAGAAG 0.463000 7 6 0 0 0.000274275 0 0 SOX10 6663 broad.mit.edu 37 22 38374057 38374057 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:38374057T>C ENST00000396884.2 - 3 796 c.514A>G c.(514-516)Aag>Gag p.K172E POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.K172E NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 172 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GGCTGGTACTTGTAGTCCGGG 0.677000 6 12 0 0 0.00116845 0 0 LDHD 197257 broad.mit.edu 37 16 75148831 75148831 + Silent SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:75148831T>A ENST00000300051.4 - 4 409 c.363A>T c.(361-363)cgA>cgT p.R121R LDHD_ENST00000450168.2_Silent_p.R121R NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 121 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 GCTCCAGGATTCGGTCCATAT 0.637000 19 37 0 0 0.00152264 0 0 UNC5B 219699 broad.mit.edu 37 10 73048424 73048424 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:73048424G>A ENST00000335350.6 + 7 1417 c.1001G>A c.(1000-1002)gGa>gAa p.G334E UNC5B_ENST00000373192.4_Missense_Mutation_p.G334E NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 334 TSP type-1 2. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CCCCAGAACGGAGGCCGTGAC 0.657000 18 18 0 0 0.000566183 0 0 RBM12 10137 broad.mit.edu 37 20 34243230 34243230 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:34243230G>A ENST00000374114.3 - 3 278 c.15C>T c.(13-15)atC>atT p.I5I RBM12_ENST00000359646.1_Silent_p.I5I|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.I5I|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_5'UTR|CPNE1_ENST00000352393.4_5'UTR|CPNE1_ENST00000397446.1_5'UTR NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 5 nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CTTGCAAACGGATGACCACAG 0.527000 OREG0004046 type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 18 0 0 0.00121646 0 0 SMYD1 150572 broad.mit.edu 37 2 88402614 88402614 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:88402614C>T ENST00000419482.2 + 7 1011 c.926C>T c.(925-927)tCc>tTc p.S309F SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.S296F NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 ATACAATTCTCCAAGGATACA 0.458000 30 41 0 0 0.00058488 0 0 CILP 8483 broad.mit.edu 37 15 65499344 65499344 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:65499344C>T ENST00000261883.4 - 4 366 c.200G>A c.(199-201)gGg>gAg p.G67E NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 67 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GTCGCCCTTCCCGCCTGGGTA 0.597000 11 12 0 0 0.00136819 0 0 SWSAP1 126074 broad.mit.edu 37 19 11486272 11486272 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:11486272C>T ENST00000312423.2 + 2 329 c.270C>T c.(268-270)ccC>ccT p.P90P NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 90 GGCCAGCCCCCTCCCTTCTGC 0.607000 46 63 0 0 0.000680045 0 0 ANKRD12 23253 broad.mit.edu 37 18 9257234 9257234 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:9257234C>T ENST00000383440.2 + 8 4157 c.3900C>T c.(3898-3900)ttC>ttT p.F1300F ANKRD12_ENST00000400020.3_Silent_p.F1300F|ANKRD12_ENST00000262126.3_Silent_p.F1323F NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1323 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CCAAACAATTCCAAACAATAT 0.398000 30 57 0 0 0.00058488 0 0 GLRA3 8001 broad.mit.edu 37 4 175580303 175580303 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:175580303G>A ENST00000274093.3 - 8 1475 c.973C>T c.(973-975)Ctt>Ttt p.L325F GLRA3_ENST00000340217.5_Missense_Mutation_p.L325F NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 325 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AACACAAAAAGGAGGCATACT 0.358000 8 12 0 0 0.000157383 0 0 SYCP1 6847 broad.mit.edu 37 1 115455667 115455667 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:115455667G>A ENST00000369522.3 + 19 1783 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K SYCP1_ENST00000369518.1_Missense_Mutation_p.E515K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 515 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TAAGAATACTGAATTAACTTC 0.299000 21 34 0 0 0.00188189 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18644400 18644400 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:18644400G>A ENST00000433979.1 + 19 2694 c.2578G>A c.(2578-2580)Gaa>Aaa p.E860K PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E901K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E860K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 860 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ACTGAAGAAAGAAATTGGCAG 0.328000 67 9 0 0 0.000781405 0 0 CHI3L2 1117 broad.mit.edu 37 1 111784004 111784004 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:111784004C>T ENST00000445067.2 + 11 1745 c.974C>T c.(973-975)cCc>cTc p.P325L CHI3L2_ENST00000524472.1_Missense_Mutation_p.P246L|CHI3L2_ENST00000369748.4_Missense_Mutation_p.P325L|CHI3L2_ENST00000466741.1_Missense_Mutation_p.P246L|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000369744.2_Missense_Mutation_p.P315L Q15782 CH3L2_HUMAN chitinase 3-like 2 325 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CAACAGGTTCCCTACGCAGTC 0.537000 10 21 0 0 0.000219431 0 0 PTPRT 11122 broad.mit.edu 37 20 40727169 40727169 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:40727169G>A ENST00000373198.3 - 28 4039 c.3804C>T c.(3802-3804)ttC>ttT p.F1268F PTPRT_ENST00000373184.1_Silent_p.F1256F|PTPRT_ENST00000373193.3_Silent_p.F1249F|PTPRT_ENST00000356100.2_Silent_p.F1255F|PTPRT_ENST00000373201.1_Silent_p.F1236F|PTPRT_ENST00000373187.1_Silent_p.F1246F|PTPRT_ENST00000373190.1_Silent_p.F1245F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1246 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGTGACCACGAAGGCGGCAG 0.517000 20 37 0 0 0.00152264 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891882 18891882 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:18891882G>A ENST00000317658.3 + 1 838 c.680G>A c.(679-681)aGg>aAg p.R227K NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 227 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) AGTTTTGCAAGGCTTGTGGAA 0.403000 16 5 0 0 0.000566183 0 0 MYBL2 4605 broad.mit.edu 37 20 42344652 42344652 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:42344652C>T ENST00000217026.4 + 14 2155 c.2028C>T c.(2026-2028)ttC>ttT p.F676F MYBL2_ENST00000396863.4_Silent_p.F652F NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 676 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACCAGCTTTTCATGCAGGAGA 0.617000 68 87 0 0 0.000781405 0 0 SLC22A10 387775 broad.mit.edu 37 11 63071643 63071643 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:63071643C>T ENST00000544661.1 + 9 1173 c.745C>T c.(745-747)Cca>Tca p.P249S SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000332793.6_Missense_Mutation_p.S450F|SLC22A10_ENST00000525620.1_Intron Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 0 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCTACTTTTTCCAGTGTTGCT 0.463000 45 59 0 0 0.000781405 0 0 F8 2157 broad.mit.edu 37 X 154134723 154134723 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:154134723A>G ENST00000360256.4 - 15 5545 c.5345T>C c.(5344-5346)aTa>aCa p.I1782T NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1782 F5/8 type A 3.|Plastocyanin-like 5. I -> R (in HEMA; severe sporadic). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTGCTCTTATATATGGCCC 0.338000 24 13 0 0 0.00127121 0 0 GHR 2690 broad.mit.edu 37 5 42718865 42718865 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:42718865G>A ENST00000230882.4 + 10 1446 c.1256G>A c.(1255-1257)gGg>gAg p.G419E GHR_ENST00000537449.1_Missense_Mutation_p.G232E|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.G397E 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 419 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) AGGTTAAAAGGGGAAGCAGAT 0.468000 28 25 0 0 0.000878237 0 0 C2orf16 84226 broad.mit.edu 37 2 27802577 27802577 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27802577G>T ENST00000408964.2 + 1 3189 c.3138G>T c.(3136-3138)atG>atT p.M1046I NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1046 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TTGTTCCAATGGAAGAAAGTG 0.468000 40 55 2.40228e-13 1.54457e-12 0.000680045 1 0 TRIM55 84675 broad.mit.edu 37 8 67086746 67086746 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:67086746C>T ENST00000315962.4 + 10 1938 c.1565C>T c.(1564-1566)gCt>gTt p.A522V TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000350034.4_Missense_Mutation_p.A215V|TRIM55_ENST00000353317.5_Missense_Mutation_p.A426V NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 522 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CAGGCTGCAGCTCCAGCGAGT 0.478000 21 55 0 0 0.000295444 0 0 OLFM3 118427 broad.mit.edu 37 1 102270070 102270070 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:102270070A>G ENST00000370103.4 - 6 1314 c.1101T>C c.(1099-1101)acT>acC p.T367T OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.T387T|OLFM3_ENST00000536598.1_3'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 387 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TGGGGTAGCCAGTGCTCCAGC 0.478000 5 8 0 0 0.00116845 0 0 P2RX3 5024 broad.mit.edu 37 11 57135900 57135900 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:57135900C>A ENST00000263314.2 + 10 1026 c.992C>A c.(991-993)tCt>tAt p.S331Y NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 331 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GCCTTTACTTCTGTGGGAGTG 0.612000 37 59 1.30998e-17 8.44733e-17 0.00111076 1 0 IDO1 3620 broad.mit.edu 37 8 39785614 39785614 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:39785614G>A ENST00000518237.1 + 10 1761 c.1122G>A c.(1120-1122)ctG>ctA p.L374L IDO1_ENST00000522495.1_Silent_p.L374L|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 374 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) CTTCAAAACTGGAAGCCAAAG 0.438000 10 14 0 0 0.000978159 0 0 NLRC5 84166 broad.mit.edu 37 16 57054760 57054760 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57054760G>A ENST00000436936.1 + 3 361 c.136G>A c.(136-138)Gag>Aag p.E46K NLRC5_ENST00000308149.7_Missense_Mutation_p.E46K|NLRC5_ENST00000539144.1_Missense_Mutation_p.E46K|NLRC5_ENST00000262510.6_Missense_Mutation_p.E46K Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 46 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TTCCAGGAACGAGACCTTGGA 0.532000 12 18 0 0 0.000422831 0 0 TCERG1 10915 broad.mit.edu 37 5 145838453 145838453 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:145838453T>C ENST00000296702.5 + 4 483 c.445T>C c.(445-447)Tat>Cat p.Y149H TCERG1_ENST00000394421.2_Missense_Mutation_p.Y149H NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 149 WW 1. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGTTTATTATTATAATGC 0.368000 49 53 0 0 0.000781405 0 0 NXF3 56000 broad.mit.edu 37 X 102335530 102335530 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:102335530C>T ENST00000395065.3 - 10 1002 c.901G>A c.(901-903)Gaa>Aaa p.E301K NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000497850.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 301 Leu-rich. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGGAACAATTCCAGGATGGAG 0.468000 31 4 0 0 0.00058488 0 0 PAMR1 25891 broad.mit.edu 37 11 35457605 35457605 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:35457605G>A ENST00000378880.2 - 9 1624 c.1179C>T c.(1177-1179)gcC>gcT p.A393A PAMR1_ENST00000278360.3_Silent_p.A410A|PAMR1_ENST00000378878.3_Silent_p.A282A|PAMR1_ENST00000532848.1_Silent_p.A353A NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 393 Sushi 2. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CAAAGGGAAGGGCTGGCTTCT 0.572000 111 15 0 0 0.000781405 0 0 SLC22A10 387775 broad.mit.edu 37 11 63067081 63067081 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:63067081C>T ENST00000544661.1 + 7 1013 c.585C>T c.(583-585)atC>atT p.I195I SLC22A10_ENST00000535888.1_Silent_p.I140I|SLC22A10_ENST00000526800.1_Silent_p.I190I|SLC22A10_ENST00000332793.6_Silent_p.I350I|SLC22A10_ENST00000525620.1_3'UTR Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 350 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GTAAAAGGATCTGTATCCTGG 0.423000 6 12 0 0 8.12818e-05 0 0 CYP2C18 1562 broad.mit.edu 37 10 96480210 96480210 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:96480210G>A ENST00000285979.6 + 6 1076 c.877G>A c.(877-879)Gat>Aat p.D293N CYP2C18_ENST00000339022.5_Missense_Mutation_p.D234N|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) CACTGTAACTGATATGTTTGG 0.398000 6 7 0 0 0.00116845 0 0 VWA2 340706 broad.mit.edu 37 10 116049017 116049017 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:116049017G>A ENST00000603594.1 + 12 2212 c.1891G>A c.(1891-1893)Ggt>Agt p.G631S VWA2_ENST00000392982.3_Missense_Mutation_p.G631S NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 631 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) TGCCCGGCCTGGTGTCCCCAA 0.627000 7 16 0 0 0.000274275 0 0 DMD 1756 broad.mit.edu 37 X 32305680 32305680 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:32305680C>T ENST00000357033.4 - 43 6462 c.6256G>A c.(6256-6258)Gaa>Aaa p.E2086K DMD_ENST00000378677.2_Missense_Mutation_p.E2082K NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2086 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTAACTTTTTCCCATTGGAAA 0.398000 14 2 0 0 0.000308642 0 0 PALMD 54873 broad.mit.edu 37 1 100155120 100155120 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:100155120G>A ENST00000263174.4 + 7 1679 c.1304G>A c.(1303-1305)gGa>gAa p.G435E PALMD_ENST00000605497.1_Missense_Mutation_p.G435E NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 435 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TTTCTGACAGGATATGATGGG 0.478000 10 9 0 0 0.000673444 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140865602 140865602 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140865602C>T ENST00000306593.1 + 1 862 c.862C>T c.(862-864)Cgt>Tgt p.R288C PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACCCCTGATCGTGTAAGAAA 0.512000 42 65 0 0 0.000781405 0 0 RNF180 285671 broad.mit.edu 37 5 63509416 63509416 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:63509416C>T ENST00000389100.4 + 4 335 c.263C>T c.(262-264)cCt>cTt p.P88L RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.P88L NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 88 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) CTGAATTGTCCTTTCTGTGGG 0.423000 42 71 0 0 0.000781405 0 0 COL3A1 1281 broad.mit.edu 37 2 189864098 189864098 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:189864098G>A ENST00000304636.3 + 30 2280 c.2110G>A c.(2110-2112)Gaa>Aaa p.E704K COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 704 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCCTGGTCCCGAAGGAGGAAA 0.483000 3 3 0 0 6.4e-05 0 0 TARBP1 6894 broad.mit.edu 37 1 234573064 234573064 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:234573064G>A ENST00000040877.1 - 13 2188 c.2189C>T c.(2188-2190)tCt>tTt p.S730F NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 730 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AATAAATTCAGAAATGCTCTC 0.333000 115 68 0 0 0.000781405 0 0 DGKH 160851 broad.mit.edu 37 13 42729831 42729831 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:42729831C>T ENST00000538674.1 + 2 161 c.16C>T c.(16-18)Cag>Tag p.Q6* DGKH_ENST00000536612.1_Missense_Mutation_p.S37L|DGKH_ENST00000337343.4_Missense_Mutation_p.S173L|DGKH_ENST00000379274.2_Missense_Mutation_p.S37L|DGKH_ENST00000261491.4_Missense_Mutation_p.S173L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.S173L Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 963 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GAACATTTCTCAGGGATGCAC 0.522000 44 47 0 0 0.000509022 0 0 RBP3 5949 broad.mit.edu 37 10 48387869 48387869 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:48387869G>A ENST00000224600.4 - 1 3122 c.3009C>T c.(3007-3009)atC>atT p.I1003I NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1003 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CATTCTCAGGGATATGGGCTG 0.602000 44 45 0 0 0.000509022 0 0 C20orf24 55969 broad.mit.edu 37 20 35240543 35240543 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:35240543C>T ENST00000342422.3 + 3 479 c.349C>T c.(349-351)Cct>Tct p.P117S C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR NM_199483.2 NP_955777.1 chromosome 20 open reading frame 24 breast(1)|kidney(1)|lung(2) 4 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) AACCCCAGCCCCTTGGAACTT 0.498000 92 160 0 0 0.000781405 0 0 PKD1L1 168507 broad.mit.edu 37 7 47921678 47921678 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:47921678C>T ENST00000289672.2 - 20 3321 c.3271G>A c.(3271-3273)Gac>Aac p.D1091N NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1091 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AAGCTGGTGTCCTTAGCTAGG 0.453000 18 34 0 0 0.00188189 0 0 PLCH1 23007 broad.mit.edu 37 3 155282849 155282849 + Silent SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:155282849T>C ENST00000460012.1 - 8 1191 c.834A>G c.(832-834)gaA>gaG p.E278E PLCH1_ENST00000494598.1_Silent_p.E296E|PLCH1_ENST00000447496.2_Silent_p.E296E|PLCH1_ENST00000334686.6_Silent_p.E278E|PLCH1_ENST00000340059.7_Silent_p.E296E|PLCH1_ENST00000414191.1_Silent_p.E278E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 296 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) CTTGGTACACTTCATGGTGCA 0.458000 8 24 0 0 0.000442599 0 0 MAML2 84441 broad.mit.edu 37 11 95826061 95826061 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:95826061G>A ENST00000524717.1 - 2 2418 c.1134C>T c.(1132-1134)ggC>ggT p.G378G NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 378 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GCTGAGGAGAGCCTGAGGGGC 0.582000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 9 14 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179428394 179428394 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179428394T>C ENST00000589042.1 - 326 82689 c.82465A>G c.(82465-82467)Aca>Gca p.T27489A TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18549A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T18616A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T18424A|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T25848A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T24921A|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25848 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) CGTGCCCATGTTACTACCATA 0.483000 17 16 0 0 0.000958276 0 0 DNAH17 8632 broad.mit.edu 37 17 76525569 76525569 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:76525569G>A ENST00000389840.5 - 22 3616 c.3492C>T c.(3490-3492)atC>atT p.I1164I DNAH17_ENST00000585328.1_Silent_p.I1161I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCTTCAAGTGGATCTCCTCTG 0.597000 33 100 0 0 0.00170553 0 0 CLIP4 79745 broad.mit.edu 37 2 29366724 29366724 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:29366724C>T ENST00000320081.5 + 7 1053 c.798C>T c.(796-798)ctC>ctT p.L266L CLIP4_ENST00000404424.1_Silent_p.L266L|CLIP4_ENST00000401605.1_Silent_p.L266L|CLIP4_ENST00000401617.2_Silent_p.L159L NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 266 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) AGGCCATGCTCCCAAATTATG 0.488000 25 36 0 0 0.00047179 0 0 BRWD1 54014 broad.mit.edu 37 21 40646331 40646331 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:40646331T>A ENST00000342449.3 - 13 1291 c.1213A>T c.(1213-1215)Att>Ttt p.I405F BRWD1_ENST00000333229.2_Missense_Mutation_p.I405F|BRWD1_ENST00000380800.3_Missense_Mutation_p.I405F NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCCAATAAAATGCTCCTCCAT 0.413000 30 43 0 0 0.000814825 0 0 SCN2A 6326 broad.mit.edu 37 2 166165763 166165763 + Missense_Mutation SNP C C T rs2228981 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:166165763C>T ENST00000357398.3 + 6 984 c.694C>T c.(694-696)Cca>Tca p.P232S SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.P232S|SCN2A_ENST00000375437.2_Intron Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 232 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTCTGTAATTCCAGGTAAGAA 0.373000 11 17 0 0 0.000673444 0 0 OR10G4 390264 broad.mit.edu 37 11 123886880 123886880 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:123886880T>G ENST00000320891.4 + 1 599 c.599T>G c.(598-600)gTg>gGg p.V200G NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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;0.0401) GTCATCTTTGTGGACATTGGG 0.552000 37 22 0 0 0.00148497 0 0 KIAA1199 57214 broad.mit.edu 37 15 81199035 81199035 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:81199035G>A ENST00000394685.3 + 13 1862 c.1443G>A c.(1441-1443)gaG>gaA p.E481E RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.E481E|KIAA1199_ENST00000220244.3_Silent_p.E481E|RP11-351M8.1_ENST00000560560.1_Intron Q8WUJ3 K1199_HUMAN KIAA1199 481 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCGGGGAGGAGATAGACGGCG 0.572000 31 37 0 0 0.00128727 0 0 NEUROG2 63973 broad.mit.edu 37 4 113436414 113436414 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:113436414C>T ENST00000313341.3 - 2 544 c.218G>A c.(217-219)gGc>gAc p.G73D NM_024019.3 NP_076924.1 Q9H2A3 NGN2_HUMAN neurogenin 2 73 positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent nucleus E-box binding central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2) 12 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.00168) GGGCCGGCAGCCCTCCGCACC 0.786000 5 4 0 0 0.000602214 0 0 MIA2 117153 broad.mit.edu 37 14 39722131 39722131 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:39722131G>A ENST00000280082.3 + 5 1946 c.1747G>A c.(1747-1749)Gat>Aat p.D583N RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 0 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GGTTTCAACTGATAACTCTTT 0.358000 8 13 0 0 0.000157383 0 0 NCSTN 23385 broad.mit.edu 37 1 160326137 160326137 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:160326137G>A ENST00000368063.1 + 15 1859 c.1579_splice c.e15+1 p.G527_splice NCSTN_ENST00000294785.5_Splice_Site_p.G547_splice|NCSTN_ENST00000392212.4_Splice_Site_p.G527_splice|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368065.4_Splice_Site_p.G289_splice|NCSTN_ENST00000535857.1_Splice_Site_p.G409_splice Q92542 NICA_HUMAN nicastrin 547 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTCCTACTTGGGTAAGCATCT 0.443000 30 55 0 0 0.000491102 0 0 BEST3 144453 broad.mit.edu 37 12 70091527 70091527 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:70091527G>A ENST00000330891.5 - 2 278 c.52C>T c.(52-54)Cat>Tat p.H18Y BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.H18Y|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000551160.1_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 18 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AGTAACCTATGAAATCCAAAA 0.348000 116 26 0 0 0.000781405 0 0 GEMIN5 25929 broad.mit.edu 37 5 154267830 154267830 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:154267830G>A ENST00000285873.7 - 28 4542 c.4467C>T c.(4465-4467)ctC>ctT p.L1489L NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1489 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTTCTGAAGGAGCTCTTGGG 0.498000 38 46 0 0 0.00170553 0 0 MIR7-3HG 284424 broad.mit.edu 37 19 4770789 4770789 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:4770789G>A ENST00000586721.1 + 0 509 MIR7-3_ENST00000384898.1_RNA GACTCCCTTCGACCTTCGCCT 0.577000 27 36 0 0 0.000720815 0 0 SH2B1 25970 broad.mit.edu 37 16 28877985 28877985 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:28877985C>T ENST00000337120.5 + 1 3861 c.570C>T c.(568-570)ggC>ggT p.G190G SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000359285.5_Silent_p.G190G|SH2B1_ENST00000322610.8_Silent_p.G190G|SH2B1_ENST00000395532.4_Silent_p.G190G|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 190 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCTCGTCAGGCCCCCCAGTCT 0.652000 29 33 0 0 0.000339439 0 0 PFKM 5213 broad.mit.edu 37 12 48535532 48535532 + Silent SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:48535532C>A ENST00000340802.6 + 18 1859 c.1635C>A c.(1633-1635)ccC>ccA p.P545P PFKM_ENST00000395233.2_Silent_p.P443P|PFKM_ENST00000547587.1_Silent_p.P474P|PFKM_ENST00000359794.5_Silent_p.P474P|PFKM_ENST00000312352.7_Silent_p.P474P|PFKM_ENST00000551804.1_Silent_p.P443P NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 474 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GGACTCTACCCAAGAAGAGCT 0.473000 6 128 0.000274275 0.00172819 0.000274275 1 0 OR8H2 390151 broad.mit.edu 37 11 55872560 55872560 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55872560C>T ENST00000313503.1 + 1 42 c.42C>T c.(40-42)atC>atT p.I14I NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CTGACTTCATCCTTATGGGAC 0.433000 HNSCC(53;0.14) 45 60 0 0 0.000781405 0 0 ADCY6 112 broad.mit.edu 37 12 49165664 49165664 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:49165664G>A ENST00000307885.4 - 18 3574 c.2880C>T c.(2878-2880)ttC>ttT p.F960F ADCY6_ENST00000357869.3_Silent_p.F907F|ADCY6_ENST00000550422.1_Silent_p.F907F NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 960 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CCCGGGCCAGGAAGTGGGCCG 0.557000 42 6 0 0 0.000589545 0 0 SNCAIP 9627 broad.mit.edu 37 5 121799218 121799218 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:121799218C>T ENST00000261367.7 + 14 4427 c.2999C>T c.(2998-3000)tCc>tTc p.S1000F CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S587F|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_3'UTR|SNCAIP_ENST00000414317.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S1000F Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 0 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ATGAAGAAATCCTACAGCATA 0.348000 7 15 0 0 0.000157383 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331376 100331376 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:100331376G>A ENST00000341853.1 - 0 2815 NR_003260.1 AATGGCAGAAGAAACTCAACA 0.567000 10 11 0 0 0.000442599 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103574820 103574820 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:103574820C>T ENST00000380069.3 + 10 2018 c.1942C>T c.(1942-1944)Ctg>Ttg p.L648L NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 648 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CCAGCGGCACCTGGAGACTCT 0.592000 36 65 0 0 0.000509022 0 0 ALPK3 57538 broad.mit.edu 37 15 85383214 85383214 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:85383214C>T ENST00000258888.5 + 5 1477 c.1310C>T c.(1309-1311)cCc>cTc p.P437L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 437 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCGCCGGGCCCCTCGGTCCCT 0.667000 14 7 0 0 0.00185496 0 0 IL17RC 84818 broad.mit.edu 37 3 9969872 9969872 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:9969872C>T ENST00000295981.3 + 10 1276 c.1058C>T c.(1057-1059)tCc>tTc p.S353F IL17RC_ENST00000403601.3_Missense_Mutation_p.S282F|IL17RC_ENST00000416074.2_Missense_Mutation_p.S138F|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.S282F|IL17RC_ENST00000383812.4_Missense_Mutation_p.S267F|IL17RC_ENST00000455057.1_Missense_Mutation_p.S267F NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 353 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAACCTGACTCCGTTAGGACG 0.647000 34 57 0 0 0.000692331 0 0 SATB1 6304 broad.mit.edu 37 3 18462346 18462346 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:18462346G>A ENST00000338745.6 - 2 1848 c.114C>T c.(112-114)agC>agT p.S38S SATB1_ENST00000454909.2_Silent_p.S38S|SATB1_ENST00000417717.2_Silent_p.S38S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Silent_p.S38S NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 38 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTCCTAGCGGGCTCCCGTTCT 0.512000 33 52 0 0 0.00058488 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938476 2938476 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:2938476G>A ENST00000378404.2 + 1 431 c.226G>A c.(226-228)Gag>Aag p.E76K NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 76 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CTCCCCTTTCGAGCGTGGCCT 0.602000 17 29 0 0 0.00074312 0 0 WDR19 57728 broad.mit.edu 37 4 39255580 39255580 + Silent SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:39255580C>A ENST00000399820.3 + 26 3085 c.2931C>A c.(2929-2931)tcC>tcA p.S977S WDR19_ENST00000288634.7_Silent_p.S817S NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 977 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TTGTCATGTCCAAATGCAACA 0.353000 7 128 0.000157383 0.000993792 0.000157383 1 0 NRXN3 9369 broad.mit.edu 37 14 79432563 79432563 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:79432563G>A ENST00000554719.1 + 9 1963 c.1472G>A c.(1471-1473)gGa>gAa p.G491E NRXN3_ENST00000335750.5_Missense_Mutation_p.G491E NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCTCGTTTTGGACTGAGGAAC 0.468000 24 32 0 0 0.000586117 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022598 20022598 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:20022598G>A ENST00000440926.1 - 10 1349 c.879C>T c.(877-879)ctC>ctT p.L293L SLC18A1_ENST00000276373.5_Silent_p.L293L|SLC18A1_ENST00000437980.1_Silent_p.L293L|SLC18A1_ENST00000381608.4_Silent_p.L293L|SLC18A1_ENST00000265808.7_Silent_p.L293L|SLC18A1_ENST00000519026.1_Silent_p.L293L NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 293 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) GAAGCATAAAGAGGGGAGTCC 0.493000 28 34 0 0 0.000339439 0 0 MUC16 94025 broad.mit.edu 37 19 9067149 9067149 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9067149G>A ENST00000397910.4 - 3 20500 c.20297C>T c.(20296-20298)tCg>tTg p.S6766L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6768 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S6766L(2)|p.S2399L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCGCCATCGAGTGTGTTCC 0.483000 48 51 0 0 0.000781405 0 0 SCN2B 6327 broad.mit.edu 37 11 118039345 118039345 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:118039345G>A ENST00000278947.5 - 2 433 c.192C>T c.(190-192)tcC>tcT p.S64S NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 64 Ig-like C2-type. synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) TCCAGTTCAGGGAGAACTGTT 0.587000 67 30 0 0 0.000781405 0 0 DIAPH1 1729 broad.mit.edu 37 5 140962857 140962857 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140962857C>A ENST00000253811.6 - 6 676 c.536G>T c.(535-537)tGg>tTg p.W179L DIAPH1_ENST00000520569.1_Missense_Mutation_p.W125L|DIAPH1_ENST00000398557.4_Missense_Mutation_p.W179L|DIAPH1_ENST00000398562.2_Missense_Mutation_p.W170L|DIAPH1_ENST00000518047.1_Missense_Mutation_p.W170L|DIAPH1_ENST00000398566.3_Missense_Mutation_p.W170L|DIAPH1_ENST00000389057.5_Missense_Mutation_p.W170L|DIAPH1_ENST00000389054.3_Missense_Mutation_p.W179L O60610 DIAP1_HUMAN diaphanous-related formin 1 179 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding p.W179L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTTGCACCCAACTGTAAGG 0.408000 8 189 0.000673444 0.00423727 0.000673444 1 0 PCDHA10 56139 broad.mit.edu 37 5 140236762 140236762 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140236762G>A ENST00000307360.5 + 1 1129 c.1129G>A c.(1129-1131)Gat>Aat p.D377N PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|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|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D377N 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) TTCTGACCATGATTCAGGAGC 0.502000 48 53 0 0 0.000781405 0 0 CDH16 1014 broad.mit.edu 37 16 66947150 66947150 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:66947150C>T ENST00000299752.4 - 9 1131 c.938G>A c.(937-939)gGc>gAc p.G313D CDH16_ENST00000570262.1_Missense_Mutation_p.G233D|CDH16_ENST00000565796.1_Missense_Mutation_p.G313D|CDH16_ENST00000394055.3_Missense_Mutation_p.G313D|CDH16_ENST00000568632.1_Missense_Mutation_p.G216D NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 313 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) ATAGTCCTCGCCATGGGAATT 0.627000 29 44 0 0 0.000339439 0 0 MXRA5 25878 broad.mit.edu 37 X 3239245 3239245 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:3239245G>A ENST00000217939.6 - 5 4635 c.4481C>T c.(4480-4482)tCg>tTg p.S1494L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1494 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGATGGGGACGAGGATGCTGG 0.483000 26 3 0 0 0.000720815 0 0 TLN2 83660 broad.mit.edu 37 15 62993384 62993384 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:62993384G>A ENST00000561311.1 + 16 1897 c.1667G>A c.(1666-1668)gGa>gAa p.G556E TLN2_ENST00000306829.6_Missense_Mutation_p.G556E Q9Y4G6 TLN2_HUMAN talin 2 556 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.G556A(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ATCACGGCCGGAACGGCTTCA 0.433000 22 30 0 0 0.00188189 0 0 OR4K17 390436 broad.mit.edu 37 14 20586390 20586390 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20586390C>T ENST00000315543.4 + 1 825 c.825C>T c.(823-825)atC>atT p.I275I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGCTCACATCACAGTGGTGA 0.428000 9 11 0 0 0.000442599 0 0 RHPN2 85415 broad.mit.edu 37 19 33493201 33493201 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:33493201C>T ENST00000254260.3 - 9 1092 c.1057G>A c.(1057-1059)Gcg>Acg p.A353T RHPN2_ENST00000400226.4_Missense_Mutation_p.A202T NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 353 BRO1. signal transduction perinuclear region of cytoplasm protein binding p.A353T(2) NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GCCAGGGCCGCGTAGTGGTGG 0.642000 6 46 0 0 0.000274275 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66288844 66288844 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:66288844G>A ENST00000419755.3 + 9 1016 c.938G>A c.(937-939)aGa>aAa p.R313K BBS1_ENST00000529766.1_3'UTR|ZDHHC24_ENST00000526986.1_3'UTR|BBS1_ENST00000537537.1_Missense_Mutation_p.R164K|BBS1_ENST00000455748.2_Missense_Mutation_p.R179K|BBS1_ENST00000318312.7_Missense_Mutation_p.R276K|BBS1_ENST00000393994.2_Intron TATATTCTGAGAAGGTAGCCA 0.552000 20 32 0 0 0.000295444 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496691 20496691 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:20496691C>T ENST00000555186.1 + 0 744 NR_038836.1 TTGTGAACTCCATGGTTTGAA 0.423000 7 82 0 0 0.000274275 0 0 ACADM 34 broad.mit.edu 37 1 76194104 76194104 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:76194104C>T ENST00000370841.4 + 2 486 c.49C>T c.(49-51)Cgt>Tgt p.R17C ACADM_ENST00000420607.2_Missense_Mutation_p.R21C|ACADM_ENST00000541113.1_Intron|ACADM_ENST00000370834.5_Missense_Mutation_p.R17C|ACADM_ENST00000543667.1_Intron NM_000016.4|NM_001127328.1 NP_000007.1|NP_001120800.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 17 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 AAGTATTTCTCGTTTTCATTG 0.313000 60 84 0 0 0.000781405 0 0 ZNF16 7564 broad.mit.edu 37 8 146171581 146171581 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:146171581G>A ENST00000276816.4 - 3 198 c.12C>T c.(10-12)ctC>ctT p.L4L ZNF16_ENST00000394909.2_Silent_p.L4L NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GGCGAGTTCTGAGGCTGGGCA 0.597000 12 19 0 0 0.00185496 0 0 GCK 2645 broad.mit.edu 37 7 44190561 44190561 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:44190561G>A ENST00000403799.3 - 4 946 c.477C>T c.(475-477)atC>atT p.I159I GCK_ENST00000437084.1_Silent_p.I142I|GCK_ENST00000395796.3_Silent_p.I158I|GCK_ENST00000345378.2_Silent_p.I160I NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 159 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CCACCTTATCGATGTCTTCGT 0.567000 135 163 0 0 0.000781405 0 0 RP1L1 94137 broad.mit.edu 37 8 10466594 10466594 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:10466594G>A ENST00000382483.3 - 4 5237 c.5014C>T c.(5014-5016)Ccc>Tcc p.P1672S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1672 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTGGCCTTGGGGGACATAGGG 0.627000 23 39 0 0 0.000586117 0 0 CFHR4 10877 broad.mit.edu 37 1 196881972 196881972 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:196881972G>A ENST00000367416.2 + 7 1234 c.1097G>A c.(1096-1098)gGa>gAa p.G366E CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G120E|CFHR4_ENST00000367418.1_Missense_Mutation_p.G120E NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 tGTAAACCAGGATATGCAACA 0.294000 33 35 0 0 0.00178596 0 0 GOLGB1 2804 broad.mit.edu 37 3 121415004 121415004 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:121415004C>T ENST00000393667.3 - 13 4476 c.4366G>A c.(4366-4368)Gat>Aat p.D1456N GOLGB1_ENST00000340645.5_Missense_Mutation_p.D1451N NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1451 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) ATCCTCTCATCATGCTCTTTG 0.378000 41 59 0 0 0.000589545 0 0 KAT6A 7994 broad.mit.edu 37 8 41792309 41792309 + Silent SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:41792309G>T ENST00000396930.3 - 18 3972 c.3429C>A c.(3427-3429)tcC>tcA p.S1143S KAT6A_ENST00000406337.1_Silent_p.S1143S|KAT6A_ENST00000265713.2_Silent_p.S1143S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1143 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TCAAAGGTGTGGATGTATCTG 0.418000 9 367 0.00136819 0.00858408 0.00136819 1 0 EPHB3 2049 broad.mit.edu 37 3 184298565 184298565 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:184298565C>T ENST00000330394.2 + 13 2889 c.2437C>T c.(2437-2439)Cgg>Tgg p.R813W EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 813 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CATAGCCTATCGGAAGTTCAC 0.607000 18 23 0 0 0.00074312 0 0 ZNF548 147694 broad.mit.edu 37 19 57911020 57911020 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:57911020G>A ENST00000366197.5 + 3 1615 c.1365G>A c.(1363-1365)ggG>ggA p.G455G AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Silent_p.G467G NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAGAGTGTGGGAAAGCCTTTA 0.448000 21 30 0 0 0.000295444 0 0 OR2G3 81469 broad.mit.edu 37 1 247769009 247769009 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247769009G>A ENST00000320002.2 + 1 154 c.122G>A c.(121-123)gGa>gAa p.G41E RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACCCTTGTGGGAAACTTCACC 0.448000 63 121 0 0 0.000781405 0 0 CACNA2D1 781 broad.mit.edu 37 7 81600048 81600048 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:81600048C>T ENST00000356860.3 - 27 2485 c.2147G>A c.(2146-2148)gGa>gAa p.G716E CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G728E|CACNA2D1_ENST00000535308.1_5'UTR NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 728 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGCTTTCACTCCCTTGCTGAA 0.338000 13 19 0 0 0.000566183 0 0 ESRP2 80004 broad.mit.edu 37 16 68267908 68267908 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:68267908C>T ENST00000473183.2 - 3 968 c.430G>A c.(430-432)Gcc>Acc p.A144T ESRP2_ENST00000565858.1_Missense_Mutation_p.A144T Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 144 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TTCCTGGAGGCCTCGGGGTGC 0.627000 8 10 0 0 0.000274275 0 0 BCR 613 broad.mit.edu 37 22 23615827 23615827 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:23615827C>A ENST00000305877.8 + 8 2732 c.1981C>A c.(1981-1983)Ctg>Atg p.L661M BCR_ENST00000359540.3_Missense_Mutation_p.L661M NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 661 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GCAGGACTTGCTGAAGCACAC 0.572000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 22 38 3.01185e-09 1.91831e-08 0.000586117 1 0 CFHR2 3080 broad.mit.edu 37 1 196918756 196918756 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:196918756G>A ENST00000367415.4 + 2 344 c.230G>A c.(229-231)tGg>tAg p.W77* CFHR2_ENST00000367421.3_Nonsense_Mutation_p.W77*|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 77 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 GAAGAAGGATGGTCACCAACA 0.403000 8 42 0 0 0.000673444 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607447 31607447 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:31607447C>T ENST00000170150.3 + 11 1166 c.971C>T c.(970-972)cCt>cTt p.P324L NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 324 extracellular region lipid binding GGTGCCACACCTGTGGCCATG 0.672000 14 20 0 0 0.000308642 0 0 KMT2C 58508 broad.mit.edu 37 7 151879201 151879201 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:151879201G>A ENST00000355193.2 - 36 5962 c.5744C>T c.(5743-5745)tCc>tTc p.S1915F KMT2C_ENST00000262189.6_Missense_Mutation_p.S1915F lysine (K)-specific methyltransferase 2C ATTTCTTCTGGAAAAACTATG 0.473000 41 55 0 0 0.00148497 0 0 EPHA8 2046 broad.mit.edu 37 1 22902869 22902869 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:22902869G>A ENST00000166244.3 + 3 391 c.319G>A c.(319-321)Gac>Aac p.D107N EPHA8_ENST00000374644.4_Missense_Mutation_p.D107N|EPHA8_ENST00000538803.1_Missense_Mutation_p.D107N NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 107 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TACCCTGCGCGACTGCAACAG 0.622000 22 31 0 0 0.00047179 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64603243 64603243 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64603243G>A ENST00000342711.5 - 14 1748 c.1749C>T c.(1747-1749)tcC>tcT p.S583S NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 583 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CCTTGGCCTGGGACGACTCCT 0.662000 11 21 0 0 0.000978159 0 0 LOC440040 440040 broad.mit.edu 37 11 49831858 49831858 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:49831858C>T ENST00000527477.1 + 0 2083 AAGCCCTCTTCCTTGTGCCTT 0.368000 19 25 0 0 0.000958276 0 0 LOC440040 440040 broad.mit.edu 37 11 49831850 49831850 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:49831850G>A ENST00000527477.1 + 0 2075 ATCCCATAAAGCCCTCTTCCT 0.373000 29 25 0 0 0.000878237 0 0 PCDH12 51294 broad.mit.edu 37 5 141337251 141337251 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:141337251C>T ENST00000231484.3 - 1 1376 c.166G>A c.(166-168)Gag>Aag p.E56K NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 56 Cadherin 1. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTCTCCTCCCGGCCCAGT 0.602000 48 61 0 0 0.000781405 0 0 PKD1L1 168507 broad.mit.edu 37 7 47851482 47851482 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:47851482G>A ENST00000289672.2 - 50 7564 c.7514C>T c.(7513-7515)tCc>tTc p.S2505F C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2505 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTCCACCAGGGATGAGGGGAC 0.592000 4 6 0 0 0.00024832 0 0 C1orf158 93190 broad.mit.edu 37 1 12806420 12806420 + Silent SNP G G A rs3192728 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12806420G>A ENST00000288048.5 + 1 258 c.42G>A c.(40-42)ccG>ccA p.P14P C1orf158_ENST00000376210.3_Silent_p.P14P|C1orf158_ENST00000474179.1_3'UTR NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 14 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTACTCCGAGCTGGCAGA 0.478000 20 35 0 0 0.00188189 0 0 SMO 6608 broad.mit.edu 37 7 128845089 128845089 + Missense_Mutation SNP G G A rs138284001 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:128845089G>A ENST00000249373.3 + 3 863 c.583G>A c.(583-585)Gtg>Atg p.V195M NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 195 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCAGTGCGAAGTGCCCTTGGT 0.582000 Mis skin basal cell 20 29 0 0 0.00188189 0 0 PDZD2 23037 broad.mit.edu 37 5 32061115 32061115 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:32061115G>A ENST00000438447.1 + 14 2714 c.2326G>A c.(2326-2328)Gat>Aat p.D776N PDZD2_ENST00000282493.3_Missense_Mutation_p.D776N O15018 PDZD2_HUMAN PDZ domain containing 2 776 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TAGCCGCGGGGATCAAATCCT 0.493000 26 32 0 0 0.001512 0 0 OR52D1 390066 broad.mit.edu 37 11 5510223 5510223 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:5510223C>T ENST00000322641.5 + 1 309 c.287C>T c.(286-288)tCc>tTc p.S96F HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 96 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) GGTGAGATTTCCTTTGGTGGA 0.498000 18 4 0 0 0.00074312 0 0 SPHKAP 80309 broad.mit.edu 37 2 228860340 228860340 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:228860340G>A ENST00000392056.3 - 8 4565 c.4519C>T c.(4519-4521)Ccc>Tcc p.P1507S SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1507S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1507 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGAGGGTTGGGGGCCTCATCG 0.552000 10 22 0 0 0.000442599 0 0 PLAG1 5324 broad.mit.edu 37 8 57080813 57080813 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:57080813G>A ENST00000316981.3 - 4 495 c.16C>T c.(16-18)Cct>Tct p.P6S PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.P6S NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 6 Interacts with KPNA2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) AAATCACCAGGAATGACAGTG 0.463000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 4 23 0 0 0.000602214 0 0 USP4 7375 broad.mit.edu 37 3 49362330 49362330 + Silent SNP A A C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:49362330A>C ENST00000351842.4 - 5 638 c.630T>G c.(628-630)ggT>ggG p.G210G USP4_ENST00000415188.1_Silent_p.G210G|USP4_ENST00000265560.4_Silent_p.G210G|USP4_ENST00000416417.1_Silent_p.G210G NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 210 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CTCCTACCTGACCCTGGTATA 0.547000 50 76 0 0 0.000781405 0 0 STAU2 27067 broad.mit.edu 37 8 74464404 74464404 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:74464404G>A ENST00000355780.5 - 12 1495 c.1277C>T c.(1276-1278)tCg>tTg p.S426L STAU2_ENST00000522695.1_Missense_Mutation_p.S426L|STAU2_ENST00000524300.1_Missense_Mutation_p.S458L|STAU2_ENST00000521727.1_Missense_Mutation_p.S438L|STAU2_ENST00000521451.1_Missense_Mutation_p.S238L|STAU2_ENST00000522509.1_Missense_Mutation_p.S426L|STAU2_ENST00000523558.1_Missense_Mutation_p.S286L|STAU2_ENST00000519961.1_Missense_Mutation_p.S458L|STAU2_ENST00000521210.1_Missense_Mutation_p.S354L|STAU2_ENST00000517542.1_Missense_Mutation_p.S420L NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 458 Required for dendritic transport (By similarity). transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TGAACTATTCGATGTGGGAGA 0.443000 42 69 0 0 0.000781405 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99662229 99662229 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:99662229G>A ENST00000292450.4 + 4 1575 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Silent_p.E436E|ZSCAN21_ENST00000456748.2_Silent_p.E436E NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 471 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGGAGAGGGAGAAGCACCGTA 0.468000 24 39 0 0 0.000375601 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229941 140229941 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140229941C>T ENST00000378122.3 + 1 2585 c.1861C>T c.(1861-1863)Ccg>Tcg p.P621S PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P621S|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 NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGAGCATCCCGTTCCGCGT 0.662000 30 25 0 0 0.00058488 0 0 ZNF831 128611 broad.mit.edu 37 20 57766570 57766570 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:57766570C>T ENST00000371030.2 + 1 496 c.496C>T c.(496-498)Cac>Tac p.H166Y NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 166 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CATCCGGTCCCACACGGGTGA 0.617000 39 64 0 0 0.000509022 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886023 88886023 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:88886023G>A ENST00000319675.3 - 1 273 c.177C>T c.(175-177)gtC>gtT p.V59V NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 59 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TATGAATCTGGACCTTTTTCC 0.507000 23 41 0 0 0.00047179 0 0 AKR1C3 8644 broad.mit.edu 37 10 5144346 5144346 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:5144346G>A ENST00000380554.3 + 6 1276 c.624G>A c.(622-624)tcG>tcA p.S208S AKR1C3_ENST00000605149.1_Silent_p.S185S|AKR1C3_ENST00000439082.2_Silent_p.S89S NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 208 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity p.S208S(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TCTGCAAGTCGAAAGATATTG 0.373000 23 39 0 0 0.000878237 0 0 GPR180 160897 broad.mit.edu 37 13 95273347 95273347 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:95273347C>T ENST00000376958.4 + 6 777 c.752C>T c.(751-753)tCc>tTc p.S251F NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 251 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GACATCGCTTCCCAAATTCAG 0.358000 32 45 0 0 0.000814825 0 0 RNF44 22838 broad.mit.edu 37 5 175958548 175958548 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:175958548G>A ENST00000274811.4 - 4 905 c.381C>T c.(379-381)atC>atT p.I127I RNF44_ENST00000537487.1_Silent_p.I46I NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 127 Pro-rich. zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCAGCCAGGGATGTGCTGGC 0.627000 6 9 0 0 0.00116845 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454074 37454074 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:37454074G>A ENST00000374660.1 + 18 1986 c.1887G>A c.(1885-1887)tgG>tgA p.W629* ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.W629*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.W629* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 685 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAAATTCTTGGGATACTGAGG 0.323000 21 34 0 0 0.000295444 0 0 PDPR 55066 broad.mit.edu 37 16 70162962 70162962 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:70162962G>A ENST00000288050.4 + 6 1501 c.544G>A c.(544-546)Gag>Aag p.E182K PDPR_ENST00000398122.3_Missense_Mutation_p.E82K|PDPR_ENST00000568530.1_Missense_Mutation_p.E182K NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 182 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GCATGTTCCCGAGGATGCAGT 0.532000 92 180 0 0 0.000781405 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712962 70712962 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:70712962G>A ENST00000530196.1 - 0 1556 NR_003951.1 ATTCTGGAAGGTCACATTCAT 0.483000 16 15 0 0 0.00074312 0 0 SSPO 23145 broad.mit.edu 37 7 149510776 149510776 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:149510776C>T ENST00000378016.2 + 0 10061 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTACTGAGTTCCAACGGGGCC 0.667000 10 5 0 0 0.000673444 0 0 TLN2 83660 broad.mit.edu 37 15 62993383 62993383 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:62993383G>A ENST00000561311.1 + 16 1896 c.1666G>A c.(1666-1668)Gga>Aga p.G556R TLN2_ENST00000306829.6_Missense_Mutation_p.G556R Q9Y4G6 TLN2_HUMAN talin 2 556 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TATCACGGCCGGAACGGCTTC 0.438000 21 30 0 0 0.00152264 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162472 33162472 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:33162472G>A ENST00000510327.1 - 0 346 TTGGACGTGGGGGAATTTCTC 0.527000 11 5 0 0 0.000673444 0 0 ZNF782 158431 broad.mit.edu 37 9 99580959 99580959 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:99580959G>A ENST00000481138.1 - 6 2007 c.1346C>T c.(1345-1347)cCa>cTa p.P449L ZNF782_ENST00000535338.1_Missense_Mutation_p.P317L NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ACATTCGAATGGTTTCTCCCC 0.413000 52 22 0 0 0.000781405 0 0 GJA3 2700 broad.mit.edu 37 13 20716951 20716951 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:20716951G>A ENST00000241125.3 - 2 653 c.477C>T c.(475-477)ttC>ttT p.F159F NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 159 cell-cell signaling|visual perception connexon complex|integral to membrane p.F159F(1) NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) AGCCCACCTCGAACAGCGTCT 0.652000 17 21 0 0 0.000566183 0 0 COL21A1 81578 broad.mit.edu 37 6 56044666 56044666 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:56044666C>T ENST00000244728.5 - 3 747 c.350G>A c.(349-351)gGg>gAg p.G117E COL21A1_ENST00000370819.1_Missense_Mutation_p.G117E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G117E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 117 VWFA. 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) GATGGCCTTCCCTGTCTTTGT 0.473000 11 25 0 0 0.00136819 0 0 OR2F1 26211 broad.mit.edu 37 7 143657367 143657367 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143657367T>A ENST00000392899.1 + 1 341 c.304T>A c.(304-306)Ttt>Att p.F102I NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AGCCCAGTTATTTTTCTCCCT 0.527000 46 60 0 0 0.000781405 0 0 TACC2 10579 broad.mit.edu 37 10 123971070 123971070 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:123971070C>T ENST00000369005.1 + 9 7470 c.7130C>T c.(7129-7131)tCc>tTc p.S2377F TACC2_ENST00000368999.1_Missense_Mutation_p.S455F|TACC2_ENST00000260733.3_Missense_Mutation_p.S455F|TACC2_ENST00000358010.1_Missense_Mutation_p.S523F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2381F|TACC2_ENST00000513429.1_Missense_Mutation_p.S523F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2377F|TACC2_ENST00000369004.3_Missense_Mutation_p.S455F|TACC2_ENST00000515603.1_Missense_Mutation_p.S2332F|TACC2_ENST00000369001.1_Missense_Mutation_p.S81F|TACC2_ENST00000360561.3_Missense_Mutation_p.S455F|TACC2_ENST00000369000.1_Missense_Mutation_p.S81F|TACC2_ENST00000453444.2_Missense_Mutation_p.S2381F NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2377 SPAZ. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGTGATGAGTCCGTTGACCCC 0.493000 74 84 0 0 0.000781405 0 0 SSFA2 6744 broad.mit.edu 37 2 182765502 182765502 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:182765502G>A ENST00000431877.2 + 7 762 c.583G>A c.(583-585)Gat>Aat p.D195N SSFA2_ENST00000320370.7_Missense_Mutation_p.D195N|SSFA2_ENST00000409001.1_Missense_Mutation_p.D195N|SSFA2_ENST00000428267.2_Missense_Mutation_p.D42N NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 195 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TGATGAACCAGATATTGCTTC 0.343000 20 40 0 0 0.00121646 0 0 MYLK3 91807 broad.mit.edu 37 16 46781899 46781899 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:46781899G>A ENST00000394809.4 - 1 322 c.207C>T c.(205-207)gcC>gcT p.A69A MYLK3_ENST00000536476.1_Intron NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 69 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GTGCCCGGGAGGCCTCCAGCC 0.672000 15 23 0 0 0.000219431 0 0 FGF9 2254 broad.mit.edu 37 13 22275499 22275499 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:22275499C>T ENST00000382353.5 + 3 1082 c.552C>T c.(550-552)ttC>ttT p.F184F FGF9_ENST00000478546.1_3'UTR NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 184 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ACCAGAAATTCACACATTTTT 0.433000 12 29 0 0 0.00136819 0 0 PTPRS 5802 broad.mit.edu 37 19 5212122 5212122 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:5212122G>A ENST00000372412.4 - 32 5145 c.4912C>T c.(4912-4914)Cag>Tag p.Q1638* PTPRS_ENST00000587303.1_Nonsense_Mutation_p.Q1637*|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q1599*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q1637*|PTPRS_ENST00000353284.2_Nonsense_Mutation_p.Q1190*|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q1617*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q1599*|PTPRS_ENST00000592099.1_Nonsense_Mutation_p.Q1190* Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1637 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AAGCTGTACTGGTCCTCCGTC 0.602000 30 29 0 0 0.00111076 0 0 MUC6 4588 broad.mit.edu 37 11 1017853 1017853 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:1017853T>C ENST00000421673.2 - 31 4998 c.4948A>G c.(4948-4950)Aca>Gca p.T1650A NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1650 Approximate repeats.|Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCGTGCCTGTTGGCATTGAG 0.582000 17 500 0 0 0.00127121 0 0 VWA7 80737 broad.mit.edu 37 6 31734488 31734488 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:31734488G>A ENST00000375686.3 - 14 2173 c.1936C>T c.(1936-1938)Cct>Tct p.P646S VWA7_ENST00000447450.1_Missense_Mutation_p.S639F|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P646S NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 646 extracellular region GGATCCCCAGGATTGGCTCTG 0.617000 137 102 0 0 0.000781405 0 0 KIF13B 23303 broad.mit.edu 37 8 29033619 29033619 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:29033619G>A ENST00000524189.1 - 10 949 c.911C>T c.(910-912)cCa>cTa p.P304L KIF13B_ENST00000521515.1_Missense_Mutation_p.P304L NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 304 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) GTCACGATATGGAACAAATTT 0.428000 8 22 0 0 0.000274275 0 0 HYAL4 23553 broad.mit.edu 37 7 123508836 123508836 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:123508836T>C ENST00000223026.4 + 3 1147 c.509T>C c.(508-510)cTt>cCt p.L170P HYAL4_ENST00000476325.1_Missense_Mutation_p.L170P NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 170 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TCAAGAAAGCTTATTTCCGAT 0.403000 32 42 0 0 0.000409698 0 0 HOXB13 10481 broad.mit.edu 37 17 46805734 46805734 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:46805734G>A ENST00000290295.7 - 1 806 c.222C>T c.(220-222)tcC>tcT p.S74S NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 74 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 CGGGAGCTGGGGACGTCCCCT 0.662000 24 62 0 0 0.000586117 0 0 PSD 5662 broad.mit.edu 37 10 104176224 104176224 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:104176224G>A ENST00000020673.5 - 2 1098 c.572C>T c.(571-573)tCt>tTt p.S191F PSD_ENST00000406432.1_Missense_Mutation_p.S191F NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 191 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) ATTGGGGAGAGAGGAGTAAAG 0.657000 11 19 0 0 0.000978159 0 0 FSIP1 161835 broad.mit.edu 37 15 40068663 40068663 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:40068663G>A ENST00000350221.3 - 2 272 c.63C>T c.(61-63)cgC>cgT p.R21R RP11-37C7.1_ENST00000558616.1_RNA NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 21 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TGCTCCCAGGGCGTATTCTTG 0.353000 39 63 0 0 0.000437636 0 0 GJA1 2697 broad.mit.edu 37 6 121768668 121768668 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:121768668C>T ENST00000282561.3 + 2 832 c.675C>T c.(673-675)atC>atT p.I225I NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 225 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity p.I225I(1) autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CCTTGAATATCATTGAACTCT 0.522000 54 28 0 0 0.000781405 0 0 SSFA2 6744 broad.mit.edu 37 2 182780654 182780654 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:182780654G>A ENST00000431877.2 + 11 2466 c.2287G>A c.(2287-2289)Gag>Aag p.E763K SSFA2_ENST00000320370.7_Missense_Mutation_p.E763K|SSFA2_ENST00000409136.1_Missense_Mutation_p.E272K|SSFA2_ENST00000409001.1_Missense_Mutation_p.E763K|SSFA2_ENST00000428267.2_Missense_Mutation_p.E610K NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 763 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCAGGAAAAGAGACCAGATG 0.468000 23 37 0 0 0.00047179 0 0 KANSL1L 151050 broad.mit.edu 37 2 210968836 210968836 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:210968836C>T ENST00000281772.9 - 4 1683 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K KANSL1L_ENST00000452086.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000457374.1_Missense_Mutation_p.E474K|KANSL1L_ENST00000418791.1_Missense_Mutation_p.E474K NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 474 ACCTGTTTTTCGATGTTTCGA 0.368000 18 28 0 0 0.00152264 0 0 DNAH2 146754 broad.mit.edu 37 17 7679359 7679359 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7679359G>A ENST00000572933.1 + 31 6299 c.4839G>A c.(4837-4839)gtG>gtA p.V1613V DNAH2_ENST00000389173.2_Silent_p.V1613V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1613 Stem (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) TTGGCGATGTGGAACAGACCA 0.617000 23 36 0 0 0.00127121 0 0 SSTR1 6751 broad.mit.edu 37 14 38679115 38679115 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:38679115C>T ENST00000267377.2 + 3 1138 c.521C>T c.(520-522)gCc>gTc p.A174V NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 174 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CCCACCGTGGCCAAGGTAGTA 0.642000 20 21 0 0 0.00152264 0 0 DDX52 11056 broad.mit.edu 37 17 36002295 36002295 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:36002295G>A ENST00000349699.2 - 2 173 c.130C>T c.(130-132)Cag>Tag p.Q44* DDX52_ENST00000394367.3_5'UTR NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 44 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) TCCAGTCCCTGAAGCACCTCC 0.393000 14 35 0 0 0.00185496 0 0 LPHN2 23266 broad.mit.edu 37 1 82431791 82431791 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:82431791A>T ENST00000370728.1 + 14 2700 c.2055A>T c.(2053-2055)aaA>aaT p.K685N LPHN2_ENST00000370717.2_Missense_Mutation_p.K685N|LPHN2_ENST00000319517.6_Missense_Mutation_p.K672N|LPHN2_ENST00000370725.1_Missense_Mutation_p.K685N|LPHN2_ENST00000335786.5_Missense_Mutation_p.K685N|LPHN2_ENST00000271029.4_Missense_Mutation_p.K685N|LPHN2_ENST00000359929.3_Missense_Mutation_p.K672N|LPHN2_ENST00000370715.1_Missense_Mutation_p.K672N|LPHN2_ENST00000370721.1_Missense_Mutation_p.K610N|LPHN2_ENST00000370723.1_Missense_Mutation_p.K672N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.K672N|LPHN2_ENST00000370727.1_Missense_Mutation_p.K685N|LPHN2_ENST00000370730.1_Missense_Mutation_p.K685N|LPHN2_ENST00000370713.1_Missense_Mutation_p.K672N O95490 LPHN2_HUMAN latrophilin 2 685 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AAGACTTTAAATTTCCTCTGG 0.438000 22 34 0 0 0.00152264 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247269 142247269 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142247269C>T ENST00000390361.3 - 0 236 ATTAGAAACTCTGGGCCCTGC 0.527000 31 22 0 0 0.000339439 0 0 PLCB4 5332 broad.mit.edu 37 20 9404511 9404511 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:9404511C>T ENST00000378501.2 + 24 2415 c.2400C>T c.(2398-2400)tcC>tcT p.S800S PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.S800S|PLCB4_ENST00000378473.3_Silent_p.S812S|PLCB4_ENST00000414679.2_Silent_p.S812S|PLCB4_ENST00000334005.3_Silent_p.S800S|PLCB4_ENST00000378493.1_Silent_p.S800S NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 800 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GACACATTTCCCTTCGAAATG 0.413000 11 7 0 0 0.000673444 0 0 FAM3D 131177 broad.mit.edu 37 3 58631246 58631246 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:58631246C>T ENST00000358781.2 - 5 563 c.253G>A c.(253-255)Gaa>Aaa p.E85K NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 85 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) ATGCGGTCTTCAAAGCACATA 0.428000 12 12 0 0 0.000978159 0 0 PTPRS 5802 broad.mit.edu 37 19 5245958 5245958 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:5245958T>C ENST00000372412.4 - 10 1053 c.820A>G c.(820-822)Atg>Gtg p.M274V PTPRS_ENST00000348075.2_Missense_Mutation_p.M260V|PTPRS_ENST00000357368.4_Missense_Mutation_p.M273V|PTPRS_ENST00000353284.2_Missense_Mutation_p.M260V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.M269V|PTPRS_ENST00000587303.1_Missense_Mutation_p.M273V|PTPRS_ENST00000588012.1_Missense_Mutation_p.M260V|PTPRS_ENST00000592099.1_Missense_Mutation_p.M260V Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 273 Ig-like C2-type 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) ACGTATGGCATGGGCGAGCCC 0.647000 5 7 0 0 0.00116845 0 0 ZMYM4 9202 broad.mit.edu 37 1 35881161 35881161 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:35881161C>T ENST00000314607.6 + 28 4235 c.4155C>T c.(4153-4155)ttC>ttT p.F1385F ZMYM4_ENST00000373297.2_Silent_p.F1296F NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1385 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCCTCCTTTTCTTCAATACCA 0.448000 22 44 0 0 0.000375601 0 0 OR5D13 390142 broad.mit.edu 37 11 55541558 55541558 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55541558C>T ENST00000361760.1 + 1 645 c.645C>T c.(643-645)atC>atT p.I215I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GCCTAATTATCATTCTGACAT 0.438000 8 19 0 0 0.000442599 0 0 PCLO 27445 broad.mit.edu 37 7 82579434 82579434 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:82579434C>T ENST00000423517.2 - 6 10807 c.10470G>A c.(10468-10470)agG>agA p.R3490R PCLO_ENST00000333891.8_Silent_p.R3490R|PCLO_ENST00000437081.1_Silent_p.R210R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3421 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CACGAGCTTTCCTCCTTGATC 0.458000 17 26 0 0 0.00121646 0 0 PIGR 5284 broad.mit.edu 37 1 207105032 207105032 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:207105032G>A ENST00000356495.4 - 9 2307 c.2124C>T c.(2122-2124)tcC>tcT p.S708S PIGR_ENST00000487208.1_5'UTR NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 708 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TTCCTCCGAGGGATGTCTCCT 0.507000 59 46 0 0 0.000781405 0 0 RP1L1 94137 broad.mit.edu 37 8 10466595 10466595 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:10466595G>A ENST00000382483.3 - 4 5236 c.5013C>T c.(5011-5013)tcC>tcT p.S1671S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1671 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGGCCTTGGGGGACATAGGGC 0.627000 23 37 0 0 0.000586117 0 0 LRMP 4033 broad.mit.edu 37 12 25232684 25232684 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:25232684G>A ENST00000354454.3 + 8 1060 c.231G>A c.(229-231)acG>acA p.T77T LRMP_ENST00000548766.1_Silent_p.T77T|LRMP_ENST00000547044.1_Silent_p.T77T NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 133 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) CTTCTCCCACGATAGAGGCCC 0.403000 30 8 0 0 0.00106085 0 0 PSG4 5672 broad.mit.edu 37 19 43699279 43699279 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43699279C>T ENST00000405312.3 - 4 1093 c.856G>A c.(856-858)Gta>Ata p.V286I PSG4_ENST00000433626.2_Missense_Mutation_p.V193I|PSG4_ENST00000244295.9_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 286 Ig-like C2-type 2. V -> A (in dbSNP:rs2355442). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGTCGCTTTACCCTGGGACTG 0.448000 85 121 0 0 0.000781405 0 0 PLCL2 23228 broad.mit.edu 37 3 17109548 17109548 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:17109548C>T ENST00000418129.2 + 5 3282 c.2817C>T c.(2815-2817)acC>acT p.T939T PLCL2_ENST00000432376.1_Silent_p.T939T|PLCL2_ENST00000396755.2_Silent_p.T939T NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1065 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGAATATTACCATCTTAAAGG 0.403000 17 49 0 0 0.000958276 0 0 NPY4R 5540 broad.mit.edu 37 10 47087533 47087533 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:47087533G>A ENST00000374312.1 + 3 1169 c.750G>A c.(748-750)aaG>aaA p.K250K NPY4R_ENST00000395716.1_Silent_p.K250K NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TGTTTCACAAGGGCACCTACA 0.597000 14 102 0 0 0.000219431 0 0 TMEM66 51669 broad.mit.edu 37 8 29931525 29931525 + Silent SNP G G A rs80342246 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:29931525G>A ENST00000256255.6 - 2 407 c.150C>T c.(148-150)gaC>gaT p.D50D TMEM66_ENST00000521083.1_5'UTR|TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_Intron NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 50 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) TGGTATAGCGGTCATAGTGGA 0.468000 30 56 0 0 0.001512 0 0 NRXN1 9378 broad.mit.edu 37 2 50850507 50850507 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:50850507C>T ENST00000404971.1 - 7 2517 c.1178G>A c.(1177-1179)gGa>gAa p.G393E NRXN1_ENST00000402717.3_Missense_Mutation_p.G360E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G360E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.G360E|NRXN1_ENST00000405472.3_Missense_Mutation_p.G360E|NRXN1_ENST00000401669.2_Missense_Mutation_p.G360E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 360 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATTAAACTTTCCATTCACAGG 0.458000 6 11 0 0 0.00116845 0 0 CAMKV 79012 broad.mit.edu 37 3 49898401 49898401 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:49898401C>T ENST00000477224.1 - 7 1091 c.613G>A c.(613-615)Gcc>Acc p.A205T CAMKV_ENST00000296471.7_Intron|CAMKV_ENST00000467248.1_Missense_Mutation_p.A130T|CAMKV_ENST00000466940.1_Missense_Mutation_p.A162T|CAMKV_ENST00000488336.1_Missense_Mutation_p.A205T|CAMKV_ENST00000463537.1_Missense_Mutation_p.A205T Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 205 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ACTCCAATGGCCCAGCAGTCC 0.592000 22 23 0 0 0.000878237 0 0 LDHD 197257 broad.mit.edu 37 16 75148832 75148832 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:75148832C>T ENST00000300051.4 - 4 408 c.362G>A c.(361-363)cGa>cAa p.R121Q LDHD_ENST00000450168.2_Missense_Mutation_p.R121Q NM_153486.3 NP_705690.2 Q86WU2 LDHD_HUMAN lactate dehydrogenase D 121 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 CTCCAGGATTCGGTCCATATG 0.632000 19 37 0 0 0.00152264 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480236 140480236 + Translation_Start_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140480236G>A ENST00000231130.2 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 1 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAGTGCAATGGAGGCGGGAG 0.527000 25 42 0 0 0.00127121 0 0 TPTE2 93492 broad.mit.edu 37 13 20048054 20048054 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:20048054C>T ENST00000400230.2 - 6 436 c.392_splice c.e6+1 p.G131_splice TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000255310.6_Splice_Site_p.G94_splice|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.G131_splice|TPTE2_ENST00000390680.2_Splice_Site_p.G94_splice|TPTE2_ENST00000382975.4_Splice_Site_p.G131_splice|TPTE2_ENST00000382978.1_Splice_Site_p.G131_splice Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 131 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TCAAACTTACCCTTCTACAAA 0.363000 12 21 0 0 0.00136819 0 0 IFT172 26160 broad.mit.edu 37 2 27676565 27676565 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27676565G>T ENST00000260570.3 - 34 3856 c.3753C>A c.(3751-3753)gaC>gaA p.D1251E NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1251 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TGGGCACATAGTCCTTGCAGA 0.577000 26 37 1.68575e-08 1.07214e-07 0.00127121 1 0 MCM6 4175 broad.mit.edu 37 2 136614338 136614338 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:136614338C>T ENST00000264156.2 - 11 1646 c.1586G>A c.(1585-1587)cGa>cAa p.R529Q MCM6_ENST00000492091.1_Intron NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 529 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) GAGATCGAATCGGGACATGAT 0.423000 28 35 0 0 0.000878237 0 0 CATSPERG 57828 broad.mit.edu 37 19 38850215 38850215 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38850215G>A ENST00000409235.3 + 14 1717 c.1602G>A c.(1600-1602)acG>acA p.T534T CATSPERG_ENST00000410018.1_Silent_p.T494T|CATSPERG_ENST00000215069.4_Intron NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 534 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TCACAGAGACGGAGGAGGTGG 0.597000 12 17 0 0 0.000978159 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168930 142168930 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142168930C>T ENST00000454561.2 - 0 115 CCTTGATTTTCCTAATAGGAG 0.572000 6 4 0 0 0.00116845 0 0 NOTCH4 4855 broad.mit.edu 37 6 32170241 32170241 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:32170241G>A ENST00000375023.3 - 21 3505 c.3367C>T c.(3367-3369)Cct>Tct p.P1123S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1123 EGF-like 28. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGGCAGTCAGGACCCCCATAG 0.652000 121 255 0 0 0.000781405 0 0 TP63 8626 broad.mit.edu 37 3 189526244 189526244 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:189526244G>A ENST00000264731.3 + 4 597 c.508G>A c.(508-510)Gac>Aac p.D170N TP63_ENST00000437221.1_Missense_Mutation_p.D76N|TP63_ENST00000320472.5_Missense_Mutation_p.D170N|TP63_ENST00000392460.3_Missense_Mutation_p.D170N|TP63_ENST00000354600.5_Missense_Mutation_p.D76N|TP63_ENST00000392463.2_Missense_Mutation_p.D76N|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Missense_Mutation_p.D76N|TP63_ENST00000456148.1_Missense_Mutation_p.D76N|TP63_ENST00000418709.2_Missense_Mutation_p.D170N|TP63_ENST00000440651.2_Missense_Mutation_p.D170N|TP63_ENST00000382063.4_Intron NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 170 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CTCCAACACCGACTACCCAGG 0.647000 HNSCC(45;0.13) 17 19 0 0 0.000422831 0 0 AFF2 2334 broad.mit.edu 37 X 147743491 147743491 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:147743491G>A ENST00000370460.2 + 3 722 c.243G>A c.(241-243)atG>atA p.M81I AFF2_ENST00000342251.3_Missense_Mutation_p.M77I|AFF2_ENST00000370458.1_Missense_Mutation_p.M77I|AFF2_ENST00000370457.5_Missense_Mutation_p.M77I NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 81 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ATGATGAAATGAAGAATTTGC 0.403000 75 13 0 0 0.000781405 0 0 CASR 846 broad.mit.edu 37 3 122002653 122002653 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:122002653C>T ENST00000498619.1 + 7 2320 c.1882C>T c.(1882-1884)Ctc>Ttc p.L628F CASR_ENST00000296154.5_Missense_Mutation_p.L618F|CASR_ENST00000490131.1_Missense_Mutation_p.L618F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 618 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CGCACTCACCCTCTTTGCCGT 0.547000 25 43 0 0 0.000375601 0 0 CPB1 1360 broad.mit.edu 37 3 148577634 148577634 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:148577634T>G ENST00000491148.1 + 12 1433 c.1099T>G c.(1099-1101)Tat>Gat p.Y367D RP11-680B3.2_ENST00000488190.1_RNA|CPB1_ENST00000282957.4_Missense_Mutation_p.Y367D|CPB1_ENST00000498639.1_3'UTR P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 367 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CGACTGGGCTTATGACCAAGG 0.453000 41 54 0 0 0.000437636 0 0 PREX2 80243 broad.mit.edu 37 8 68992720 68992720 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:68992720G>T ENST00000288368.4 + 16 1962 c.1685G>T c.(1684-1686)cGt>cTt p.R562L PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 562 DEP 2. 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 CTACTTTTCCGTTTTTTTTCG 0.328000 16 40 1.15919e-05 7.33015e-05 0.00121646 1 0 ITGB3 3690 broad.mit.edu 37 17 45369600 45369600 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:45369600C>T ENST00000560629.1 + 10 1321 c.1321C>T c.(1321-1323)Cgt>Tgt p.R441C ITGB3_ENST00000559488.1_Silent_p.I452I|ITGB3_ENST00000435993.2_Silent_p.I405I P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) ACAGCCTGATCGTCCAGGTCA 0.547000 25 35 0 0 0.00047179 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125282009 125282009 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:125282009G>A ENST00000431078.1 + 9 1818 c.1454G>A c.(1453-1455)gGa>gAa p.G485E NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 485 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ATTTATTCTGGAAATAGCTAC 0.453000 4 4 0 0 0.00024832 0 0 TNFSF11 8600 broad.mit.edu 37 13 43180868 43180868 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:43180868G>A ENST00000398795.2 + 5 917 c.549G>A c.(547-549)atG>atA p.M183I TNFSF11_ENST00000544862.1_Missense_Mutation_p.M183I|TNFSF11_ENST00000358545.2_Missense_Mutation_p.M183I|TNFSF11_ENST00000239849.6_Missense_Mutation_p.M256I|TNFSF11_ENST00000405262.2_Missense_Mutation_p.M183I NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 256 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) ATACCCTGATGAAAGGAGGAA 0.398000 28 48 0 0 0.00127121 0 0 CADM3 57863 broad.mit.edu 37 1 159169596 159169596 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:159169596C>T ENST00000368125.4 + 8 1165 c.1008C>T c.(1006-1008)atC>atT p.I336I CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.I370I NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 336 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.I370I(3) 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) TCGGTGGGATCGTGGCTTTCA 0.557000 27 53 0 0 0.00178596 0 0 CSMD3 114788 broad.mit.edu 37 8 113275990 113275990 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:113275990G>T ENST00000297405.5 - 61 9984 c.9740C>A c.(9739-9741)aCa>aAa p.T3247K CSMD3_ENST00000455883.2_Missense_Mutation_p.T3078K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3177K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3207K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3247 Sushi 25. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTCGAAATTTGTTCCTTCCAG 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 9 1.52009e-12 9.74517e-12 0.000308642 1 0 DYTN 391475 broad.mit.edu 37 2 207564565 207564565 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:207564565G>A ENST00000452335.2 - 7 721 c.605C>T c.(604-606)tCt>tTt p.S202F DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 202 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GGGAGGCTCAGATTGGACCCA 0.502000 12 16 0 0 0.00136819 0 0 OR10H5 284433 broad.mit.edu 37 19 15905710 15905710 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15905710C>T ENST00000308940.8 + 1 950 c.852C>T c.(850-852)ccC>ccT p.P284P NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCCTCACACCCTTCCTCAGCC 0.527000 11 14 0 0 0.000308642 0 0 ZNF667 63934 broad.mit.edu 37 19 56952992 56952992 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:56952992G>A ENST00000504904.3 - 7 2091 c.1372C>T c.(1372-1374)Ctt>Ttt p.L458F ZNF667_ENST00000342634.3_Missense_Mutation_p.L586F|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.L458F Q5HYK9 ZN667_HUMAN zinc finger protein 667 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TGTTCAATAAGAAATGATTGG 0.373000 22 31 0 0 0.000586117 0 0 DLL4 54567 broad.mit.edu 37 15 41224428 41224428 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:41224428C>T ENST00000249749.5 + 5 994 c.719_splice c.e5+1 p.L240_splice NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 240 EGF-like 1. blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGCAGAGTGCCTGTGAGTAGG 0.582000 25 38 0 0 0.000375601 0 0 CDH16 1014 broad.mit.edu 37 16 66947151 66947151 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:66947151C>T ENST00000299752.4 - 9 1130 c.937G>A c.(937-939)Ggc>Agc p.G313S CDH16_ENST00000570262.1_Missense_Mutation_p.G233S|CDH16_ENST00000565796.1_Missense_Mutation_p.G313S|CDH16_ENST00000394055.3_Missense_Mutation_p.G313S|CDH16_ENST00000568632.1_Missense_Mutation_p.G216S NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 313 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TAGTCCTCGCCATGGGAATTC 0.627000 28 45 0 0 0.001512 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183590 11183590 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:11183590G>A ENST00000390675.2 - 1 416 c.345C>T c.(343-345)aaC>aaT p.N115N PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 115 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GAAAAATAAGGTTGGAGAAAT 0.398000 62 67 0 0 0.000781405 0 0 PCED1B 91523 broad.mit.edu 37 12 47629825 47629825 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:47629825C>T ENST00000546455.1 + 4 1710 c.979C>T c.(979-981)Cac>Tac p.H327Y PCED1B_ENST00000432328.1_Missense_Mutation_p.H327Y PC-esterase domain containing 1B cATTCTCCATCACCAGGGAAT 0.597000 70 14 0 0 0.000781405 0 0 OR51M1 390059 broad.mit.edu 37 11 5411135 5411135 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:5411135C>T ENST00000328611.3 + 1 529 c.507C>T c.(505-507)atC>atT p.I169I HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 169 integral to membrane olfactory receptor activity p.I169>?(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCCACTATCCCTATTGTCC 0.547000 136 24 0 0 0.000781405 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586583 15586583 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15586583G>A ENST00000292609.4 - 2 1027 c.898C>T c.(898-900)Ctg>Ttg p.L300L PGLYRP2_ENST00000340880.4_Silent_p.L300L Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 300 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 TACTGGCTCAGCAAGTGGCTG 0.622000 19 18 0 0 0.00074312 0 0 SOGA1 140710 broad.mit.edu 37 20 35444327 35444327 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:35444327C>T ENST00000237536.4 - 5 1859 c.1518G>A c.(1516-1518)ggG>ggA p.G506G SOGA1_ENST00000357779.3_Silent_p.G268G|SOGA1_ENST00000279034.5_Silent_p.G268G|SOGA1_ENST00000456801.2_Silent_p.G109G NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 268 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCAAGCTCTCCCCGCACTCTC 0.667000 7 7 0 0 8.12818e-05 0 0 MSL3P1 151507 broad.mit.edu 37 2 234775390 234775390 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:234775390G>A ENST00000438684.1 - 0 724 NR_024322.1 CGGCCTGGATGGATTCAACAA 0.522000 8 7 0 0 0.000157383 0 0 DIDO1 11083 broad.mit.edu 37 20 61528167 61528167 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:61528167G>A ENST00000266070.4 - 7 2095 c.1770C>T c.(1768-1770)ttC>ttT p.F590F DIDO1_ENST00000395343.1_Silent_p.F590F|DIDO1_ENST00000395340.1_Silent_p.F590F|DIDO1_ENST00000395335.2_Silent_p.F590F NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 590 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGGTGCCCTTGAAACCTGAGG 0.597000 45 50 0 0 0.000781405 0 0 THBS1 7057 broad.mit.edu 37 15 39874510 39874510 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:39874510G>A ENST00000260356.5 + 3 349 c.184G>A c.(184-186)Gag>Aag p.E62K NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 62 Heparin-binding.|TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TTTCCGCATCGAGGATGCCAA 0.617000 13 29 0 0 0.00185496 0 0 NPC1L1 29881 broad.mit.edu 37 7 44576027 44576027 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:44576027C>T ENST00000289547.4 - 4 1737 c.1681_splice c.e4-1 p.G561_splice NPC1L1_ENST00000546276.1_Splice_Site_p.G561_splice|NPC1L1_ENST00000381160.3_Splice_Site_p.G561_splice|NPC1L1_ENST00000423141.1_Splice_Site_p.G561_splice NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 561 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ATAGTCCTTTCCTGGGATAAG 0.602000 36 37 0 0 0.00111076 0 0 ABCA6 23460 broad.mit.edu 37 17 67096943 67096943 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:67096943G>A ENST00000284425.2 - 22 3181 c.3007C>T c.(3007-3009)Cct>Tct p.P1003S NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1003 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTTACAAGAGGAAATGGGCTT 0.318000 27 12 0 0 0.001512 0 0 DCHS2 54798 broad.mit.edu 37 4 155312327 155312327 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:155312327C>T ENST00000357232.3 - 1 122 c.123G>A c.(121-123)gtG>gtA p.V41V DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 41 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCTGAGATTTCACAATGGAAT 0.323000 4 20 0 0 0.00024832 0 0 LTBP2 4053 broad.mit.edu 37 14 74969359 74969359 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:74969359G>A ENST00000261978.4 - 34 5553 c.5167C>T c.(5167-5169)Cca>Tca p.P1723S LTBP2_ENST00000556690.1_Missense_Mutation_p.P1679S NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1723 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CACAGACCTGGATGGCTGGCC 0.582000 21 41 0 0 0.00152264 0 0 LRRC48 83450 broad.mit.edu 37 17 17881042 17881042 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:17881042G>A ENST00000313838.8 + 4 509 c.130G>A c.(130-132)Gat>Aat p.D44N LRRC48_ENST00000411504.2_Missense_Mutation_p.D44N|LRRC48_ENST00000584166.1_Missense_Mutation_p.D44N|LRRC48_ENST00000399182.1_Missense_Mutation_p.D44N|LRRC48_ENST00000399187.1_Missense_Mutation_p.D44N NM_001130090.1 NP_001123562.1 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 44 cytoplasm breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) CCTCTTCAAGGATGTCCTGTC 0.627000 13 19 0 0 0.00185496 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7527156 7527156 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:7527156C>T ENST00000593531.1 + 14 1880 c.1880C>T c.(1879-1881)tCc>tTc p.S627F ARHGEF18_ENST00000359920.6_Silent_p.F669F|ARHGEF18_ENST00000319670.9_Silent_p.F511F GAGGCCTATTCCGTGGAGGGG 0.607000 17 25 0 0 0.00152264 0 0 TRPM2 7226 broad.mit.edu 37 21 45846545 45846545 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:45846545G>A ENST00000397928.1 + 26 4243 c.3798G>A c.(3796-3798)acG>acA p.T1266T TRPM2_ENST00000300482.5_Silent_p.T1266T|TRPM2_ENST00000397932.2_Silent_p.T1316T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.T1246T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1266 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 TGCGACAGACGGAGTTCCTGA 0.587000 29 53 0 0 0.00111076 0 0 OR10S1 219873 broad.mit.edu 37 11 123847640 123847640 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:123847640G>A ENST00000531945.1 - 1 848 c.759C>T c.(757-759)tcC>tcT p.S253S NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) CAGTGCAGGGGGAGAAGGCCC 0.632000 30 9 0 0 0.000339439 0 0 OR2W3 343171 broad.mit.edu 37 1 248059530 248059530 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248059530C>T ENST00000537741.1 + 3 899 c.642C>T c.(640-642)atC>atT p.I214I OR2W3_ENST00000360358.3_Silent_p.I214I Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGTGTTTATCCTGCTCTCTT 0.587000 97 75 0 0 0.000781405 0 0 FBF1 85302 broad.mit.edu 37 17 73924191 73924191 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73924191C>T ENST00000586717.1 - 7 594 c.321G>A c.(319-321)ggG>ggA p.G107G FBF1_ENST00000319129.5_Silent_p.G107G|FBF1_ENST00000389570.4_Silent_p.G107G A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 107 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GCTCTCCTTTCCCAGGGTCCT 0.542000 45 29 0 0 0.000781405 0 0 PARP8 79668 broad.mit.edu 37 5 50090706 50090706 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:50090706C>T ENST00000281631.5 + 12 1041 c.883C>T c.(883-885)Cct>Tct p.P295S PARP8_ENST00000514342.2_Missense_Mutation_p.P48S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.P295S|PARP8_ENST00000514067.2_Missense_Mutation_p.P295S|PARP8_ENST00000503750.2_Missense_Mutation_p.P295S|PARP8_ENST00000505554.1_Missense_Mutation_p.P274S NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 295 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TTATCCTCCCCCTGGTTGTGG 0.463000 11 25 0 0 0.000978159 0 0 OR1B1 347169 broad.mit.edu 37 9 125391741 125391741 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:125391741G>A ENST00000304833.3 - 1 111 c.74C>T c.(73-75)tCc>tTc p.S25F RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 GAGAGTGTAGGAGATGTTAGC 0.512000 17 6 0 0 0.00074312 0 0 EGF 1950 broad.mit.edu 37 4 110880567 110880567 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:110880567T>A ENST00000265171.5 + 6 1485 c.1040T>A c.(1039-1041)cTa>cAa p.L347Q EGF_ENST00000503392.1_Missense_Mutation_p.L347Q|EGF_ENST00000509793.1_Intron NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 347 EGF-like 1. 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) GGATACGCCCTAAGTCGAGAC 0.512000 11 12 0 0 0.00136819 0 0 RFX6 222546 broad.mit.edu 37 6 117248462 117248462 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:117248462C>T ENST00000332958.2 + 17 2174 c.2158C>T c.(2158-2160)Cat>Tat p.H720Y NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 720 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 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 ACTCTATCCTCATCACACCGA 0.527000 12 4 0 0 0.000978159 0 0 ZNF174 7727 broad.mit.edu 37 16 3454685 3454685 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:3454685C>T ENST00000572544.1 + 2 693 c.662C>T c.(661-663)cCt>cTt p.P221L LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Intron|ZNF174_ENST00000571936.1_Intron|ZNF174_ENST00000268655.4_Intron|ZNF174_ENST00000344823.5_Intron Q15697 ZN174_HUMAN zinc finger protein 174 0 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 CTCATCAGCCCTTTATCTCCA 0.418000 15 11 0 0 0.000219431 0 0 PRUNE 58497 broad.mit.edu 37 1 151006312 151006312 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:151006312C>T ENST00000271620.3 + 8 1120 c.964C>T c.(964-966)Cca>Tca p.P322S PRUNE_ENST00000271619.8_Missense_Mutation_p.P110S|PRUNE_ENST00000368934.1_Missense_Mutation_p.P87S|PRUNE_ENST00000368936.1_Missense_Mutation_p.P140S|PRUNE_ENST00000368937.1_Missense_Mutation_p.P87S|PRUNE_ENST00000368935.1_Missense_Mutation_p.P37S NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 322 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTCCCACTCTCCACCCCTGAA 0.512000 42 131 0 0 0.000680045 0 0 TRDN 10345 broad.mit.edu 37 6 123673700 123673700 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:123673700G>A ENST00000334268.4 - 21 1670 c.1353C>T c.(1351-1353)acC>acT p.T451T TRDN_ENST00000398178.3_Silent_p.T451T Q13061 TRDN_HUMAN triadin 451 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) CCACTGTCTTGGTTGTTTTCT 0.398000 6 0 0 0 0.000157383 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433576 69433576 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:69433576C>T ENST00000317746.2 - 1 669 c.627G>A c.(625-627)atG>atA p.M209I NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 209 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 TTATCCTCTCCATGAAAATCA 0.353000 33 3 0 0 0.000409698 0 0 KRT31 3881 broad.mit.edu 37 17 39552765 39552765 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39552765G>A ENST00000251645.2 - 3 547 c.495C>T c.(493-495)atC>atT p.I165I NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 165 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GCTCATCCAGGATCCTGCGCA 0.607000 23 26 0 0 0.00047179 0 0 CSMD1 64478 broad.mit.edu 37 8 3165304 3165304 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:3165304C>T ENST00000520002.1 - 26 4421 c.3866G>A c.(3865-3867)cGa>cAa p.R1289Q CSMD1_ENST00000537824.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1289Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1289Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1288Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1289Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1289 CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGACAATATTCGTCCTGATGT 0.478000 30 45 0 0 0.00127121 0 0 PRB4 5545 broad.mit.edu 37 12 11461597 11461597 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:11461597C>T ENST00000279575.1 - 3 353 c.320G>A c.(319-321)gGa>gAa p.G107E PRB4_ENST00000445719.2_Missense_Mutation_p.G107E|PRB4_ENST00000535904.1_Missense_Mutation_p.G107E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 149 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGACTGGTTTCCTCCTTGTGG 0.612000 HNSCC(22;0.051) 97 65 0 0 0.000781405 0 0 POLD1 5424 broad.mit.edu 37 19 50909675 50909675 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:50909675G>A ENST00000440232.2 + 12 1448 c.1395G>A c.(1393-1395)cgG>cgA p.R465R POLD1_ENST00000595904.1_Silent_p.R465R|POLD1_ENST00000599857.1_Silent_p.R465R NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 465 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TGCTGCTGCGGGAGTACAAGC 0.652000 DNA polymerases (catalytic subunits) 6 5 0 0 0.00116845 0 0 GPR98 84059 broad.mit.edu 37 5 89943320 89943320 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:89943320C>T ENST00000405460.2 + 17 3124 c.3028C>T c.(3028-3030)Cgt>Tgt p.R1010C NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1010 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) TTCAGAACCTCGTGTAGTGAG 0.438000 14 23 0 0 0.000308642 0 0 LIPG 9388 broad.mit.edu 37 18 47107876 47107876 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:47107876C>T ENST00000261292.4 + 6 1163 c.885C>T c.(883-885)ttC>ttT p.F295F LIPG_ENST00000577628.1_Silent_p.F331F|LIPG_ENST00000580036.1_Silent_p.F295F|LIPG_ENST00000427224.2_Silent_p.F221F NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 295 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GTTTTGCCTTCCAGTGCACTG 0.498000 55 77 0 0 0.000781405 0 0 UBXN8 7993 broad.mit.edu 37 8 30623851 30623851 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:30623851G>A ENST00000519246.1 + 0 952 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 GTCGCTGGAGGACATAGGAAT 0.507000 13 17 0 0 0.00185496 0 0 MUC16 94025 broad.mit.edu 37 19 9088960 9088960 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9088960T>C ENST00000397910.4 - 1 3058 c.2855A>G c.(2854-2856)aAt>aGt p.N952S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 952 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 CGTGTCTCTATTGGTCTGTGA 0.478000 35 57 0 0 0.000953801 0 0 GPM6A 2823 broad.mit.edu 37 4 176572994 176572994 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:176572994G>A ENST00000280187.7 - 5 577 c.532C>T c.(532-534)Cgt>Tgt p.R178C GPM6A_ENST00000506894.1_Missense_Mutation_p.R167C|GPM6A_ENST00000393658.2_Missense_Mutation_p.R178C|GPM6A_ENST00000515090.1_Missense_Mutation_p.R171C NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 178 cell surface|integral to membrane p.R178C(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CCAAACTGACGAAGGTCCAAG 0.433000 25 30 0 0 0.00178596 0 0 MECOM 2122 broad.mit.edu 37 3 168833494 168833494 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:168833494C>T ENST00000464456.1 - 7 2802 c.1602G>A c.(1600-1602)atG>atA p.M534I MECOM_ENST00000472280.1_Missense_Mutation_p.M535I|MECOM_ENST00000460814.1_Missense_Mutation_p.M534I|MECOM_ENST00000494292.1_Missense_Mutation_p.M722I|MECOM_ENST00000392736.3_Missense_Mutation_p.M534I|MECOM_ENST00000264674.3_Missense_Mutation_p.M599I|MECOM_ENST00000468789.1_Missense_Mutation_p.M534I|MECOM_ENST00000433243.2_Missense_Mutation_p.M535I 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 ATTGGGGTTCCATTTTCAAAG 0.458000 8 18 0 0 0.000157383 0 0 WDR17 116966 broad.mit.edu 37 4 177041242 177041242 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:177041242C>T ENST00000393643.2 + 4 784 c.532C>T c.(532-534)Cat>Tat p.H178Y WDR17_ENST00000280190.4_Missense_Mutation_p.H202Y|WDR17_ENST00000507824.2_Missense_Mutation_p.H202Y|WDR17_ENST00000508596.1_Missense_Mutation_p.H178Y NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 202 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATCAATTTTTCATCCAGGTAA 0.338000 32 67 0 0 0.000409698 0 0 ALPL 249 broad.mit.edu 37 1 21889735 21889735 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:21889735G>A ENST00000374840.3 + 5 680 c.430G>A c.(430-432)Ggg>Agg p.G144R ALPL_ENST00000374832.1_Missense_Mutation_p.G144R|ALPL_ENST00000540617.1_Missense_Mutation_p.G89R|ALPL_ENST00000539907.1_Missense_Mutation_p.G67R|ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.G144R NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney 144 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) CACCACCCAGGGGAACGAGGT 0.682000 14 19 0 0 0.000308642 0 0 LRRC49 54839 broad.mit.edu 37 15 71211510 71211510 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:71211510G>A ENST00000260382.5 + 7 949 c.689G>A c.(688-690)cGa>cAa p.R230Q LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.R220Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.R186Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.R235Q|LRRC49_ENST00000436542.2_3'UTR NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 230 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 CTTAACTTGCGACACAATCAA 0.333000 37 59 0 0 0.000509022 0 0 PCNT 5116 broad.mit.edu 37 21 47783490 47783490 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:47783490G>A ENST00000359568.5 + 14 2357 c.2250G>A c.(2248-2250)acG>acA p.T750T PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 750 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GAAAAGAAACGGACTGGAAAG 0.403000 52 75 0 0 0.000781405 0 0 ATP1A3 478 broad.mit.edu 37 19 42474413 42474413 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:42474413C>T ENST00000545399.1 - 18 2658 c.2505G>A c.(2503-2505)atG>atA p.M835I ATP1A3_ENST00000302102.5_Missense_Mutation_p.M822I|ATP1A3_ENST00000602133.1_Missense_Mutation_p.M792I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.M833I NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 822 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GCTGTCTCTTCATGATGTCGC 0.627000 20 18 0 0 0.00188189 0 0 LTBP3 4054 broad.mit.edu 37 11 65320351 65320351 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:65320351G>A ENST00000301873.5 - 6 1434 c.1166C>T c.(1165-1167)cCc>cTc p.P389L LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.P389L NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 389 EGF-like 2; calcium-binding (Potential). extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 TGTACGGGAGGGGCCTAAACT 0.587000 10 16 0 0 0.00136819 0 0 CEP128 145508 broad.mit.edu 37 14 81251542 81251542 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:81251542G>A ENST00000555265.1 - 15 2283 c.1908C>T c.(1906-1908)tcC>tcT p.S636S CEP128_ENST00000281129.3_Silent_p.S636S Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 636 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GGTCCTTGATGGACTCTTGCA 0.478000 31 48 0 0 0.00178596 0 0 HSPG2 3339 broad.mit.edu 37 1 22169905 22169905 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:22169905G>A ENST00000374695.3 - 66 8722 c.8643C>T c.(8641-8643)aaC>aaT p.N2881N NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2881 Ig-like C2-type 14. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGACACCTGGTTCAGCCTCA 0.652000 11 12 0 0 0.00136819 0 0 HELZ2 85441 broad.mit.edu 37 20 62200605 62200605 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:62200605G>A ENST00000467148.1 - 4 1053 c.984C>T c.(982-984)aaC>aaT p.N328N NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGCTGCTGCGGTTGAACTCCA 0.657000 4 11 0 0 0.00116845 0 0 TENM3 55714 broad.mit.edu 37 4 183600989 183600989 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:183600989G>A ENST00000511685.1 + 8 1620 c.1497G>A c.(1495-1497)ggG>ggA p.G499G TENM3_ENST00000406950.2_Silent_p.G499G teneurin transmembrane protein 3 ATAATGATGGGAAAAATGCAG 0.448000 9 16 0 0 0.000274275 0 0 KIR2DL3 3804 broad.mit.edu 37 19 55263104 55263104 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:55263104A>G ENST00000342376.3 + 6 750 c.719A>G c.(718-720)aAc>aGc p.N240S KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CTTCCAGGTAACCCCAGACAC 0.438000 30 81 0 0 0.000814825 0 0 ZFHX3 463 broad.mit.edu 37 16 72829797 72829797 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:72829797C>T ENST00000268489.5 - 9 7456 c.6784G>A c.(6784-6786)Gat>Aat p.D2262N ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1348N NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2262 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCATTGGCATCGAAGAAGTCC 0.488000 66 91 0 0 0.000781405 0 0 CYP3A43 64816 broad.mit.edu 37 7 99457461 99457461 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:99457461G>A ENST00000354829.2 + 10 977 c.874G>A c.(874-876)Gat>Aat p.D292N CYP3A43_ENST00000444905.1_Missense_Mutation_p.D39N|CYP3A43_ENST00000312017.5_Missense_Mutation_p.D292N|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Missense_Mutation_p.D152N|CYP3A43_ENST00000415413.1_Missense_Mutation_p.D81N|CYP3A43_ENST00000222382.5_Missense_Mutation_p.D292N|CYP3A43_ENST00000417625.1_Missense_Mutation_p.D182N NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 292 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AGCTCTGTCTGATCTGGAGCT 0.433000 62 69 0 0 0.000781405 0 0 GPR111 222611 broad.mit.edu 37 6 47649087 47649087 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47649087C>T ENST00000398742.2 + 5 637 c.588C>T c.(586-588)atC>atT p.I196I GPR111_ENST00000296862.1_Silent_p.I264I|GPR111_ENST00000507065.1_Silent_p.I196I Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 264 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GCAGCTATATCCTGCTACATT 0.408000 50 38 0 0 0.000781405 0 0 TBX20 57057 broad.mit.edu 37 7 35242073 35242073 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:35242073T>C ENST00000408931.3 - 8 1839 c.1313A>G c.(1312-1314)cAt>cGt p.H438R NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 438 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AGCAGAGGAATGGCGTAGTCC 0.498000 5 2 0 0 0.000157383 0 0 MROH2B 133558 broad.mit.edu 37 5 41000823 41000823 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:41000823G>A ENST00000399564.4 - 38 4757 c.4307C>T c.(4306-4308)tCa>tTa p.S1436L MROH2B_ENST00000506092.2_Missense_Mutation_p.S991L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAGAAGGAATGAAATCAGGCT 0.473000 5 9 0 0 0.00116845 0 0 PLD5 200150 broad.mit.edu 37 1 242287898 242287898 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:242287898G>A ENST00000442594.2 - 7 1038 c.529C>T c.(529-531)Cta>Tta p.L177L PLD5_ENST00000427495.1_Silent_p.L207L|PLD5_ENST00000536534.1_Silent_p.L269L NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 269 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) GAACTATATAGAGCAAATATC 0.368000 18 49 0 0 0.00121646 0 0 UBL7 84993 broad.mit.edu 37 15 74743820 74743820 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:74743820G>A ENST00000567435.1 - 5 892 c.429C>T c.(427-429)atC>atT p.I143I UBL7_ENST00000565335.1_Silent_p.I143I|UBL7_ENST00000395081.2_Silent_p.I143I|UBL7_ENST00000564488.1_Silent_p.I143I|UBL7_ENST00000361351.4_Silent_p.I143I Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 143 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 TGGCCACAATGATCTGATCCA 0.493000 35 60 0 0 0.00111076 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661407 176661407 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:176661407C>T ENST00000367662.3 + 6 3741 c.2577C>T c.(2575-2577)tcC>tcT p.S859S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 859 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 CCAACAAGTCCCTCACTATCC 0.507000 21 86 0 0 0.000720815 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906436 164906436 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:164906436G>A ENST00000475390.1 - 2 2626 c.2183C>T c.(2182-2184)tCc>tTc p.S728F SLITRK3_ENST00000241274.3_Missense_Mutation_p.S728F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 728 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTCTGGAGAGGAAAGAGTTGG 0.572000 HNSCC(40;0.11) 13 25 0 0 0.000308642 0 0 SLC9C2 284525 broad.mit.edu 37 1 173493114 173493114 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:173493114G>A ENST00000367714.3 - 21 3056 c.2634C>T c.(2632-2634)ttC>ttT p.F878F SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 878 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTACCTTGAAGAAGTCAATGA 0.378000 60 55 0 0 0.000781405 0 0 LY75 4065 broad.mit.edu 37 2 160732021 160732021 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:160732021G>A ENST00000263636.4 - 12 1935 c.1908C>T c.(1906-1908)tcC>tcT p.S636S LY75-CD302_ENST00000505052.1_Silent_p.S636S|LY75-CD302_ENST00000504764.1_Silent_p.S636S|LY75_ENST00000554112.1_Silent_p.S636S|LY75_ENST00000553424.1_Silent_p.S636S NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CAGGCTTAGGGGATGCTTCTT 0.463000 20 37 0 0 0.000375601 0 0 CYP39A1 51302 broad.mit.edu 37 6 46593237 46593237 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:46593237A>G ENST00000275016.2 - 7 1052 c.849T>C c.(847-849)ttT>ttC p.F283F NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 283 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 CAAGTGTCCAAAATGCAACCT 0.313000 28 87 0 0 0.00127121 0 0 TBX4 9496 broad.mit.edu 37 17 59557462 59557462 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:59557462C>T ENST00000393853.4 + 8 966 c.803C>T c.(802-804)cCc>cTc p.P268L TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.P268L P57082 TBX4_HUMAN T-box 4 268 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AAAGAATACCCCGTGATTTCC 0.597000 68 47 0 0 0.000781405 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677733 37677733 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:37677733G>A ENST00000532828.2 - 5 957 c.706C>T c.(706-708)Cat>Tat p.H236Y ZNF585B_ENST00000531805.1_Missense_Mutation_p.H181Y|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTCCAGTATGAATTTTCTCA 0.408000 37 51 0 0 0.000953801 0 0 ZNF135 7694 broad.mit.edu 37 19 58574891 58574891 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58574891C>T ENST00000506786.1 + 4 666 c.112C>T c.(112-114)Ccc>Tcc p.P38S ZNF135_ENST00000511556.1_Missense_Mutation_p.P80S|ZNF135_ENST00000313434.5_Missense_Mutation_p.P80S|ZNF135_ENST00000439855.2_Missense_Mutation_p.P80S|ZNF135_ENST00000359978.6_Missense_Mutation_p.P92S|ZNF135_ENST00000401053.4_Missense_Mutation_p.P92S B4DHH9 B4DHH9_HUMAN zinc finger protein 135 80 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GTCTAGACTTCCCCAAGGCGT 0.567000 19 25 0 0 0.000958276 0 0 ITIH1 3697 broad.mit.edu 37 3 52825621 52825621 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:52825621G>A ENST00000273283.2 + 21 2607 c.2583G>A c.(2581-2583)agG>agA p.R861R ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000405128.3_Silent_p.R227R|ITIH1_ENST00000537050.1_Silent_p.R573R|ITIH1_ENST00000540715.1_Silent_p.R719R NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 861 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGGTGGTGAGGAACCGCCGGC 0.582000 7 19 0 0 0.000157383 0 0 FAM179A 165186 broad.mit.edu 37 2 29240726 29240726 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:29240726G>A ENST00000379558.4 + 10 1615 c.1264G>A c.(1264-1266)Gac>Aac p.D422N FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 422 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATGCAGAAACGACGTCAGCAT 0.667000 9 17 0 0 0.000442599 0 0 F2RL2 2151 broad.mit.edu 37 5 75913832 75913832 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:75913832C>T ENST00000296641.4 - 2 903 c.700G>A c.(700-702)Gaa>Aaa p.E234K IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.E212K|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 234 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) AGATAATATTCCTGCTTCAGT 0.473000 11 8 0 0 0.000978159 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058080 46058080 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:46058080C>T ENST00000380095.1 + 1 808 c.746C>T c.(745-747)tCc>tTc p.S249F TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 249 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 GGCCAGAAGTCCAGCTGCTGA 0.672000 14 17 0 0 0.00074312 0 0 ADCY10 55811 broad.mit.edu 37 1 167829070 167829070 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:167829070A>G ENST00000367848.1 - 16 2092 c.1595T>C c.(1594-1596)aTa>aCa p.I532T ADCY10_ENST00000545172.1_Missense_Mutation_p.I471T|ADCY10_ENST00000367851.4_Missense_Mutation_p.I624T Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 624 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 CATAAACAATATTTCCAATTG 0.398000 208 121 0 0 0.000781405 0 0 PRMT8 56341 broad.mit.edu 37 12 3702313 3702313 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:3702313G>A ENST00000382622.3 + 10 1540 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K PRMT8_ENST00000452611.2_Missense_Mutation_p.E375K|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 384 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) ACAGCTGTGTGAAACATCTGT 0.522000 21 4 0 0 0.000720815 0 0 C16orf91 283951 broad.mit.edu 37 16 1476323 1476323 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:1476323G>A ENST00000310355.1 - 3 299 c.300C>T c.(298-300)aaC>aaT p.N100N Q4G0I0 CSMT1_HUMAN chromosome 16 open reading frame 91 0 integral to membrane breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CACCTTCCTGGTTGTTGTGGT 0.622000 26 33 0 0 0.000878237 0 0 SEZ6 124925 broad.mit.edu 37 17 27308885 27308885 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:27308885G>A ENST00000317338.12 - 2 656 c.228C>T c.(226-228)ttC>ttT p.F76F SEZ6_ENST00000442608.3_Silent_p.F76F|SEZ6_ENST00000360295.9_Silent_p.F76F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Silent_p.F76F Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 76 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CCTCTTGTAGGAATTCCTCAA 0.622000 23 28 0 0 0.000295444 0 0 DYSF 8291 broad.mit.edu 37 2 71892337 71892337 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:71892337C>T ENST00000258104.3 + 46 5380 c.5103C>T c.(5101-5103)ctC>ctT p.L1701L DYSF_ENST00000409762.1_Silent_p.L1718L|DYSF_ENST00000409366.1_Silent_p.L1723L|DYSF_ENST00000410020.3_Silent_p.L1740L|DYSF_ENST00000429174.2_Silent_p.L1722L|DYSF_ENST00000413539.2_Silent_p.L1732L|DYSF_ENST00000409582.3_Silent_p.L1739L|DYSF_ENST00000409744.1_Silent_p.L1709L|DYSF_ENST00000409651.1_Silent_p.L1733L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.L1702L|DYSF_ENST00000410041.1_Silent_p.L1719L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1701 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCTCCCAGCTCCTCCACCTCT 0.527000 30 50 0 0 0.000339439 0 0 NOL6 65083 broad.mit.edu 37 9 33468751 33468751 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:33468751C>T ENST00000379471.2 - 8 1233 c.1147_splice c.e8+1 p.L382_splice NOL6_ENST00000455041.2_Splice_Site_p.L322_splice|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 382 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TTGCCTCACCCAGAAACTGCA 0.527000 77 15 0 0 0.000781405 0 0 CCDC73 493860 broad.mit.edu 37 11 32663547 32663547 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:32663547C>T ENST00000335185.5 - 13 1064 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 341 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AGTGCTTTTTCATGCTCATTT 0.249000 14 35 0 0 0.000308642 0 0 CHGB 1114 broad.mit.edu 37 20 5897513 5897513 + Silent SNP G G A rs141825852 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:5897513G>A ENST00000378961.4 + 3 342 c.138G>A c.(136-138)tcG>tcA p.S46S CHGB_ENST00000488832.1_3'UTR NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 46 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ATGCCTTGTCGAAGTCCAGCG 0.557000 24 36 0 0 0.000720815 0 0 SLC1A6 6511 broad.mit.edu 37 19 15072936 15072936 + Silent SNP G G A rs2301853 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15072936G>A ENST00000598504.1 - 8 2172 c.813C>T c.(811-813)ctC>ctT p.L271L SLC1A6_ENST00000430939.2_Silent_p.L207L|SLC1A6_ENST00000544886.2_Silent_p.L271L|SLC1A6_ENST00000221742.3_Silent_p.L271L|SLC1A6_ENST00000600144.1_Silent_p.L271L NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 271 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AGAAGACCACGAGGCCCAGGG 0.562000 30 46 0 0 0.000491102 0 0 SPAG1 6674 broad.mit.edu 37 8 101178046 101178046 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:101178046G>T ENST00000388798.2 + 3 336 c.145G>T c.(145-147)Ggt>Tgt p.G49C SPAG1_ENST00000520508.1_Missense_Mutation_p.G49C|SPAG1_ENST00000251809.3_Missense_Mutation_p.G49C|SPAG1_ENST00000520643.1_Missense_Mutation_p.G49C NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 49 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TTTAAGATCTGGTGAGGAAGG 0.418000 13 29 6.31663e-08 4.0116e-07 0.000308642 1 0 PTAFR 5724 broad.mit.edu 37 1 28476903 28476903 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:28476903G>A ENST00000373857.3 - 2 1264 c.630C>T c.(628-630)atC>atT p.I210I PTAFR_ENST00000539896.1_Silent_p.I210I|PTAFR_ENST00000305392.3_Silent_p.I210I NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 210 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) GCAAGGTACGGATGATGACCA 0.567000 11 10 0 0 0.000978159 0 0 AOC3 8639 broad.mit.edu 37 17 41003628 41003628 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:41003628C>T ENST00000308423.2 + 1 428 c.268C>T c.(268-270)Cgg>Tgg p.R90W NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 90 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) AGCCCAGGCCCGGCCCTCGGA 0.672000 47 70 0 0 0.000781405 0 0 FBN3 84467 broad.mit.edu 37 19 8175829 8175829 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:8175829C>T ENST00000600128.1 - 34 4647 c.4233G>A c.(4231-4233)ggG>ggA p.G1411G FBN3_ENST00000601739.1_Silent_p.G1411G|FBN3_ENST00000270509.2_Silent_p.G1411G Q75N90 FBN3_HUMAN fibrillin 3 1411 EGF-like 22; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CACAGAGGTTCCCTTGCGCAC 0.632000 30 26 0 0 0.001512 0 0 SERPINC1 462 broad.mit.edu 37 1 173883882 173883882 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:173883882G>A ENST00000367698.3 - 2 335 c.217C>T c.(217-219)Ccg>Tcg p.P73S SERPINC1_ENST00000494024.1_5'UTR NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 73 P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) GTGGCCTCCGGGATCTTCTGT 0.552000 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 115 0 0 0.000781405 0 0 FMO3 2328 broad.mit.edu 37 1 171086447 171086447 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:171086447C>T ENST00000367755.4 + 9 1575 c.1464C>T c.(1462-1464)acC>acT p.T488T FMO3_ENST00000542847.1_Silent_p.T468T|FMO3_ENST00000392085.2_Silent_p.T488T|FMO3_ENST00000538429.1_Silent_p.T425T NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 488 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) CCATACTGACCCAGTGGGACC 0.527000 4 24 0 0 0.000602214 0 0 RNF213 57674 broad.mit.edu 37 17 78272221 78272221 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:78272221G>T ENST00000582970.1 + 11 2256 c.2113G>T c.(2113-2115)Gcc>Tcc p.A705S RNF213_ENST00000508628.2_Missense_Mutation_p.A754S|RNF213_ENST00000456466.1_Missense_Mutation_p.A705S|RNF213_ENST00000319921.4_Missense_Mutation_p.A705S NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 705 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TATGGAGCTGGCCCCGCGGCA 0.612000 25 28 4.26978e-12 2.73533e-11 0.00047179 1 0 COL13A1 1305 broad.mit.edu 37 10 71705454 71705454 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:71705454G>A ENST00000356340.3 + 35 2499 c.1963G>A c.(1963-1965)Gga>Aga p.G655R COL13A1_ENST00000354547.3_Missense_Mutation_p.G633R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G606R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G643R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G621R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G626R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G641R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G577R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G629R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G624R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G640R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G633R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G583R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G636R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G583R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G655R Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 655 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) TGGGATGACAGGACCAACGGG 0.557000 8 9 0 0 0.000274275 0 0 MUC16 94025 broad.mit.edu 37 19 9084604 9084604 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9084604G>T ENST00000397910.4 - 1 7414 c.7211C>A c.(7210-7212)tCc>tAc p.S2404Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2404 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 GAGAGATGGGGAGGAACTTGC 0.458000 13 13 1.61879e-10 1.03478e-09 0.00136819 1 0 DEGS2 123099 broad.mit.edu 37 14 100613156 100613156 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:100613156G>A ENST00000305631.5 - 3 1489 c.914C>T c.(913-915)tCc>tTc p.S305F DEGS2_ENST00000553834.1_3'UTR NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 305 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GGGCCCCAGGGAGTCCTCAAA 0.622000 28 38 0 0 0.001512 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478363 14478363 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:14478363G>A ENST00000581457.1 - 0 1545 NR_024076.1 GGATTCCAGGGATGAATGATT 0.468000 6 21 0 0 8.12818e-05 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25314443 25314443 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:25314443C>T ENST00000302874.4 + 1 36 c.12C>T c.(10-12)tcC>tcT p.S4S ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 4 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) TGGCGGCCTCCAGGAATGGGT 0.662000 OREG0016141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 106 0 0 0.000781405 0 0 NLRC5 84166 broad.mit.edu 37 16 57062269 57062269 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57062269C>T ENST00000436936.1 + 8 2440 c.2215C>T c.(2215-2217)Cct>Tct p.P739S NLRC5_ENST00000308149.7_Missense_Mutation_p.P739S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P739S|NLRC5_ENST00000262510.6_Missense_Mutation_p.P739S Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 739 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GAAAGCTTTGCCTCTCTGTCC 0.562000 24 36 0 0 0.000720815 0 0 OR4A5 81318 broad.mit.edu 37 11 51411699 51411699 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:51411699C>T ENST00000319760.6 - 1 749 c.697G>A c.(697-699)Gcc>Acc p.A233T NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GTAGACAAGGCTTTACCCCTC 0.408000 5 9 0 0 8.12818e-05 0 0 ABRA 137735 broad.mit.edu 37 8 107773302 107773302 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:107773302C>T ENST00000311955.3 - 2 1163 c.1109G>A c.(1108-1110)gGc>gAc p.G370D NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 370 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) GTCATCTCGGCCTTGCCATAG 0.428000 65 99 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 41719737 41719737 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41719737C>T ENST00000400454.1 - 6 1547 c.1070G>A c.(1069-1071)gGa>gAa p.G357E NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 357 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACATTTTTTCCAGGGTTGAG 0.507000 64 68 0 0 0.000781405 0 0 CACNA1G 8913 broad.mit.edu 37 17 48674195 48674195 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:48674195G>A ENST00000352832.5 + 15 3472 c.3100G>A c.(3100-3102)Ggc>Agc p.G1034S CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1034S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1057S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1034S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1057S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1057S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1034S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1057S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1034S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1034S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1034S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1057S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1057S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1034S NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1057 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CACCAGCACGGGCCTGGGCGA 0.721000 11 5 0 0 0.00185496 0 0 NSUN4 387338 broad.mit.edu 37 1 46827414 46827414 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:46827414A>T ENST00000474844.1 + 6 1701 c.1051A>T c.(1051-1053)Aca>Tca p.T351S NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.T302S|NSUN4_ENST00000537428.1_Missense_Mutation_p.T302S NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 351 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) TTTCATGGACACATTTTGTTT 0.488000 40 72 0 0 0.00128727 0 0 ADAM32 203102 broad.mit.edu 37 8 39091502 39091502 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:39091502C>T ENST00000379907.4 + 16 1846 c.1719C>T c.(1717-1719)ttC>ttT p.F573F ADAM32_ENST00000519315.1_Silent_p.F467F|ADAM32_ENST00000437682.2_Silent_p.F474F NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 573 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TTTATGCTTTCGTACGAGATT 0.393000 5 8 0 0 0.000602214 0 0 OR8I2 120586 broad.mit.edu 37 11 55861530 55861530 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55861530C>T ENST00000302124.2 + 1 778 c.747C>T c.(745-747)atC>atT p.I249I OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) CTGTAACTATCTTTTATGGGT 0.488000 5 17 0 0 0.00116845 0 0 OR4B1 119765 broad.mit.edu 37 11 48239049 48239049 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:48239049G>A ENST00000309562.2 + 1 706 c.688G>A c.(688-690)Ggg>Agg p.G230R NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TTCTGCAGAGGGGAGGCACAA 0.468000 6 10 0 0 8.12818e-05 0 0 TTN 7273 broad.mit.edu 37 2 179542873 179542873 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179542873C>T ENST00000589042.1 - 145 34197 c.33973G>A c.(33973-33975)Gtg>Atg p.V11325M TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V11008M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10081M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11008 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGCTTCCACTTTTTTCGGA 0.363000 25 39 0 0 0.00106085 0 0 ZNF234 10780 broad.mit.edu 37 19 44661600 44661600 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:44661600C>T ENST00000426739.2 + 6 1689 c.1431C>T c.(1429-1431)atC>atT p.I477I ZNF234_ENST00000592437.1_Silent_p.I477I NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) ACCAGCTGATCCATACCGGTG 0.438000 32 39 0 0 0.00178596 0 0 GPRC5B 51704 broad.mit.edu 37 16 19884103 19884103 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:19884103A>T ENST00000300571.2 - 2 256 c.65T>A c.(64-66)gTg>gAg p.V22E GPRC5B_ENST00000537135.1_Missense_Mutation_p.V48E|GPRC5B_ENST00000535671.1_Missense_Mutation_p.V22E|GPRC5B_ENST00000569847.1_Missense_Mutation_p.V22E|GPRC5B_ENST00000569479.1_Missense_Mutation_p.V22E NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 22 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CGAGGTGATCACGAAGAGCAG 0.582000 20 29 0 0 0.00121646 0 0 DDX27 55661 broad.mit.edu 37 20 47858689 47858689 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:47858689C>T ENST00000371764.4 + 18 2164 c.2155C>T c.(2155-2157)Cgc>Tgc p.R719C ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron|DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 719 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGAGGAATCGCAGAGCCAA 0.572000 20 34 0 0 0.00121646 0 0 TRNT1 51095 broad.mit.edu 37 3 3170788 3170788 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:3170788C>T ENST00000251607.6 + 2 166 c.64C>T c.(64-66)Ctt>Ttt p.L22F TRNT1_ENST00000402675.1_Missense_Mutation_p.L22F|TRNT1_ENST00000339437.6_Missense_Mutation_p.L22F|TRNT1_ENST00000420393.1_Missense_Mutation_p.L22F|TRNT1_ENST00000280591.6_Missense_Mutation_p.L22F|TRNT1_ENST00000469632.1_3'UTR NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 22 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) TAGGCTGTGCCTTCCGAAGCA 0.493000 33 47 0 0 0.000409698 0 0 ROR2 4920 broad.mit.edu 37 9 94488955 94488955 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:94488955G>A ENST00000375708.3 - 8 1452 c.1254C>T c.(1252-1254)atC>atT p.I418I ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.I278I NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 418 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AAAGGCAAGCGATGACCAGTG 0.537000 26 9 0 0 0.00106085 0 0 NEU1 4758 broad.mit.edu 37 6 31827680 31827680 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:31827680G>A ENST00000375631.4 - 6 1193 c.1064C>T c.(1063-1065)tCa>tTa p.S355L NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 355 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) TTTCCGCCATGAGGTACCATT 0.612000 143 347 0 0 0.000781405 0 0 FAIM 55179 broad.mit.edu 37 3 138351881 138351881 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:138351881T>C ENST00000338446.4 + 6 1285 c.602T>C c.(601-603)cTc>cCc p.L201P FAIM_ENST00000360570.3_Missense_Mutation_p.L189P|FAIM_ENST00000393035.2_Missense_Mutation_p.L167P|FAIM_ENST00000464668.1_Missense_Mutation_p.L167P|FAIM_ENST00000393034.2_Missense_Mutation_p.L167P NM_001033030.1 NP_001028202.1 Q9NVQ4 FAIM1_HUMAN Fas apoptotic inhibitory molecule 167 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 ATTCATACTCTCATTGTGGAT 0.363000 157 47 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179588002 179588002 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179588002C>T ENST00000589042.1 - 75 21956 c.21732G>A c.(21730-21732)ggG>ggA p.G7244G TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.G6927G|TTN_ENST00000342992.6_Silent_p.G6000G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6927 Ig-like 54. 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) TTATGGACTTCCCTGGTTCTA 0.378000 6 9 0 0 0.00116845 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39717065 39717065 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:39717065G>A ENST00000553728.1 + 4 1500 c.1287G>A c.(1285-1287)acG>acA p.T429T MIA2_ENST00000280082.3_Silent_p.T429T|MIA2_ENST00000556784.1_Silent_p.T428T AAATAGAAACGATAAAAATTA 0.323000 33 48 0 0 0.00058488 0 0 IL4 3565 broad.mit.edu 37 5 132010149 132010149 + Splice_Site SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:132010149A>G ENST00000231449.2 + 2 200 c.e2-1 IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Intron NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) GCCTGGACCAAGACTCTGTGC 0.517000 30 59 0 0 0.000692331 0 0 RAB19 401409 broad.mit.edu 37 7 140125836 140125836 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:140125836C>T ENST00000275874.5 + 5 879 c.681C>T c.(679-681)atC>atT p.I227I RAB19_ENST00000537763.1_Silent_p.I180I|RAB19_ENST00000356407.3_Silent_p.I180I A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 180 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) AGGAGCTGATCGCGCGCAACA 0.577000 36 44 0 0 0.000692331 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44507259 44507259 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:44507259C>T ENST00000255152.2 + 2 2271 c.2062C>T c.(2062-2064)Cct>Tct p.P688S ZSWIM3_ENST00000454862.2_Missense_Mutation_p.P682S NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 688 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GGAGGGATTCCCTCCTGCTAC 0.527000 34 46 0 0 0.000692331 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31813034 31813034 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:31813034G>A ENST00000334067.3 + 1 438 c.389G>A c.(388-390)aGg>aAg p.R130K NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 130 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TTTTCATCCAGGAATTTCCAG 0.453000 40 89 0 0 0.000781405 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806869 97806869 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:97806869C>T ENST00000358642.2 + 1 853 c.853C>T c.(853-855)Ccc>Tcc p.P285S NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 GATTATAATTCCCCTGCTAAA 0.373000 12 15 0 0 0.000978159 0 0 OTOP1 133060 broad.mit.edu 37 4 4190621 4190621 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:4190621C>T ENST00000296358.4 - 6 1772 c.1748G>A c.(1747-1749)tGg>tAg p.W583* NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 583 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CACAATTATCCAGGGTTCAAA 0.468000 11 114 0 0 0.00152264 0 0 ACAN 176 broad.mit.edu 37 15 89401287 89401287 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:89401287G>A ENST00000439576.2 + 12 5845 c.5471G>A c.(5470-5472)gGt>gAt p.G1824D ACAN_ENST00000561243.1_Missense_Mutation_p.G1824D|ACAN_ENST00000559004.1_Missense_Mutation_p.G1824D|ACAN_ENST00000352105.7_Missense_Mutation_p.G1824D NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1824 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTGGCAGCGGTGAATCTTCT 0.532000 16 18 0 0 0.000566183 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322957 61322957 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:61322957G>A ENST00000283752.5 - 8 1250 c.1107C>T c.(1105-1107)ttC>ttT p.F369F SERPINB3_ENST00000332821.8_Silent_p.F317F|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 369 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGAAGAATAGGAAAGGGTGAT 0.438000 5 8 0 0 0.00116845 0 0 MKX 283078 broad.mit.edu 37 10 28023534 28023534 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:28023534G>A ENST00000375790.5 - 5 1121 c.689C>T c.(688-690)tCt>tTt p.S230F MKX_ENST00000419761.1_Missense_Mutation_p.S230F Q8IYA7 MKX_HUMAN mohawk homeobox 230 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 ATGTCTCAAAGAGTCATTAAG 0.478000 22 31 0 0 0.00188189 0 0 ZNF81 347344 broad.mit.edu 37 X 47776023 47776023 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:47776023C>T ENST00000376954.1 + 6 2346 c.1978C>T c.(1978-1980)Cat>Tat p.H660Y ZNF81_ENST00000338637.7_Missense_Mutation_p.H660Y P51508 ZNF81_HUMAN zinc finger protein 81 660 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) TCGCAATATTCATACATGAAA 0.363000 5 1 0 0 0.00116845 0 0 DQX1 165545 broad.mit.edu 37 2 74746699 74746699 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:74746699G>A ENST00000404568.3 - 10 2009 c.1790C>T c.(1789-1791)tCa>tTa p.S597L DQX1_ENST00000393951.2_Missense_Mutation_p.S597L NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 597 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 AAAGTATCCTGACACCAGTGC 0.473000 49 72 0 0 0.000781405 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755684 140755684 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140755684C>T ENST00000517434.1 + 1 2034 c.2034C>T c.(2032-2034)ctC>ctT p.L678L PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_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) TGGGCAGCCTCGAGCCCTCCG 0.687000 28 34 0 0 0.000814825 0 0 RGPD3 653489 broad.mit.edu 37 2 107040789 107040789 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:107040789C>T ENST00000409886.3 - 20 3721 c.3634G>A c.(3634-3636)Gat>Aat p.D1212N RGPD3_ENST00000304514.7_Missense_Mutation_p.D1212N NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1212 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTGTTTGATCATTTGTCAAA 0.428000 84 105 0 0 0.000781405 0 0 BHLHE22 27319 broad.mit.edu 37 8 65493514 65493514 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:65493514C>T ENST00000321870.1 + 1 701 c.167C>T c.(166-168)tCc>tTc p.S56F RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 56 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 CGCCCGGCGTCCTCCTCCTCG 0.761000 6 13 0 0 0.000157383 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590623 125590623 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:125590623C>T ENST00000504087.1 - 4 4846 c.3809G>A c.(3808-3810)gGg>gAg p.G1270E ANKRD50_ENST00000515641.1_Missense_Mutation_p.G1091E NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1270 Ser-rich. NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TGATTTCCCCCCTTTACTTGC 0.398000 16 26 0 0 0.000422831 0 0 FBF1 85302 broad.mit.edu 37 17 73906868 73906868 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73906868T>C ENST00000586717.1 - 29 3611 c.3338A>G c.(3337-3339)aAt>aGt p.N1113S FBF1_ENST00000319129.5_Missense_Mutation_p.N1113S|RP11-552F3.12_ENST00000587556.1_Intron|FBF1_ENST00000389570.4_Missense_Mutation_p.N1114S A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 1113 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GAACTGTTCATTCTCCAAGAA 0.572000 13 8 0 0 0.000219431 0 0 RYR1 6261 broad.mit.edu 37 19 39075687 39075687 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:39075687C>T ENST00000355481.4 + 101 14867 c.14736C>T c.(14734-14736)ttC>ttT p.F4912F RYR1_ENST00000360985.3_Silent_p.F4912F|RYR1_ENST00000359596.3_Silent_p.F4917F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4917 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGTGGTCTTCGACATCACCT 0.607000 13 15 0 0 0.00185496 0 0 ESRP2 80004 broad.mit.edu 37 16 68267909 68267909 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:68267909C>T ENST00000473183.2 - 3 967 c.429G>A c.(427-429)gaG>gaA p.E143E ESRP2_ENST00000565858.1_Silent_p.E143E Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 143 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TCCTGGAGGCCTCGGGGTGCA 0.627000 8 10 0 0 0.000274275 0 0 WBSCR17 64409 broad.mit.edu 37 7 71130396 71130396 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:71130396G>A ENST00000333538.5 + 7 1715 c.1080_splice c.e7-1 p.V361_splice WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 361 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.V361L(1) 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) GTACCCCTAGGTATGGCTCTG 0.502000 47 52 0 0 0.000781405 0 0 GPR111 222611 broad.mit.edu 37 6 47649422 47649422 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47649422G>A ENST00000398742.2 + 5 972 c.923G>A c.(922-924)aGa>aAa p.R308K GPR111_ENST00000296862.1_Missense_Mutation_p.R376K|GPR111_ENST00000507065.1_Missense_Mutation_p.R308K Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 376 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GAACTTAAAAGAATCTCACTG 0.463000 36 107 0 0 0.000692331 0 0 DSCAM 1826 broad.mit.edu 37 21 41414514 41414514 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41414514C>T ENST00000400454.1 - 32 5947 c.5470G>A c.(5470-5472)Gaa>Aaa p.E1824K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1824 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGTTGCTCTTCCATCTTGGCG 0.537000 38 42 0 0 0.00170553 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757303 56757303 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56757303G>A ENST00000326855.2 + 1 957 c.915G>A c.(913-915)ggG>ggA p.G305G NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AAGTGATAGGGAAAAAGTTAT 0.303000 7 18 0 0 8.12818e-05 0 0 AKR7A2 8574 broad.mit.edu 37 1 19632545 19632545 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:19632545G>A ENST00000235835.3 - 6 906 c.885C>T c.(883-885)gcC>gcT p.A295A NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 295 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TCCACCGGAGGGCAGCCGAGG 0.627000 33 40 0 0 0.00058488 0 0 TRPC5 7224 broad.mit.edu 37 X 111020231 111020231 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:111020231C>T ENST00000262839.2 - 11 3151 c.e11-1 NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCTTTAATTCCTGGGAAAAGA 0.408000 41 8 0 0 0.00148497 0 0 TDRD5 163589 broad.mit.edu 37 1 179603722 179603722 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:179603722G>T ENST00000444136.1 + 8 1507 c.1257G>T c.(1255-1257)aaG>aaT p.K419N TDRD5_ENST00000294848.8_Missense_Mutation_p.K419N|TDRD5_ENST00000367614.1_Missense_Mutation_p.K419N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 419 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CACAACAGAAGATTTGCAAGA 0.408000 25 69 1.42536e-11 9.12456e-11 0.000720815 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91413858 91413858 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:91413858G>A ENST00000261991.3 - 4 604 c.431C>T c.(430-432)tCt>tTt p.S144F RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S65F|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.S144F NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 144 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CTCTCTTTGAGAAAGATGAGT 0.348000 39 67 0 0 0.00128727 0 0 CAND2 23066 broad.mit.edu 37 3 12869058 12869058 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:12869058C>T ENST00000456430.2 + 13 3371 c.3330C>T c.(3328-3330)ttC>ttT p.F1110F CAND2_ENST00000295989.5_Silent_p.F993F NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 1110 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TCTGTGAGTTCCTGAACCATG 0.567000 30 45 0 0 0.000339439 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478362 14478362 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:14478362G>A ENST00000581457.1 - 0 1546 NR_024076.1 TGGATTCCAGGGATGAATGAT 0.473000 6 22 0 0 8.12818e-05 0 0 CAD 790 broad.mit.edu 37 2 27447350 27447350 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27447350G>A ENST00000264705.4 + 9 1408 c.1246G>A c.(1246-1248)Ggc>Agc p.G416S CAD_ENST00000403525.1_Missense_Mutation_p.G416S NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 416 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGACTACTCGGGCTCTCAGGT 0.567000 25 42 0 0 0.000586117 0 0 C6orf165 154313 broad.mit.edu 37 6 88173907 88173907 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:88173907G>A ENST00000507897.1 + 13 1891 c.1808G>A c.(1807-1809)gGa>gAa p.G603E C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.G603E Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 603 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CTTCGTGGAGGAAAGAGCGAA 0.468000 13 2 0 0 0.000422831 0 0 KLHL13 90293 broad.mit.edu 37 X 117053571 117053571 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:117053571C>T ENST00000371876.1 - 3 2751 c.330G>A c.(328-330)atG>atA p.M110I KLHL13_ENST00000545703.1_Missense_Mutation_p.M119I|KLHL13_ENST00000541812.1_Missense_Mutation_p.M145I|KLHL13_ENST00000540167.1_Missense_Mutation_p.M145I|KLHL13_ENST00000262820.3_Missense_Mutation_p.M161I|KLHL13_ENST00000539496.1_Missense_Mutation_p.M164I|KLHL13_ENST00000371878.1_Missense_Mutation_p.M110I|KLHL13_ENST00000371882.1_Missense_Mutation_p.M110I|KLHL13_ENST00000469946.1_Missense_Mutation_p.M110I Q9P2N7 KLH13_HUMAN kelch-like family member 13 161 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GAAGGTTGTCCATATTAAGAG 0.368000 51 6 0 0 0.000781405 0 0 PCSK6 5046 broad.mit.edu 37 15 101970250 101970250 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:101970250C>T ENST00000348070.1 - 6 672 c.673G>A c.(673-675)Gac>Aac p.D225N PCSK6_ENST00000344273.2_Missense_Mutation_p.D225N|PCSK6_ENST00000358417.3_Missense_Mutation_p.D225N|PCSK6_ENST00000331826.7_Missense_Mutation_p.D60N|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.D225N NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 226 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCGTTCACGTCGTAGCTGGCG 0.478000 12 24 0 0 0.00185496 0 0 KRTAP9-3 83900 broad.mit.edu 37 17 39388872 39388872 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39388872C>T ENST00000411528.2 + 1 158 c.119C>T c.(118-120)tCc>tTc p.S40F NM_031962.2 NP_114168.1 Q9BYQ3 KRA93_HUMAN keratin associated protein 9-3 40 16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI]. keratin filament protein binding breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1) 8 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGTGTTTCCAGCTGCTGC 0.622000 28 23 0 0 0.000491102 0 0 KRT37 8688 broad.mit.edu 37 17 39577646 39577646 + Missense_Mutation SNP C C G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:39577646C>G ENST00000225550.3 - 6 1213 c.1214G>C c.(1213-1215)cGg>cCg p.R405P AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 405 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CAGAAGGTTCCGGTATGTGGC 0.562000 20 28 0 0 0.000295444 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119551 17119551 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:17119551C>T ENST00000426585.1 + 0 363 ACTTTATATTCCTTCGGAGTA 0.348000 12 33 0 0 0.000978159 0 0 GUCY2C 2984 broad.mit.edu 37 12 14836030 14836030 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:14836030G>A ENST00000261170.3 - 4 693 c.557C>T c.(556-558)tCc>tTc p.S186F RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 186 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGTGCTCCAGGAATAAGTTTT 0.393000 12 3 0 0 0.000219431 0 0 CPLX2 10814 broad.mit.edu 37 5 175305757 175305757 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:175305757G>A ENST00000359546.4 + 3 658 c.15G>A c.(13-15)atG>atA p.M5I CPLX2_ENST00000515094.1_Missense_Mutation_p.M5I|CPLX2_ENST00000393745.3_Missense_Mutation_p.M5I|CPLX2_ENST00000512824.1_Missense_Mutation_p.M5I NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 5 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACTTCGTCATGAAGCAGGCCC 0.667000 12 32 0 0 0.000308642 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318274 30318274 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:30318274T>C ENST00000375377.1 - 3 904 c.803A>G c.(802-804)aAt>aGt p.N268S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 268 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGAGTCCAAATTTGGTGCGCA 0.527000 29 37 0 0 0.001512 0 0 SPDYC 387778 broad.mit.edu 37 11 64938874 64938874 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64938874C>T ENST00000377185.2 + 2 185 c.103C>T c.(103-105)Cag>Tag p.Q35* NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 35 cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 AGTTACCACCCAGGTAGAGCT 0.607000 29 48 0 0 0.000339439 0 0 CSMD3 114788 broad.mit.edu 37 8 113697892 113697892 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:113697892C>T ENST00000297405.5 - 15 2469 c.2225G>A c.(2224-2226)gGa>gAa p.G742E CSMD3_ENST00000455883.2_Missense_Mutation_p.G638E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G742E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G702E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 742 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAAATTATTTCCATACCCTTC 0.403000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 37 0 0 0.000375601 0 0 LILRP2 79166 broad.mit.edu 37 19 55221914 55221914 + RNA SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:55221914C>A ENST00000413439.1 + 0 1441 GACCCTCCCTCTCGGTGCAGC 0.642000 10 17 2.80697e-09 1.79041e-08 0.000978159 1 0 LCT 3938 broad.mit.edu 37 2 136566649 136566649 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:136566649G>A ENST00000264162.2 - 8 3278 c.3268C>T c.(3268-3270)Cca>Tca p.P1090S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1090 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) ATCCTATATGGTGCCCAGCCT 0.532000 20 24 0 0 0.00152264 0 0 KALRN 8997 broad.mit.edu 37 3 124165124 124165124 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:124165124G>A ENST00000360013.3 + 20 3550 c.e20+1 KALRN_ENST00000460856.1_Splice_Site|KALRN_ENST00000240874.3_Splice_Site NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGCTAAGCAGGTTGTCCAAAG 0.557000 15 18 0 0 0.000566183 0 0 RYR1 6261 broad.mit.edu 37 19 38948853 38948853 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:38948853G>A ENST00000355481.4 + 18 2219 c.2088G>A c.(2086-2088)ggG>ggA p.G696G RYR1_ENST00000360985.3_Silent_p.G696G|RYR1_ENST00000359596.3_Silent_p.G696G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 696 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTACCCTGGGGCCGGCGAGG 0.647000 15 30 0 0 0.000566183 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153402 133153402 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:133153402G>A ENST00000388996.4 - 10 1859 c.1439C>T c.(1438-1440)gCc>gTc p.A480V KCNQ3_ENST00000521134.1_Missense_Mutation_p.A360V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A480V NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 480 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GAAAGCGTAGGCTTTCATGCG 0.483000 34 48 0 0 0.00111076 0 0 GPR98 84059 broad.mit.edu 37 5 90041002 90041002 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:90041002G>A ENST00000405460.2 + 51 10785 c.10689G>A c.(10687-10689)aaG>aaA p.K3563K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3563 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) ATTCAAGCAAGAATTTAATAG 0.388000 50 110 0 0 0.000781405 0 0 FAM175B 23172 broad.mit.edu 37 10 126523138 126523138 + Silent SNP G G A rs115537499 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:126523138G>A ENST00000298492.5 + 9 891 c.846G>A c.(844-846)cgG>cgA p.R282R NM_032182.3 NP_115558.3 Q15018 F175B_HUMAN family with sequence similarity 175, member B 282 BRISC complex polyubiquitin binding NS(1) 1 TCAGTCCTCGGATGCCGTCCT 0.502000 22 27 0 0 0.000586117 0 0 UBASH3A 53347 broad.mit.edu 37 21 43838656 43838656 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:43838656G>A ENST00000319294.6 + 7 1015 c.984G>A c.(982-984)cgG>cgA p.R328R UBASH3A_ENST00000291535.6_Silent_p.R290R|UBASH3A_ENST00000398367.1_Silent_p.R290R NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 328 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CGGGCTGCCGGGGCTTCCTGC 0.612000 19 19 0 0 0.000958276 0 0 ADORA3 140 broad.mit.edu 37 1 112106514 112106514 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:112106514C>T ENST00000369717.4 - 1 70 c.61G>A c.(61-63)Gaa>Aaa p.E21K RAP1A_ENST00000356415.1_Intron NM_001081976.1 NP_001075445.1 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGCTGCTCTTCCCAGGAGCTT 0.557000 48 69 0 0 0.000781405 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142197610 142197610 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142197610G>A ENST00000471935.1 - 0 367 GAGTCCTCAAGCTTTGCAGGC 0.502000 29 81 0 0 0.00178596 0 0 LGSN 51557 broad.mit.edu 37 6 63991056 63991056 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:63991056C>T ENST00000370658.5 - 4 433 c.400G>A c.(400-402)Gaa>Aaa p.E134K LGSN_ENST00000370657.4_Missense_Mutation_p.E134K NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 134 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) TTATTCATTTCATTGTCCTTT 0.393000 34 13 0 0 0.000491102 0 0 ABCC11 85320 broad.mit.edu 37 16 48204118 48204118 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:48204118G>A ENST00000394747.1 - 27 4138 c.3789C>T c.(3787-3789)ttC>ttT p.F1263F ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Silent_p.F1263F|ABCC11_ENST00000394748.1_Silent_p.F1263F|ABCC11_ENST00000353782.5_Intron NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1263 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GCTTTTTGGGGAACTTTGAGA 0.522000 79 120 0 0 0.000781405 0 0 SUPT6H 6830 broad.mit.edu 37 17 27014149 27014149 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:27014149C>T ENST00000314616.6 + 22 3027 c.2744C>T c.(2743-2745)tCc>tTc p.S915F SUPT6H_ENST00000347486.4_Missense_Mutation_p.S915F NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 915 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CAGGCCGTCTCCCTGGCCCGG 0.542000 46 68 0 0 0.000781405 0 0 MST1L 11223 broad.mit.edu 37 1 17084074 17084074 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:17084074C>T ENST00000455405.2 - 0 638 CCGCACATGTCCTCGGTGCTT 0.597000 14 138 0 0 0.000422831 0 0 PHLPP1 23239 broad.mit.edu 37 18 60612419 60612419 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:60612419T>G ENST00000400316.4 + 12 3484 c.1703T>G c.(1702-1704)aTg>aGg p.M568R PHLPP1_ENST00000262719.5_Missense_Mutation_p.M1080R NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1080 PH. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 ACAACGATCATGAATTGCAGG 0.433000 22 26 0 0 0.000295444 0 0 CCDC70 83446 broad.mit.edu 37 13 52440032 52440032 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:52440032G>A ENST00000242819.4 + 2 814 c.518G>A c.(517-519)gGg>gAg p.G173E NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 173 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CTCCTTGAGGGGGAGAAAGCC 0.547000 37 64 0 0 0.00148497 0 0 BARX2 8538 broad.mit.edu 37 11 129306867 129306867 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:129306867C>T ENST00000281437.4 + 2 505 c.409C>T c.(409-411)Cgc>Tgc p.R137C BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 137 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCGCCGGAGTCGCACCATCTT 0.632000 5 1 0 0 0.000602214 0 0 ACACA 31 broad.mit.edu 37 17 35603821 35603821 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:35603821G>A ENST00000353139.5 - 19 2862 c.2381C>T c.(2380-2382)cCt>cTt p.P794L ACACA_ENST00000360679.3_Missense_Mutation_p.P699L|ACACA_ENST00000394406.2_Missense_Mutation_p.P757L|ACACA_ENST00000335166.5_Missense_Mutation_p.P679L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 757 Biotinyl-binding. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCCAGCAGAAGGTGAGCGCAT 0.463000 40 55 0 0 0.00128727 0 0 OR5W2 390148 broad.mit.edu 37 11 55681498 55681498 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55681498G>A ENST00000344514.1 - 1 560 c.561C>T c.(559-561)ctC>ctT p.L187L NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTGAGCGAGAGAGTAATAAGA 0.383000 23 33 0 0 0.00047179 0 0 OR2T8 343172 broad.mit.edu 37 1 248084466 248084466 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248084466G>A ENST00000319968.4 + 1 147 c.147G>A c.(145-147)tgG>tgA p.W49* NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 49 W -> R (in dbSNP:rs11204564). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGATTCACTGGGACCACCGGC 0.527000 15 48 0 0 0.00178596 0 0 ITGA4 3676 broad.mit.edu 37 2 182359477 182359477 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:182359477C>T ENST00000397033.2 + 12 1707 c.1277C>T c.(1276-1278)tCg>tTg p.S426L NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 426 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATCAGCAAATCGTTAAGTATG 0.308000 25 33 0 0 0.00127121 0 0 PEX19 5824 broad.mit.edu 37 1 160250033 160250033 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:160250033G>A ENST00000368072.5 - 6 619 c.598C>T c.(598-600)Cca>Tca p.P200S DCAF8_ENST00000556710.1_Missense_Mutation_p.P53S|PEX19_ENST00000440949.3_Missense_Mutation_p.P110S|PEX19_ENST00000532508.1_5'UTR NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AACCATTCTGGATACTAAGAA 0.403000 40 139 0 0 0.00170553 0 0 UNC13C 440279 broad.mit.edu 37 15 54860061 54860061 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:54860061C>T ENST00000545554.1 + 29 6022 c.6022C>T c.(6022-6024)Cag>Tag p.Q2008* UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q2008*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q2006* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2008 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CCCAGATCTTCAGTCTCTGAG 0.373000 5 2 0 0 0.000602214 0 0 CLHC1 130162 broad.mit.edu 37 2 55404787 55404787 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:55404787C>T ENST00000401408.1 - 12 1860 c.1515G>A c.(1513-1515)atG>atA p.M505I CLHC1_ENST00000406437.2_Missense_Mutation_p.M56I|CLHC1_ENST00000407122.1_Missense_Mutation_p.M505I|CLHC1_ENST00000406076.1_Missense_Mutation_p.M383I|CLHC1_ENST00000494539.1_5'UTR NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 CAACTTTTTTCATGTCTGCAG 0.358000 34 34 0 0 0.000692331 0 0 GTF3C3 9330 broad.mit.edu 37 2 197654648 197654648 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:197654648G>A ENST00000263956.3 - 5 771 c.682C>T c.(682-684)Ctg>Ttg p.L228L GTF3C3_ENST00000409364.3_Silent_p.L228L|GTF3C3_ENST00000470386.1_5'UTR NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 228 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TCTTGTTCCAGAGACATTTCT 0.338000 18 30 0 0 0.000375601 0 0 IGLV2-23 28813 broad.mit.edu 37 22 23040834 23040834 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:23040834G>A ENST00000390306.2 + 0 444 CGGCCTCCCTGACAATCTCTG 0.537000 53 71 0 0 0.000781405 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739515 121739515 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:121739515C>T ENST00000261367.7 + 5 1654 c.226C>T c.(226-228)Cca>Tca p.P76S SNCAIP_ENST00000379538.3_Silent_p.S13S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P29S|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P29S|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P76S|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Silent_p.S19S|SNCAIP_ENST00000504884.2_Missense_Mutation_p.P29S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P76S Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 29 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAAGACGATCCCAGAACTGTG 0.458000 19 23 0 0 0.00188189 0 0 ASNA1 439 broad.mit.edu 37 19 12848457 12848457 + Silent SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:12848457T>G ENST00000591090.1 + 2 240 c.138T>G c.(136-138)ggT>ggG p.G46G ASNA1_ENST00000357332.3_Silent_p.G46G O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) 46 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding endometrium(1)|lung(6)|ovary(3) 10 Adenosine triphosphate(DB00171) GGGGCAAGGGTGGTGTGGGCA 0.612000 11 19 0 0 0.000978159 0 0 EMP1 2012 broad.mit.edu 37 12 13366698 13366698 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:13366698T>G ENST00000256951.5 + 4 458 c.259T>G c.(259-261)Ttc>Gtc p.F87V EMP1_ENST00000544053.1_Missense_Mutation_p.F20V|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000431267.2_Missense_Mutation_p.F20V|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_Missense_Mutation_p.F87V NM_001423.2 NP_001414.1 P54849 EMP1_HUMAN epithelial membrane protein 1 87 cell growth|cell proliferation|epidermis development integral to membrane|membrane fraction Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) GTTCCAGCTCTTCACCATGGA 0.507000 68 12 0 0 0.000781405 0 0 MC3R 4159 broad.mit.edu 37 20 54824304 54824304 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:54824304C>T ENST00000243911.2 + 1 517 c.405C>T c.(403-405)ctC>ctT p.L135L NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 172 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCTGCAACCTCCTGGCCATCG 0.562000 33 43 0 0 0.00058488 0 0 FBN2 2201 broad.mit.edu 37 5 127623002 127623002 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:127623002T>C ENST00000508053.1 - 60 7852 c.6878A>G c.(6877-6879)aAa>aGa p.K2293R FBN2_ENST00000262464.4_Missense_Mutation_p.K2293R P35556 FBN2_HUMAN fibrillin 2 2293 EGF-like 38; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGCCTTACCTTTGCACATCTT 0.438000 60 58 0 0 0.000781405 0 0 PELP1 27043 broad.mit.edu 37 17 4586150 4586150 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:4586150G>A ENST00000301396.4 - 4 743 c.518C>T c.(517-519)tCc>tTc p.S173F AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.S26F|PELP1_ENST00000269230.7_Missense_Mutation_p.S173F|PELP1_ENST00000574876.1_Missense_Mutation_p.S173F|PELP1_ENST00000572293.1_Missense_Mutation_p.S223F Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 173 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GTGGTTCATGGAGATGTCCCG 0.652000 5 7 0 0 0.000602214 0 0 MIB1 57534 broad.mit.edu 37 18 19399522 19399522 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:19399522C>T ENST00000261537.6 + 12 2008 c.1744C>T c.(1744-1746)Ctt>Ttt p.L582F MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 582 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) CCTAGCAGTTCTTTTGGAAGC 0.383000 36 86 0 0 0.00111076 0 0 NR1H4 9971 broad.mit.edu 37 12 100926345 100926345 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:100926345G>A ENST00000548884.1 + 5 1096 c.555G>A c.(553-555)agG>agA p.R185R NR1H4_ENST00000188403.7_Silent_p.R195R|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000392986.3_Silent_p.R185R|NR1H4_ENST00000551379.1_Silent_p.R195R NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 195 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 GTCGACTAAGGAAATGCAAAG 0.403000 63 10 0 0 0.000781405 0 0 NDST3 9348 broad.mit.edu 37 4 119059315 119059315 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:119059315T>A ENST00000296499.5 + 5 1734 c.1331T>A c.(1330-1332)aTt>aAt p.I444N NDST3_ENST00000433996.2_Missense_Mutation_p.I363N NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 444 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GTCTGGAATATTAAAATCACC 0.493000 23 15 0 0 0.000295444 0 0 MS4A3 932 broad.mit.edu 37 11 59837105 59837105 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:59837105C>T ENST00000278865.3 + 6 645 c.572C>T c.(571-573)aCc>aTc p.T191I MS4A3_ENST00000534744.1_Missense_Mutation_p.T145I|MS4A3_ENST00000395032.2_Missense_Mutation_p.T68I|MS4A3_ENST00000358152.2_Missense_Mutation_p.T145I NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 191 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) ACCATCTCTACCATAGCCATG 0.433000 143 158 0 0 0.000781405 0 0 OR51F1 256892 broad.mit.edu 37 11 4790701 4790701 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:4790701C>T ENST00000380383.1 - 1 467 c.468G>A c.(466-468)ctG>ctA p.L156L MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.L149L A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 149 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GTGTAATCATCAGAAGACCCA 0.428000 25 4 0 0 0.00047179 0 0 RANBP2 5903 broad.mit.edu 37 2 109370326 109370326 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:109370326C>T ENST00000283195.6 + 15 2227 c.2101C>T c.(2101-2103)Cct>Tct p.P701S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 701 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCCCTTTCTCCTGAAGAACA 0.313000 78 122 0 0 0.000781405 0 0 PSG7 5676 broad.mit.edu 37 19 43430819 43430819 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43430819C>T ENST00000406070.2 - 0 855 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CATCCTTATTCTCCCTGGGGT 0.483000 50 107 0 0 0.000781405 0 0 PHKB 5257 broad.mit.edu 37 16 47699901 47699901 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:47699901C>T ENST00000299167.8 + 25 2410 c.2385C>T c.(2383-2385)agC>agT p.S795S PHKB_ENST00000566044.1_Silent_p.S788S|PHKB_ENST00000323584.5_Intron|PHKB_ENST00000455779.1_Intron Q93100 KPBB_HUMAN phosphorylase kinase, beta 795 Calmodulin-binding (Potential). glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TAGTGGACAGCCTGGCCCCAT 0.463000 18 26 0 0 0.00188189 0 0 MAK 4117 broad.mit.edu 37 6 10784762 10784762 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:10784762C>T ENST00000313243.2 - 11 1742 c.1360G>A c.(1360-1362)Gaa>Aaa p.E454K RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.E454K|MAK_ENST00000474039.1_Missense_Mutation_p.E454K|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR P20794 MAK_HUMAN male germ cell-associated kinase 454 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) CTCTTGTTTTCCCCTGTCGAG 0.463000 67 63 0 0 0.000781405 0 0 KIAA1586 57691 broad.mit.edu 37 6 56915604 56915604 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:56915604C>T ENST00000370733.4 + 3 345 c.138C>T c.(136-138)atC>atT p.I46I KIAA1586_ENST00000545356.1_Intron|KIAA1586_ENST00000488682.1_3'UTR NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 46 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTGAATACATCGATCTGGTCT 0.348000 39 102 0 0 0.000781405 0 0 ADAM11 4185 broad.mit.edu 37 17 42837206 42837206 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:42837206G>A ENST00000200557.6 + 2 347 c.178G>A c.(178-180)Gga>Aga p.G60R ADAM11_ENST00000535346.1_5'UTR NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 60 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GAGCTCCGGGGGAGAGGTCCG 0.697000 16 11 0 0 0.000308642 0 0 SPATA25 128497 broad.mit.edu 37 20 44515211 44515211 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:44515211C>T ENST00000372519.3 - 2 673 c.629G>A c.(628-630)gGg>gAg p.G210E NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 210 integral to membrane GGGCATCTTCCCAGAGGCTGT 0.587000 47 60 0 0 0.000781405 0 0 C1orf127 148345 broad.mit.edu 37 1 11015072 11015072 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:11015072G>A ENST00000377004.4 - 9 949 c.950C>T c.(949-951)cCg>cTg p.P317L C1orf127_ENST00000377008.4_Missense_Mutation_p.P150L NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 168 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCCGGCCGCCGGAATGCTGAC 0.557000 18 20 0 0 0.000375601 0 0 INPP5J 27124 broad.mit.edu 37 22 31524544 31524544 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:31524544G>A ENST00000331075.5 + 9 2146 c.2097G>A c.(2095-2097)aaG>aaA p.K699K INPP5J_ENST00000401755.1_Silent_p.K64K|INPP5J_ENST00000404390.3_Silent_p.K331K|INPP5J_ENST00000404453.1_Silent_p.K64K|INPP5J_ENST00000400294.2_Silent_p.K332K|INPP5J_ENST00000405300.1_Silent_p.K332K|INPP5J_ENST00000412277.2_Silent_p.K632K|INPP5J_ENST00000402238.1_Silent_p.K64K Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 699 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 CAGGACGGAAGAGCCACCGAC 0.607000 21 20 0 0 0.000295444 0 0 OR52R1 119695 broad.mit.edu 37 11 4825248 4825248 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:4825248C>T ENST00000380382.1 - 1 599 c.600G>A c.(598-600)atG>atA p.M200I OR52R1_ENST00000356069.2_Missense_Mutation_p.M121I|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCAGGGCCATAGCCATGA 0.537000 20 6 0 0 0.00121646 0 0 NIPBL 25836 broad.mit.edu 37 5 37019442 37019442 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:37019442A>T ENST00000282516.8 + 25 5449 c.4950A>T c.(4948-4950)caA>caT p.Q1650H NIPBL_ENST00000448238.2_Missense_Mutation_p.Q1650H NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1650 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAATCCAACAATTACAAAAAG 0.338000 22 39 0 0 0.00106085 0 0 WNK4 65266 broad.mit.edu 37 17 40939866 40939866 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:40939866C>T ENST00000246914.5 + 8 1833 c.1812C>T c.(1810-1812)ccC>ccT p.P604P WNK4_ENST00000587705.1_Intron NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 604 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCCTTCAGCCCCCTGGGGGGG 0.637000 26 47 0 0 0.000720815 0 0 REG1A 5967 broad.mit.edu 37 2 79349995 79349995 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:79349995C>T ENST00000233735.1 + 5 453 c.350C>T c.(349-351)tCc>tTc p.S117F NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 117 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 AGCAGTGGGTCCCTGGTCTCC 0.567000 20 31 0 0 0.00047179 0 0 OTOGL 283310 broad.mit.edu 37 12 80726841 80726841 + Missense_Mutation SNP A A C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:80726841A>C ENST00000458043.2 + 37 4384 c.4378A>C c.(4378-4380)Aca>Cca p.T1460P OTOGL_ENST00000547103.1_Missense_Mutation_p.T1448P NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AACACCAACTACAGGCTTGGA 0.363000 4 1 0 0 0.000602214 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674707 71674707 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:71674707G>A ENST00000299952.4 + 3 1053 c.1010G>A c.(1009-1011)aGa>aAa p.R337K MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR NM_001017967.2 NP_001017967.2 Q96A59 MALD3_HUMAN MARVEL domain containing 3 340 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) TGCAAAACAAGAGAGAGGCTC 0.582000 28 31 0 0 0.00106085 0 0 COBLL1 22837 broad.mit.edu 37 2 165578631 165578631 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:165578631G>A ENST00000375458.2 - 6 1171 c.950C>T c.(949-951)cCt>cTt p.P317L COBLL1_ENST00000342193.4_Missense_Mutation_p.P317L|COBLL1_ENST00000409184.3_Missense_Mutation_p.P355L|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.P383L|COBLL1_ENST00000392717.2_Missense_Mutation_p.P355L NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 355 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 ACAAGAAGCAGGCCTCTCCTG 0.502000 9 16 0 0 0.000442599 0 0 SDHA 6389 broad.mit.edu 37 5 235406 235406 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:235406C>T ENST00000264932.6 + 9 1327 c.1212C>T c.(1210-1212)ccC>ccT p.P404P SDHA_ENST00000510361.1_Silent_p.P356P|SDHA_ENST00000504309.1_Silent_p.P404P NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 404 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CTGTCCTCCCCACCGTGCATT 0.617000 Familial Paragangliomas 18 28 0 0 0.00121646 0 0 KDM6B 23135 broad.mit.edu 37 17 7752206 7752206 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7752206C>T ENST00000254846.5 + 11 2989 c.2600C>T c.(2599-2601)tCg>tTg p.S867L KDM6B_ENST00000448097.2_Missense_Mutation_p.S867L NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 867 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 TCTGCTTCCTCGTCATCTCAG 0.716000 9 15 0 0 0.000274275 0 0 ATG3 64422 broad.mit.edu 37 3 112253111 112253111 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:112253111G>A ENST00000402314.2 - 11 1255 c.868C>T c.(868-870)Cct>Tct p.P290S ATG3_ENST00000283290.5_Intron Q9NT62 ATG3_HUMAN autophagy related 3 290 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 TACAGGGAAGGATACATATGA 0.343000 20 34 0 0 0.00152264 0 0 RECQL5 9400 broad.mit.edu 37 17 73626700 73626700 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:73626700C>T ENST00000317905.5 - 13 1876 c.1718_splice c.e13+1 p.E573_splice RECQL5_ENST00000423245.2_Splice_Site_p.E546_splice|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 573 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GGAACTCACTCATCAGCGGTA 0.622000 Other identified genes with known or suspected DNA repair function 14 45 0 0 0.000308642 0 0 LONRF1 91694 broad.mit.edu 37 8 12600738 12600738 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:12600738G>A ENST00000398246.3 - 2 844 c.775C>T c.(775-777)Caa>Taa p.Q259* LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 259 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTAAACTCTTGGAGACCAGCA 0.294000 11 14 0 0 0.00136819 0 0 AKAP1 8165 broad.mit.edu 37 17 55184399 55184399 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:55184399C>T ENST00000337714.3 + 2 1807 c.1574C>T c.(1573-1575)tCg>tTg p.S525L AKAP1_ENST00000571629.1_Missense_Mutation_p.S525L|AKAP1_ENST00000572557.1_Missense_Mutation_p.S525L|AKAP1_ENST00000314126.3_Missense_Mutation_p.S525L|AKAP1_ENST00000539273.1_Missense_Mutation_p.S525L NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 525 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GAGACCAGCTCGAGCCCCAGG 0.572000 95 69 0 0 0.000781405 0 0 FAM83B 222584 broad.mit.edu 37 6 54792370 54792370 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:54792370G>A ENST00000306858.7 + 4 790 c.674G>A c.(673-675)gGa>gAa p.G225E NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 225 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAATTCCATGGAAAAATGGAA 0.333000 18 46 0 0 0.000295444 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103567 2103567 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:2103567C>T ENST00000400921.2 + 9 1269 c.586C>T c.(586-588)Ctg>Ttg p.L196L PRKCZ_ENST00000400920.1_Silent_p.L196L|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 379 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) GGACCTGAAGCTGGACAACGT 0.627000 12 18 0 0 0.000978159 0 0 IFT122 55764 broad.mit.edu 37 3 129202459 129202459 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:129202459C>T ENST00000296266.3 + 16 2130 c.1938C>T c.(1936-1938)gtC>gtT p.V646V IFT122_ENST00000440957.2_Silent_p.V386V|IFT122_ENST00000431818.2_Silent_p.V445V|IFT122_ENST00000349441.2_Silent_p.V484V|IFT122_ENST00000348417.2_Silent_p.V595V|IFT122_ENST00000347300.2_Silent_p.V536V|IFT122_ENST00000507564.1_Silent_p.V587V|IFT122_ENST00000504021.1_Silent_p.V489V NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 595 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GCTTTGTGGTCGGCTACAATG 0.582000 12 0 0 0 0.000219431 0 0 HSF5 124535 broad.mit.edu 37 17 56565373 56565373 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:56565373C>T ENST00000323777.3 - 1 372 c.263G>A c.(262-264)gGc>gAc p.G88D NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 88 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTGCGGAAGCCGTAGAGGTT 0.711000 30 24 0 0 0.000491102 0 0 RTKN 6242 broad.mit.edu 37 2 74657620 74657620 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:74657620C>T ENST00000305557.5 - 5 945 c.360G>A c.(358-360)aaG>aaA p.K120K RTKN_ENST00000272430.5_Silent_p.K133K|RTKN_ENST00000233330.6_Silent_p.K83K NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 133 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 ATTCTGTGTCCTTCCACATGA 0.532000 27 37 0 0 0.001512 0 0 PRKCQ 5588 broad.mit.edu 37 10 6553059 6553059 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:6553059G>A ENST00000263125.5 - 3 315 c.216C>T c.(214-216)atC>atT p.I72I PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.I72I NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 72 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTTTCACAATGATCTGCATGA 0.483000 33 40 0 0 0.000491102 0 0 AMOT 154796 broad.mit.edu 37 X 112021840 112021840 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:112021840G>A ENST00000371959.3 - 11 3209 c.3210C>T c.(3208-3210)atC>atT p.I1070I AMOT_ENST00000524145.1_Silent_p.I1070I|AMOT_ENST00000371962.1_Silent_p.I838I|AMOT_ENST00000304758.1_Silent_p.I661I NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 1070 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CTTGTCCCAGGATCTGAATGG 0.408000 164 28 0 0 0.000781405 0 0 CACNA1S 779 broad.mit.edu 37 1 201047096 201047096 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:201047096C>T ENST00000362061.3 - 11 1756 c.1530G>A c.(1528-1530)gaG>gaA p.E510E CACNA1S_ENST00000367338.3_Silent_p.E510E NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 510 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) CCAGCAGGATCTCCAGGATAC 0.582000 36 32 0 0 0.000680045 0 0 MYOCD 93649 broad.mit.edu 37 17 12655875 12655875 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:12655875C>T ENST00000425538.1 + 10 1470 c.1270C>T c.(1270-1272)Cct>Tct p.P424S MYOCD_ENST00000395988.1_Missense_Mutation_p.P328S|MYOCD_ENST00000343344.4_Missense_Mutation_p.P424S NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 424 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TGTCACTTTTCCTGTCACACC 0.572000 39 42 0 0 0.000509022 0 0 ALOX15B 247 broad.mit.edu 37 17 7950951 7950951 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7950951C>T ENST00000380183.4 + 12 1788 c.1649C>T c.(1648-1650)tCc>tTc p.S550F ALOX15B_ENST00000572022.1_Missense_Mutation_p.S538F|ALOX15B_ENST00000573359.1_Missense_Mutation_p.S476F|ALOX15B_ENST00000380173.2_Missense_Mutation_p.S521F NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 550 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 TTCACCTGCTCCGCCAAGCAT 0.627000 5 13 0 0 0.00116845 0 0 LAD1 3898 broad.mit.edu 37 1 201356205 201356205 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:201356205C>T ENST00000391967.2 - 3 585 c.284G>A c.(283-285)cGg>cAg p.R95Q LAD1_ENST00000367313.3_Missense_Mutation_p.R109Q NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 95 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CCTCTGCCTCCGCTCCTGCCG 0.647000 13 51 0 0 0.00185496 0 0 PLAG1 5324 broad.mit.edu 37 8 57080812 57080812 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:57080812G>A ENST00000316981.3 - 4 496 c.17C>T c.(16-18)cCt>cTt p.P6L PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.P6L NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 6 Interacts with KPNA2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) CAAATCACCAGGAATGACAGT 0.463000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 4 23 0 0 0.000602214 0 0 BRF2 55290 broad.mit.edu 37 8 37702229 37702229 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:37702229G>A ENST00000220659.6 - 4 1159 c.1039C>T c.(1039-1041)Cag>Tag p.Q347* BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 347 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CGCTTCCCCTGGGGTAAACCT 0.617000 20 20 0 0 0.00152264 0 0 ZNF701 55762 broad.mit.edu 37 19 53086149 53086149 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53086149C>T ENST00000540331.1 + 5 1260 c.1035C>T c.(1033-1035)ttC>ttT p.F345F CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Silent_p.F279F|ZNF701_ENST00000301093.2_Silent_p.F345F NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) GCAAGACATTCAGTCACAATT 0.418000 17 22 0 0 0.000566183 0 0 TBXAS1 6916 broad.mit.edu 37 7 139655310 139655310 + Missense_Mutation SNP C C T rs138612126 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:139655310C>T ENST00000263552.6 + 11 1133 c.595C>T c.(595-597)Ccg>Tcg p.P199S TBXAS1_ENST00000411653.1_Missense_Mutation_p.P198S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P244S|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P245S|TBXAS1_ENST00000425687.1_Missense_Mutation_p.P131S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P198S|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P198S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P199S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P199S NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 198 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CTTTGGCACCCCGGTGGACTC 0.547000 32 49 0 0 0.000339439 0 0 PIWIL4 143689 broad.mit.edu 37 11 94300761 94300761 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:94300761C>T ENST00000299001.6 + 1 288 c.77C>T c.(76-78)gCc>gTc p.A26V RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 26 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CGCATCCAAGCCTCGCCATTG 0.572000 12 9 0 0 0.00185496 0 0 LMAN1L 79748 broad.mit.edu 37 15 75108582 75108582 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:75108582C>T ENST00000309664.5 + 2 399 c.260C>T c.(259-261)cCc>cTc p.P87L LMAN1L_ENST00000379709.3_Missense_Mutation_p.P87L NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 87 L-type lectin-like. ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCCTCTGTCCCCTTCTCTGCC 0.662000 4 8 0 0 0.00024832 0 0 TTC3 7267 broad.mit.edu 37 21 38538329 38538329 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:38538329C>T ENST00000399017.2 + 33 6560 c.3813C>T c.(3811-3813)ccC>ccT p.P1271P TTC3_ENST00000355666.1_Silent_p.P1271P|TTC3_ENST00000354749.2_Silent_p.P1271P|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1271 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATGGGCAACCCAAAGGGGTCT 0.468000 41 51 0 0 0.00195071 0 0 LRP1B 53353 broad.mit.edu 37 2 141777598 141777598 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:141777598C>T ENST00000389484.3 - 12 2834 c.1863G>A c.(1861-1863)agG>agA p.R621R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 621 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAATGGTTTTCCTATGGCCAT 0.418000 TSP Lung(27;0.18) 10 13 0 0 0.000673444 0 0 SNX11 29916 broad.mit.edu 37 17 46198670 46198670 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:46198670G>A ENST00000393405.2 + 8 967 c.613G>A c.(613-615)Gaa>Aaa p.E205K SNX11_ENST00000359238.2_Missense_Mutation_p.E205K|SNX11_ENST00000582104.1_Missense_Mutation_p.E197K|SNX11_ENST00000452859.2_Missense_Mutation_p.E61K|SNX11_ENST00000439357.2_Missense_Mutation_p.E144K|SNX11_ENST00000580219.1_Missense_Mutation_p.E197K NM_152244.1 NP_689450.1 Q9Y5W9 SNX11_HUMAN sorting nexin 11 205 cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 GGACCATTTAGAAGTGTGGGC 0.507000 56 83 0 0 0.000781405 0 0 GABRQ 55879 broad.mit.edu 37 X 151818284 151818284 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:151818284C>T ENST00000370306.2 + 6 710 c.690C>T c.(688-690)atC>atT p.I230I NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 230 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) AGCTGCATATCCCTCAGTTCA 0.488000 50 5 0 0 0.000781405 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088864 65088864 + Silent SNP G G A rs140875363 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:65088864G>A ENST00000544348.1 + 2 1101 c.495G>A c.(493-495)ccG>ccA p.P165P CDC42EP2_ENST00000533419.1_Silent_p.P165P|CDC42EP2_ENST00000279249.2_Silent_p.P165P O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 165 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 GACTGACCCCGGAGTCAGGGG 0.637000 20 15 0 0 0.00152264 0 0 ERBB4 2066 broad.mit.edu 37 2 212652880 212652880 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:212652880G>A ENST00000342788.4 - 4 736 c.426C>T c.(424-426)atC>atT p.I142I ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.I142I|ERBB4_ENST00000402597.1_Silent_p.I142I NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 142 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) CACCATTTAGGATTTCTGTAT 0.333000 TSP Lung(8;0.080) 9 12 0 0 0.000442599 0 0 OR7E24 26648 broad.mit.edu 37 19 9361851 9361851 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:9361851C>T ENST00000456448.1 + 1 246 c.132C>T c.(130-132)gtC>gtT p.V44V NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TGCAGCCGGTCCTCGCTGGGC 0.577000 8 14 0 0 0.000274275 0 0 XIRP2 129446 broad.mit.edu 37 2 168115011 168115011 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:168115011G>A ENST00000409728.1 + 11 2143 c.2054G>A c.(2053-2055)aGg>aAg p.R685K XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.R685K|XIRP2_ENST00000409043.1_Missense_Mutation_p.R652K|XIRP2_ENST00000409756.2_Missense_Mutation_p.R652K|XIRP2_ENST00000409605.1_Missense_Mutation_p.R430K|XIRP2_ENST00000409195.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2763 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 AAGAGTAACAGGAAAAGTGCT 0.368000 4 3 0 0 0.00024832 0 0 PSMA8 143471 broad.mit.edu 37 18 23731865 23731865 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:23731865G>A ENST00000308268.6 + 3 380 c.291G>A c.(289-291)gtG>gtA p.V97V PSMA8_ENST00000415576.2_Silent_p.V91V|PSMA8_ENST00000343848.6_Silent_p.V53V NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 97 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GAGCCCGTGTGGAGTGCCAGA 0.368000 16 22 0 0 0.000308642 0 0 NEURL4 84461 broad.mit.edu 37 17 7229762 7229762 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:7229762G>A ENST00000399464.2 - 5 1213 c.1198C>T c.(1198-1200)Cag>Tag p.Q400* NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q400*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q378* NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTACCTGACTGGAGGTTGGTC 0.597000 40 42 0 0 0.00195071 0 0 SEMA4C 54910 broad.mit.edu 37 2 97526640 97526640 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:97526640G>A ENST00000305476.5 - 15 2357 c.2225C>T c.(2224-2226)tCc>tTc p.S742F NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 742 Pro-rich. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TATCTTAAGGGAGCCATCTGA 0.627000 29 25 0 0 0.000339439 0 0 LRIG2 9860 broad.mit.edu 37 1 113637023 113637023 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:113637023C>T ENST00000361127.4 + 5 776 c.578C>T c.(577-579)tCc>tTc p.S193F NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 193 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TTATCAAGTTCCTTATTAGTG 0.348000 48 50 0 0 0.000781405 0 0 MYH7 4625 broad.mit.edu 37 14 23886133 23886133 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:23886133G>A ENST00000355349.3 - 33 4750 c.4588C>T c.(4588-4590)Cga>Tga p.R1530* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1530 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGCTGCTTTCGGACCTTCTCC 0.602000 34 38 0 0 0.00058488 0 0 PRRC1 133619 broad.mit.edu 37 5 126883513 126883513 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:126883513G>T ENST00000442138.2 + 8 1174 c.1028G>T c.(1027-1029)tGg>tTg p.W343L PRRC1_ENST00000512635.2_Missense_Mutation_p.W343L|PRRC1_ENST00000296666.8_Missense_Mutation_p.W343L Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 343 Golgi apparatus endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) TGTTGCAGATGGTTTGACATT 0.353000 7 68 0.000274275 0.00172819 0.000274275 1 0 REG4 83998 broad.mit.edu 37 1 120345554 120345554 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:120345554C>T ENST00000369401.4 - 3 567 c.302G>A c.(301-303)aGa>aAa p.R101K REG4_ENST00000354219.1_Intron|REG4_ENST00000530654.1_Intron|REG4_ENST00000256585.5_Intron NM_001159353.1 NP_001152825.1 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 0 C-type lectin. extracellular region sugar binding central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) ACCCTCTTCTCTCCATTTCAC 0.488000 173 253 0 0 0.000781405 0 0 OR10K1 391109 broad.mit.edu 37 1 158436191 158436191 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158436191C>T ENST00000289451.2 + 1 920 c.840C>T c.(838-840)atC>atT p.I280I NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CATACACCATCCTTACCCCAT 0.393000 26 50 0 0 0.001512 0 0 SETBP1 26040 broad.mit.edu 37 18 42531999 42531999 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:42531999C>T ENST00000282030.5 + 4 2990 c.2694C>T c.(2692-2694)tcC>tcT p.S898S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 898 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ATTTCTGCTCCCTGGACAACC 0.552000 Schinzel-Giedion syndrome 18 12 0 0 0.000566183 0 0 PDE6B 5158 broad.mit.edu 37 4 658000 658000 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:658000G>A ENST00000255622.6 + 17 2162 c.2119G>A c.(2119-2121)Gag>Aag p.E707K PDE6B_ENST00000496514.1_Missense_Mutation_p.E707K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 707 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GACCCGGAAGGAGATCGTCAT 0.617000 33 31 0 0 0.000692331 0 0 OR2T8 343172 broad.mit.edu 37 1 248084465 248084465 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248084465G>A ENST00000319968.4 + 1 146 c.146G>A c.(145-147)tGg>tAg p.W49* NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 49 W -> R (in dbSNP:rs11204564). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTGATTCACTGGGACCACCGG 0.527000 13 48 0 0 0.00127121 0 0 BRIP1 83990 broad.mit.edu 37 17 59761105 59761105 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:59761105G>A ENST00000259008.2 - 20 3569 c.3302C>T c.(3301-3303)cCa>cTa p.P1101L NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1101 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TTCAATGTCTGGATCCAGGGC 0.358000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 50 104 0 0 0.000781405 0 0 ZNF611 81856 broad.mit.edu 37 19 53208329 53208329 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53208329A>T ENST00000543227.1 - 6 2253 c.1979T>A c.(1978-1980)gTg>gAg p.V660E ZNF611_ENST00000602162.1_Missense_Mutation_p.V591E|ZNF611_ENST00000319783.1_Missense_Mutation_p.V660E|ZNF611_ENST00000595798.1_Missense_Mutation_p.V591E|ZNF611_ENST00000453741.2_Missense_Mutation_p.V591E|ZNF611_ENST00000540744.1_Missense_Mutation_p.V660E NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGAATTACGCACGAAAGCCTT 0.403000 54 77 0 0 0.000781405 0 0 OR2W3 343171 broad.mit.edu 37 1 248059135 248059135 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248059135T>C ENST00000537741.1 + 3 504 c.247T>C c.(247-249)Tac>Cac p.Y83H OR2W3_ENST00000360358.3_Missense_Mutation_p.Y83H Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCAGCTGCTCTACAACCTTAA 0.587000 35 78 0 0 0.000953801 0 0 EHD1 10938 broad.mit.edu 37 11 64622919 64622919 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64622919G>A ENST00000320631.3 - 4 1209 c.955C>T c.(955-957)Ccc>Tcc p.P319S EHD1_ENST00000359393.2_Missense_Mutation_p.P319S NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 319 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 AAGACATTGGGCATCTCTTTC 0.557000 OREG0004024 type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 43 59 0 0 0.000680045 0 0 NPSR1 387129 broad.mit.edu 37 7 34724190 34724190 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:34724190C>T ENST00000360581.1 + 2 302 c.174C>T c.(172-174)gtC>gtT p.V58V NPSR1_ENST00000359791.1_Silent_p.V58V|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.V58V|NPSR1_ENST00000381539.3_Silent_p.V58V|NPSR1_ENST00000381553.3_Silent_p.V58V|NPSR1_ENST00000531252.1_Silent_p.V58V|NPSR1_ENST00000465305.1_Silent_p.V58V NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 58 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTCTGTGGGTCCTCTTTGTTT 0.433000 21 59 0 0 0.000720815 0 0 OR6N2 81442 broad.mit.edu 37 1 158746637 158746637 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158746637C>T ENST00000339258.1 - 1 788 c.789G>A c.(787-789)aaG>aaA p.K263K NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) AATAGCTCTTCTTTAGCCGCA 0.443000 22 39 0 0 0.00188189 0 0 HCN1 348980 broad.mit.edu 37 5 45262144 45262144 + Missense_Mutation SNP G G C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:45262144G>C ENST00000303230.4 - 8 2609 c.2552C>G c.(2551-2553)cCc>cGc p.P851R NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 851 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCGGTTCGGGGGGATGGCTCC 0.642000 30 36 0 0 0.00178596 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378688 114378688 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:114378688G>A ENST00000312719.5 - 5 1962 c.774C>T c.(772-774)ctC>ctT p.L258L RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L258L|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 258 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GTTCCGTGATGAGGCGATCTC 0.428000 25 11 0 0 0.000586117 0 0 CPNE2 221184 broad.mit.edu 37 16 57159865 57159865 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57159865G>A ENST00000535318.2 + 12 1382 c.1021G>A c.(1021-1023)Gcc>Acc p.A341T CPNE2_ENST00000290776.8_Missense_Mutation_p.A341T|CPNE2_ENST00000565874.1_Missense_Mutation_p.A341T|CPNE2_ENST00000537605.1_Missense_Mutation_p.A239T|CPNE2_ENST00000565951.1_3'UTR Q96FN4 CPNE2_HUMAN copine II 341 VWFA. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) ATATCTGTCGGCCATCTGGGC 0.532000 19 27 0 0 0.00121646 0 0 GPR6 2830 broad.mit.edu 37 6 110300402 110300402 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:110300402G>A ENST00000414000.2 + 3 371 c.132G>A c.(130-132)ggG>ggA p.G44G GPR6_ENST00000275169.3_Silent_p.G29G P46095 GPR6_HUMAN G protein-coupled receptor 6 29 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) cagcagcaggggggccggACA 0.721000 25 1 0 0 0.000586117 0 0 CELSR3 1951 broad.mit.edu 37 3 48677117 48677117 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:48677117G>A ENST00000544264.1 - 35 10196 c.9916C>T c.(9916-9918)Cca>Tca p.P3306S CELSR3_ENST00000164024.4_Missense_Mutation_p.P3301S Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3301 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCTGAGTCTGGCGACAGCTCC 0.607000 41 75 0 0 0.00195071 0 0 MARCH2 51257 broad.mit.edu 37 19 8503361 8503361 + Silent SNP C C A rs143906987 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:8503361C>A ENST00000602117.1 + 5 1127 c.672C>A c.(670-672)ccC>ccA p.P224P MARCH2_ENST00000393944.1_Silent_p.P224P|MARCH2_ENST00000215555.2_Silent_p.P224P|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Silent_p.P154P Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase 224 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 CGGACAGCCCCGAGGGCCCCC 0.612000 21 29 1.22574e-08 7.80136e-08 0.000295444 1 0 PTPN4 5775 broad.mit.edu 37 2 120720203 120720203 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:120720203C>T ENST00000263708.2 + 24 3063 c.2292C>T c.(2290-2292)caC>caT p.H764H PTPN4_ENST00000544261.1_Silent_p.H397H NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 764 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTAAATGTCACCAATATTGGC 0.303000 11 14 0 0 0.000673444 0 0 PCLO 27445 broad.mit.edu 37 7 82435017 82435017 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:82435017G>A ENST00000333891.8 - 21 15257 c.14920C>T c.(14920-14922)Cct>Tct p.P4974S NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4897 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTCGGAATAGGAAATAGATTA 0.473000 6 7 0 0 8.12818e-05 0 0 RNF168 165918 broad.mit.edu 37 3 196199338 196199338 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:196199338G>A ENST00000318037.3 - 6 1662 c.1068C>T c.(1066-1068)gcC>gcT p.A356A NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 356 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CTGATGTGGGGGCGCACCCAC 0.453000 70 68 0 0 0.000781405 0 0 GGA2 23062 broad.mit.edu 37 16 23489718 23489718 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:23489718G>A ENST00000309859.4 - 13 1345 c.1263C>T c.(1261-1263)ctC>ctT p.L421L GGA2_ENST00000567468.1_Intron|GGA2_ENST00000569182.1_5'UTR NM_015044.4 NP_055859.1 Q9UJY4 GGA2_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 2 421 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) GTGCTGAGAGGAGGTCCAGCA 0.587000 16 37 0 0 0.000422831 0 0 OBSCN 84033 broad.mit.edu 37 1 228503687 228503687 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:228503687G>A ENST00000570156.2 + 61 16097 c.16023G>A c.(16021-16023)gaG>gaA p.E5341E OBSCN_ENST00000284548.11_Silent_p.E4384E|OBSCN_ENST00000366707.4_Silent_p.E2018E|OBSCN_ENST00000422127.1_Silent_p.E4384E|OBSCN_ENST00000366709.4_Silent_p.E1503E NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4384 Ig-like 50. 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) ACACCTCGGAGAACGCCGAGG 0.677000 9 6 0 0 0.000673444 0 0 PHLDB2 90102 broad.mit.edu 37 3 111693387 111693387 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:111693387G>T ENST00000431670.2 + 18 4150 c.3739G>T c.(3739-3741)Ggt>Tgt p.G1247C PHLDB2_ENST00000481953.1_Missense_Mutation_p.G1204C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G1204C|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G1231C|PHLDB2_ENST00000495180.1_Missense_Mutation_p.G738C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G1247C NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1247 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 GGGGGCAGAAGGTTACACTCA 0.463000 31 63 2.87052e-16 1.84833e-15 0.00111076 1 0 KCNA7 3743 broad.mit.edu 37 19 49573344 49573344 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49573344C>T ENST00000221444.1 - 2 1702 c.1347G>A c.(1345-1347)ggG>ggA p.G449G NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 449 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CCAGGTGTTTCCCTGGGGGTG 0.647000 25 44 0 0 0.00127121 0 0 PAPPA2 60676 broad.mit.edu 37 1 176664920 176664920 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:176664920C>T ENST00000367662.3 + 7 3835 c.2671C>T c.(2671-2673)Cgt>Tgt p.R891C NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 891 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 TGGGACCTTTCGTCAGTATGT 0.532000 48 26 0 0 0.000781405 0 0 SP7 121340 broad.mit.edu 37 12 53722750 53722750 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:53722750C>T ENST00000536324.2 - 3 759 c.476G>A c.(475-477)tGg>tAg p.W159* SP7_ENST00000303846.3_Nonsense_Mutation_p.W159*|SP7_ENST00000537210.2_Nonsense_Mutation_p.W141* NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GTGCATATCCCACCATGGAGT 0.602000 20 5 0 0 0.000958276 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 39 0 0 0.000602214 0 0 LRCH4 4034 broad.mit.edu 37 7 100174612 100174612 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:100174612T>A ENST00000310300.6 - 13 1433 c.1381A>T c.(1381-1383)Agt>Tgt p.S461C LRCH4_ENST00000497245.1_Missense_Mutation_p.S9C NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 461 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGGAGGCACTGGACTTAGGC 0.632000 6 5 0 0 0.00116845 0 0 CDH4 1002 broad.mit.edu 37 20 60503270 60503270 + Silent SNP C C T rs113168761 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:60503270C>T ENST00000360469.5 + 12 1882 c.1794C>T c.(1792-1794)acC>acT p.T598T CDH4_ENST00000543233.1_Silent_p.T524T NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 598 Cadherin 4. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCAGCGGCACCGGGACCCTCC 0.612000 42 74 0 0 0.000781405 0 0 NLRP3 114548 broad.mit.edu 37 1 247588449 247588449 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247588449C>T ENST00000366497.2 + 4 2484 c.1704C>T c.(1702-1704)ttC>ttT p.F568F NLRP3_ENST00000348069.2_Silent_p.F568F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.F568F|NLRP3_ENST00000391828.3_Silent_p.F568F|NLRP3_ENST00000336119.3_Silent_p.F568F|NLRP3_ENST00000366496.2_Silent_p.F568F NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 568 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATGGCAAATTCGAAAAGGGGT 0.463000 30 55 0 0 0.00178596 0 0 C6orf58 352999 broad.mit.edu 37 6 127898534 127898534 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:127898534G>A ENST00000329722.7 + 1 216 c.204G>A c.(202-204)ttG>ttA p.L68L C6orf58_ENST00000498112.1_Intron NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 68 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) AAATCATATTGAATCAGACAG 0.418000 25 0 0 0 0.000586117 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176770 142176770 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142176770G>A ENST00000390369.2 - 0 20 GGACCACCCAGCAGAGGAGCC 0.537000 29 30 0 0 0.000491102 0 0 SPINK5 11005 broad.mit.edu 37 5 147486600 147486600 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:147486600G>A ENST00000359874.3 + 17 1553 c.1479_splice c.e17-1 p.E494_splice SPINK5_ENST00000398454.1_Splice_Site_p.E494_splice|SPINK5_ENST00000256084.7_Splice_Site_p.E494_splice NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 494 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATTTCCCAGGAAATCTGCAG 0.393000 12 14 0 0 0.00185496 0 0 TNN 63923 broad.mit.edu 37 1 175049373 175049373 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:175049373C>T ENST00000239462.4 + 4 972 c.859C>T c.(859-861)Cag>Tag p.Q287* NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 287 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCCTCCAGCCAGGTGGATCA 0.597000 8 41 0 0 0.000157383 0 0 SCN2A 6326 broad.mit.edu 37 2 166165764 166165764 + Missense_Mutation SNP C C T rs2228981 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:166165764C>T ENST00000357398.3 + 6 985 c.695C>T c.(694-696)cCa>cTa p.P232L SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.P232L|SCN2A_ENST00000375437.2_Intron Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 232 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TCTGTAATTCCAGGTAAGAAG 0.373000 12 17 0 0 0.000978159 0 0 NXN 64359 broad.mit.edu 37 17 704349 704349 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:704349C>T ENST00000336868.3 - 8 1239 c.1148G>A c.(1147-1149)cGa>cAa p.R383Q NXN_ENST00000575801.1_Missense_Mutation_p.R275Q|NXN_ENST00000537628.2_Missense_Mutation_p.R134Q|NXN_ENST00000538650.1_Missense_Mutation_p.R74Q NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin 383 cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway cytosol|nucleus protein-disulfide reductase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGTGTAATCTCGCAGGGAGTC 0.587000 14 28 0 0 0.000566183 0 0 PARP4 143 broad.mit.edu 37 13 25077796 25077796 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:25077796G>A ENST00000381989.3 - 2 224 c.119C>T c.(118-120)tCg>tTg p.S40L NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 40 BRCT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGGATTTAACGAAAAGGAAAA 0.383000 27 55 0 0 0.00127121 0 0 THSD4 79875 broad.mit.edu 37 15 72020924 72020924 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:72020924G>A ENST00000355327.3 + 9 1528 c.1394G>A c.(1393-1395)gGg>gAg p.G465E THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.G465E|THSD4_ENST00000357769.4_Missense_Mutation_p.G105E Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 465 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ATCATCAATGGGAACTGGGCA 0.502000 48 64 0 0 0.000781405 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115607 15115607 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:15115607G>A ENST00000253699.3 - 14 2650 c.2037C>T c.(2035-2037)ttC>ttT p.F679F ZFYVE20_ENST00000476527.2_Silent_p.F679F NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 679 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 CTGGCTGAATGAATGGATTCC 0.557000 58 79 0 0 0.000781405 0 0 SYTL1 84958 broad.mit.edu 37 1 27679914 27679914 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:27679914C>T ENST00000543823.1 + 13 1946 c.1484C>T c.(1483-1485)tCc>tTc p.S495F SYTL1_ENST00000318074.5_Missense_Mutation_p.S483F|SYTL1_ENST00000490170.1_3'UTR Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 495 C2 2. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCCGAGCTCTCCCTCTGGGAC 0.657000 16 17 0 0 0.00152264 0 0 SMPD4 55627 broad.mit.edu 37 2 130930248 130930248 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:130930248G>A ENST00000409031.1 - 7 1722 c.574C>T c.(574-576)Ccg>Tcg p.P192S SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.P119S|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.P79S|SMPD4_ENST00000351288.6_Missense_Mutation_p.P192S|SMPD4_ENST00000426662.2_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 153 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) tactcGAACGGATCTGAGAGC 0.587000 29 57 0 0 0.000339439 0 0 MYO18B 84700 broad.mit.edu 37 22 26164791 26164791 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:26164791G>A ENST00000335473.7 + 4 1158 c.908G>A c.(907-909)gGg>gAg p.G303E MYO18B_ENST00000536101.1_Missense_Mutation_p.G303E|MYO18B_ENST00000407587.2_Missense_Mutation_p.G303E NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 303 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AAGGACGTAGGGAGTGAAGGG 0.587000 3 5 0 0 6.4e-05 0 0 SLC27A4 10999 broad.mit.edu 37 9 131105465 131105465 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:131105465G>A ENST00000372870.1 + 2 253 c.136G>A c.(136-138)Gaa>Aaa p.E46K SLC27A4_ENST00000300456.3_Silent_p.L18L Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 0 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 AGCTGGTGCTGAAACTGCCCT 0.602000 14 6 0 0 0.000219431 0 0 DTNA 1837 broad.mit.edu 37 18 32374194 32374194 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:32374194C>T ENST00000283365.9 + 5 693 c.342C>T c.(340-342)ttC>ttT p.F114F DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598334.1_Silent_p.F114F|DTNA_ENST00000598774.1_Silent_p.F114F|DTNA_ENST00000597599.1_Silent_p.F114F|DTNA_ENST00000348997.5_Silent_p.F114F|DTNA_ENST00000598142.1_Silent_p.F114F|DTNA_ENST00000554864.3_Silent_p.F114F|DTNA_ENST00000444659.1_Silent_p.F114F|DTNA_ENST00000399113.3_Silent_p.F114F|DTNA_ENST00000595022.1_Silent_p.F114F|DTNA_ENST00000269191.6_Silent_p.F114F|DTNA_ENST00000596745.1_Silent_p.F114F|DTNA_ENST00000315456.6_Silent_p.F114F|DTNA_ENST00000399121.5_Silent_p.F114F|DTNA_ENST00000269190.7_Silent_p.F114F NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 114 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding p.F114F(5) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TCCTTAACTTCCTGCTTGCAG 0.468000 26 43 0 0 0.000586117 0 0 SCN5A 6331 broad.mit.edu 37 3 38647623 38647623 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:38647623C>T ENST00000413689.1 - 10 1350 c.1157G>A c.(1156-1158)gGg>gAg p.G386E SCN5A_ENST00000333535.4_Missense_Mutation_p.G386E|SCN5A_ENST00000450102.2_Missense_Mutation_p.G386E|SCN5A_ENST00000414099.2_Missense_Mutation_p.G386E|SCN5A_ENST00000455624.2_Missense_Mutation_p.G386E|SCN5A_ENST00000451551.2_Missense_Mutation_p.G386E|SCN5A_ENST00000443581.1_Missense_Mutation_p.G386E|SCN5A_ENST00000449557.2_Missense_Mutation_p.G386E|SCN5A_ENST00000425664.1_Missense_Mutation_p.G386E|SCN5A_ENST00000423572.2_Missense_Mutation_p.G386E NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 386 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) GTAGATCTTCCCTGCGGACCT 0.562000 16 29 0 0 0.000422831 0 0 KYNU 8942 broad.mit.edu 37 2 143743579 143743579 + Silent SNP G G A rs140758594 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:143743579G>A ENST00000264170.4 + 10 1149 c.891G>A c.(889-891)acG>acA p.T297T KYNU_ENST00000409512.1_Silent_p.T297T|KYNU_ENST00000375773.2_Silent_p.T297T NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 297 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity p.T297T(2) large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ATGCCCATACGATTAAACCTG 0.328000 7 3 0 0 0.000157383 0 0 ZNF611 81856 broad.mit.edu 37 19 53208656 53208656 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53208656G>A ENST00000543227.1 - 6 1926 c.1652C>T c.(1651-1653)tCc>tTc p.S551F ZNF611_ENST00000602162.1_Missense_Mutation_p.S482F|ZNF611_ENST00000319783.1_Missense_Mutation_p.S551F|ZNF611_ENST00000595798.1_Missense_Mutation_p.S482F|ZNF611_ENST00000453741.2_Missense_Mutation_p.S482F|ZNF611_ENST00000540744.1_Missense_Mutation_p.S551F NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGCCAGATAGGAATGACACGC 0.403000 78 109 0 0 0.000781405 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094910 30094910 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:30094910C>T ENST00000449726.1 + 9 1341 c.991C>T c.(991-993)Ccc>Tcc p.P331S PLEKHA8_ENST00000258679.7_Missense_Mutation_p.P331S|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.P331S|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.P331S NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 331 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 CAGTGGCATTCCCACAGAAGC 0.403000 41 66 0 0 0.000781405 0 0 NLRC5 84166 broad.mit.edu 37 16 57111870 57111870 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:57111870C>T ENST00000262510.6 + 43 5244 c.5019C>T c.(5017-5019)gcC>gcT p.A1673A NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.A1644A|NLRC5_ENST00000539144.1_Silent_p.A1644A NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1673 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCTGCAATGCCCTGGGGGATC 0.672000 16 20 0 0 0.00074312 0 0 SLIT2 9353 broad.mit.edu 37 4 20512168 20512168 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:20512168C>T ENST00000504154.1 + 10 1217 c.965C>T c.(964-966)cCa>cTa p.P322L SLIT2_ENST00000503837.1_Missense_Mutation_p.P326L|SLIT2_ENST00000503823.1_Missense_Mutation_p.P322L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P326L NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 322 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GCTTTCTCACCATATAAAAAG 0.328000 69 83 0 0 0.000781405 0 0 NBPF1 55672 broad.mit.edu 37 1 16892178 16892178 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:16892178G>A ENST00000430580.2 - 27 3901 c.3014C>T c.(3013-3015)tCc>tTc p.S1005F NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1005 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TGCATAAAAGGAACTTCCATA 0.453000 29 690 0 0 0.000878237 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98735349 98735349 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:98735349G>A ENST00000407474.3 + 1 772 c.259G>A c.(259-261)Gaa>Aaa p.E87K Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 0 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding GCAGTCGTATGAATCAATGGA 0.279000 4 0 0 0 0.000602214 0 0 SALL3 27164 broad.mit.edu 37 18 76754350 76754350 + Missense_Mutation SNP G G A rs2974290 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:76754350G>A ENST00000536229.3 + 1 2669 c.1960G>A c.(1960-1962)Gac>Aac p.D654N SALL3_ENST00000575389.2_Missense_Mutation_p.D787N|SALL3_ENST00000537592.2_Missense_Mutation_p.D787N Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 787 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCCTACGACGACAAGAACGC 0.647000 7 9 0 0 0.000157383 0 0 VCAN 1462 broad.mit.edu 37 5 82816935 82816935 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:82816935T>A ENST00000265077.3 + 7 3375 c.2810T>A c.(2809-2811)gTa>gAa p.V937E VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V937E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.V889E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 937 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTAAGCCAGTATCTACTGTT 0.438000 31 38 0 0 0.000692331 0 0 BICC1 80114 broad.mit.edu 37 10 60273023 60273023 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:60273023C>T ENST00000373886.3 + 1 124 c.120C>T c.(118-120)acC>acT p.T40T NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 40 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CCGGGGCGACCCTGCACAGCC 0.677000 9 16 0 0 0.000673444 0 0 MLXIPL 51085 broad.mit.edu 37 7 73013866 73013866 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:73013866C>T ENST00000313375.3 - 8 1108 c.1061G>A c.(1060-1062)aGc>aAc p.S354N MLXIPL_ENST00000414749.2_Missense_Mutation_p.S354N|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S354N|MLXIPL_ENST00000434326.1_Missense_Mutation_p.S261N|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S354N|MLXIPL_ENST00000395189.1_Missense_Mutation_p.S261N NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 354 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) CTGCAGACGGCTGTGTCCAGA 0.637000 17 47 0 0 0.00074312 0 0 ATP10B 23120 broad.mit.edu 37 5 160067517 160067517 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:160067517G>A ENST00000327245.5 - 10 1797 c.951C>T c.(949-951)atC>atT p.I317I NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 317 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCAGAAGAAGATGTCTATAT 0.473000 34 59 0 0 0.00111076 0 0 MBD5 55777 broad.mit.edu 37 2 149243361 149243361 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:149243361C>T ENST00000407073.1 + 11 3893 c.2896C>T c.(2896-2898)Cta>Tta p.L966L MBD5_ENST00000404807.1_Silent_p.L1199L NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 966 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ACTGACTCATCTACAGTCGCT 0.383000 7 11 0 0 8.12818e-05 0 0 CALML3 810 broad.mit.edu 37 10 5567427 5567427 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:5567427C>T ENST00000315238.1 + 1 504 c.379C>T c.(379-381)Cgg>Tgg p.R127W CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA NM_005185.2 NP_005176.1 P27482 CALL3_HUMAN calmodulin-like 3 127 EF-hand 4. calcium ion binding p.R127W(1) endometrium(3)|lung(2) 5 CGAGATGATCCGGGCCGCGGA 0.667000 15 17 0 0 0.000422831 0 0 KRT18P55 284085 broad.mit.edu 37 17 26604343 26604343 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:26604343G>A ENST00000577198.1 - 0 618 NR_028334.1 GGAGAGGGTGGAGCAAGTGGT 0.547000 22 33 0 0 0.00047179 0 0 C21orf59 56683 broad.mit.edu 37 21 33974257 33974257 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:33974257G>A ENST00000290155.3 - 7 1411 c.789C>T c.(787-789)gcC>gcT p.A263A C21orf59_ENST00000382549.4_3'UTR|C21ORF59_ENST00000607686.1_3'UTR NM_021254.2 NP_067077.1 P57076 CU059_HUMAN chromosome 21 open reading frame 59 263 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 AGTTTAAATAGGCATCATCAT 0.383000 39 64 0 0 0.000680045 0 0 RECQL4 9401 broad.mit.edu 37 8 145737578 145737578 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:145737578C>T ENST00000428558.2 - 19 3226 c.3185G>A c.(3184-3186)cGg>cAg p.R1062Q RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 1062 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGGCGCTCCCGGGCCTGCAC 0.662000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 4 14 0 0 0.00024832 0 0 PLB1 151056 broad.mit.edu 37 2 28741348 28741348 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:28741348C>T ENST00000422425.2 + 3 177 c.133C>T c.(133-135)Cca>Tca p.P45S PLB1_ENST00000327757.5_Missense_Mutation_p.P45S NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 45 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GAAGAATTCTCCATTCCCATG 0.408000 30 38 0 0 0.000814825 0 0 ZNF331 55422 broad.mit.edu 37 19 54080169 54080169 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54080169C>T ENST00000253144.9 + 7 1688 c.355C>T c.(355-357)Cct>Tct p.P119S ZNF331_ENST00000512387.1_Missense_Mutation_p.P119S|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.P119S|ZNF331_ENST00000449416.1_Missense_Mutation_p.P119S|ZNF331_ENST00000411977.2_Missense_Mutation_p.P119S|ZNF331_ENST00000513999.1_Missense_Mutation_p.P119S|ZNF331_ENST00000511154.1_Missense_Mutation_p.P119S NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) AGGCACCCCTCCTAGAACACA 0.438000 T ? follicular thyroid adenoma 46 53 0 0 0.000781405 0 0 IGSF9 57549 broad.mit.edu 37 1 159901383 159901383 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:159901383C>T ENST00000368094.1 - 12 1570 c.1373G>A c.(1372-1374)gGg>gAg p.G458E IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Missense_Mutation_p.G442E NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 458 Ig-like 5. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCTTGCAGCCCCCGGCCCAC 0.647000 29 18 0 0 0.001512 0 0 VN1R4 317703 broad.mit.edu 37 19 53770837 53770837 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53770837G>A ENST00000311170.4 - 1 135 c.82C>T c.(82-84)Cat>Tat p.H28Y NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 28 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) GAGAGATAATGGAGAAGAACA 0.498000 HNSCC(26;0.072) 21 42 0 0 0.00152264 0 0 SLC25A18 83733 broad.mit.edu 37 22 18064157 18064157 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:18064157G>A ENST00000327451.5 + 5 715 c.177G>A c.(175-177)gaG>gaA p.E59E AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Silent_p.E59E NM_031481.1 NP_113669.1 Q9H1K4 GHC2_HUMAN solute carrier family 25 (glutamate carrier), member 18 59 integral to membrane|mitochondrial inner membrane binding|symporter activity breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6) 18 Lung(27;0.124) L-Glutamic Acid(DB00142) CTCGGGCGGAGGGCTTCTTCG 0.637000 22 51 0 0 0.000295444 0 0 GGA1 26088 broad.mit.edu 37 22 38028055 38028055 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:38028055C>T ENST00000406772.1 + 16 2014 c.1362C>T c.(1360-1362)ttC>ttT p.F454F GGA1_ENST00000381756.5_Silent_p.F544F|GGA1_ENST00000343632.4_Silent_p.F527F|GGA1_ENST00000337437.4_Silent_p.F494F|GGA1_ENST00000325180.8_Silent_p.F440F NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 527 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GCATCCTCTTCCATTTTGCCC 0.632000 19 24 0 0 0.000958276 0 0 COL11A1 1301 broad.mit.edu 37 1 103352467 103352467 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:103352467G>A ENST00000358392.2 - 63 5107 c.4790C>T c.(4789-4791)tCc>tTc p.S1597F COL11A1_ENST00000353414.4_Missense_Mutation_p.S1546F|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1469F|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1585F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1585 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGTTTCAGGGAATTGAGGGA 0.413000 17 47 0 0 0.00121646 0 0 LRRC36 55282 broad.mit.edu 37 16 67399213 67399213 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:67399213G>A ENST00000329956.6 + 7 728 c.709G>A c.(709-711)Gaa>Aaa p.E237K LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.E116K|LRRC36_ENST00000563189.1_Missense_Mutation_p.E116K NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 237 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) TTAGACACAGGAAGTAGCAAG 0.403000 7 12 0 0 0.000442599 0 0 PAX8 7849 broad.mit.edu 37 2 113984806 113984806 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:113984806G>A ENST00000429538.3 - 10 1309 c.1115C>T c.(1114-1116)cCc>cTc p.P372L PAX8_ENST00000263334.5_Missense_Mutation_p.P346S|AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.P269S|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.P346S NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 372 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 TGGGTATCCGGGCAGCGTGGG 0.617000 T PPARG follicular thyroid Thyroid dysgenesis 7 7 0 0 0.000157383 0 0 FMN2 56776 broad.mit.edu 37 1 240371608 240371608 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:240371608C>T ENST00000319653.9 + 5 3726 c.3496C>T c.(3496-3498)Ccc>Tcc p.P1166S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1166 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACCCCCACCTCCCCCTCTACC 0.692000 7 0 0 0 0.000978159 0 0 TBXA2R 6915 broad.mit.edu 37 19 3600434 3600434 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:3600434G>A ENST00000375190.4 - 2 592 c.199C>T c.(199-201)Ctc>Ttc p.L67F TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67F|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67F NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 67 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) AGGCCGCAGAGGAAGGTGAGG 0.706000 15 12 0 0 0.000308642 0 0 DCTD 1635 broad.mit.edu 37 4 183836694 183836694 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:183836694C>T ENST00000438320.2 - 2 318 c.28G>A c.(28-30)Gac>Aac p.D10N DCTD_ENST00000510370.1_Missense_Mutation_p.D10N|DCTD_ENST00000357067.3_Missense_Mutation_p.D21N|DCTD_ENST00000513383.1_5'UTR NM_001921.2 NP_001912.2 P32321 DCTD_HUMAN dCMP deaminase 10 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) AAATAGTCGTCCCGTTTCTTG 0.408000 70 128 0 0 0.000781405 0 0 SPTA1 6708 broad.mit.edu 37 1 158614107 158614107 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158614107G>A ENST00000368148.3 - 30 4454 c.4274C>T c.(4273-4275)tCc>tTc p.S1425F SPTA1_ENST00000368147.3_Missense_Mutation_p.S1425F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1425 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACTGTCTAAGGAACTTTTGTC 0.423000 17 10 0 0 0.00074312 0 0 RNF10 9921 broad.mit.edu 37 12 121000873 121000873 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:121000873G>A ENST00000325954.4 + 8 1715 c.1254_splice c.e8+1 p.K418_splice RNF10_ENST00000413266.2_Splice_Site_p.K418_splice NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 418 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACCCAGGAAGGTTAGTGTGT 0.512000 49 9 0 0 0.000781405 0 0 OR12D3 81797 broad.mit.edu 37 6 29342984 29342984 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29342984C>T ENST00000396806.3 - 1 84 c.81G>A c.(79-81)ggG>ggA p.G27G OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TTAAGAAAATCCCAAAGAAGA 0.388000 25 15 0 0 0.00127121 0 0 SUCO 51430 broad.mit.edu 37 1 172501872 172501872 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:172501872G>A ENST00000367723.3 + 1 384 c.260G>A c.(259-261)cGa>cAa p.R87Q NM_016227.2 NP_057311.2 SUN domain containing ossification factor AGAGAAAAACGAATTCTGGAA 0.517000 18 55 0 0 0.000566183 0 0 MUC4 4585 broad.mit.edu 37 3 195515738 195515738 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:195515738A>G ENST00000463781.3 - 2 3172 c.2713T>C c.(2713-2715)Tcc>Ccc p.S905P MUC4_ENST00000475231.1_Missense_Mutation_p.S905P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 910 Ser-rich. 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) GCCATCCGGGAAATGGCGGCT 0.602000 14 19 0 0 0.00074312 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726061 53726061 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:53726061G>A ENST00000262135.4 - 4 539 c.446C>T c.(445-447)cCa>cTa p.P149L RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.P149L|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.P149L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P149L NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 149 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ATTATTGTATGGAGTTTGCCT 0.393000 202 350 0 0 0.000781405 0 0 C16orf71 146562 broad.mit.edu 37 16 4797551 4797551 + Missense_Mutation SNP G G C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:4797551G>C ENST00000299320.5 + 9 1966 c.1488G>C c.(1486-1488)agG>agC p.R496S RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.R513S NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 496 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CAAGAGGCAGGCCCAGAGCCC 0.632000 6 5 0 0 0.00116845 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:140481411C>T ENST00000288602.6 - 11 1457 c.1397G>A c.(1396-1398)gGa>gAa p.G466E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 466 Protein kinase. G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR). 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.G466V(15)|p.G466E(5)|p.G466A(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) TCCAAATGATCCAGATCCAAT 0.378000 G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG) 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 36 47 0 0 0.000814825 0 0 ZNF202 7753 broad.mit.edu 37 11 123601466 123601466 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:123601466G>A ENST00000336139.4 - 3 493 c.131C>T c.(130-132)aCc>aTc p.T44I ZNF202_ENST00000530393.1_Missense_Mutation_p.T44I|ZNF202_ENST00000529691.1_Missense_Mutation_p.T44I O95125 ZN202_HUMAN zinc finger protein 202 44 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CTGGTGGGAGGTTTCCAGCAC 0.532000 25 12 0 0 0.000586117 0 0 MAST2 23139 broad.mit.edu 37 1 46499889 46499889 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:46499889C>T ENST00000361297.2 + 28 4102 c.3819C>T c.(3817-3819)ccC>ccT p.P1273P MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Silent_p.P1180P NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1273 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCCTTTCCCCCCGATCTCCCA 0.602000 15 13 0 0 0.000308642 0 0 ARMC4 55130 broad.mit.edu 37 10 28224036 28224036 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:28224036G>A ENST00000305242.5 - 16 2490 c.2398C>T c.(2398-2400)Caa>Taa p.Q800* ARMC4_ENST00000545014.1_Nonsense_Mutation_p.Q325*|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q492* NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 800 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACAAGTGGTTGAATGCCACCA 0.448000 22 26 0 0 0.00047179 0 0 GBE1 2632 broad.mit.edu 37 3 81699050 81699050 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:81699050C>T ENST00000429644.2 - 4 1095 c.452G>A c.(451-453)gGa>gAa p.G151E GBE1_ENST00000489715.1_Missense_Mutation_p.G110E NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 151 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CAAGATCTCTCCGCTTTTACT 0.363000 Glycogen Storage Disease, type IV 22 15 0 0 0.000295444 0 0 TTN 7273 broad.mit.edu 37 2 179592048 179592048 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179592048C>T ENST00000589042.1 - 69 20268 c.20044G>A c.(20044-20046)Ggt>Agt p.G6682S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6365S|TTN_ENST00000342992.6_Missense_Mutation_p.G5438S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6365 Ig-like 48. 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) GAAGAGTCACCTGCTTTCACA 0.403000 5 1 0 0 0.00116845 0 0 HEATR2 54919 broad.mit.edu 37 7 780537 780537 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:780537C>T ENST00000297440.6 + 3 882 c.862C>T c.(862-864)Cct>Tct p.P288S HEATR2_ENST00000313147.5_Missense_Mutation_p.P288S|HEATR2_ENST00000438961.1_3'UTR NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 288 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CAAGCTCATCCCTCTGCTGCT 0.642000 53 66 0 0 0.000781405 0 0 OR2B11 127623 broad.mit.edu 37 1 247614625 247614625 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:247614625G>A ENST00000318749.6 - 1 683 c.660C>T c.(658-660)ctC>ctT p.L220L NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGCCATAGGAGAGAAGGATGA 0.577000 22 56 0 0 0.00188189 0 0 ABAT 18 broad.mit.edu 37 16 8868910 8868910 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:8868910A>T ENST00000396600.2 + 13 2056 c.1118A>T c.(1117-1119)aAt>aTt p.N373I ABAT_ENST00000425191.2_Missense_Mutation_p.N373I|ABAT_ENST00000569156.1_Missense_Mutation_p.N373I|ABAT_ENST00000268251.8_Missense_Mutation_p.N373I|ABAT_ENST00000567812.1_Missense_Mutation_p.N388I NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 373 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TTCAGGCCTAATGCTGTGAGT 0.552000 31 32 0 0 0.000409698 0 0 ARSE 415 broad.mit.edu 37 X 2873470 2873470 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:2873470G>A ENST00000545496.1 - 5 660 c.369C>T c.(367-369)taC>taT p.Y123Y ARSE_ENST00000381134.3_Silent_p.Y98Y|ARSE_ENST00000540563.1_Silent_p.Y53Y P51690 ARSE_HUMAN arylsulfatase E (chondrodysplasia punctata 1) 98 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATCGCACAGGGTATCTGCCCG 0.498000 10 3 0 0 0.000442599 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149214869 149214869 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:149214869C>T ENST00000309241.5 + 7 1780 c.1748C>T c.(1747-1749)cCa>cTa p.P583L PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P583L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P519L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P544L NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 583 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ACCAGCGACCCAACTTTTGGC 0.582000 35 89 0 0 0.00128727 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758725 62758725 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:62758725C>T ENST00000331425.6 - 0 152 NR_003952.1 CATTGCCATTCCTCCAGAGAG 0.418000 14 15 0 0 0.000422831 0 0 DFNA5 1687 broad.mit.edu 37 7 24747848 24747848 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:24747848G>A ENST00000545231.1 - 9 1546 c.396C>T c.(394-396)ttC>ttT p.F132F DFNA5_ENST00000409775.3_Silent_p.F296F|DFNA5_ENST00000419307.1_Silent_p.F132F|DFNA5_ENST00000409970.1_Silent_p.F132F|DFNA5_ENST00000342947.3_Silent_p.F296F O60443 DFNA5_HUMAN deafness, autosomal dominant 5 296 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 CAAATGGATGGAAATTCCTCT 0.517000 15 17 0 0 0.000422831 0 0 IFNA5 3442 broad.mit.edu 37 9 21304743 21304743 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:21304743G>A ENST00000259555.4 - 1 569 c.513C>T c.(511-513)atC>atT p.I171I NM_002169.2 NP_002160.1 P01569 IFNA5_HUMAN interferon, alpha 5 171 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGGATCTCATGATTTCTGCTC 0.398000 64 23 0 0 0.000781405 0 0 C20orf24 55969 broad.mit.edu 37 20 35240542 35240542 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:35240542C>T ENST00000342422.3 + 3 478 c.348C>T c.(346-348)gcC>gcT p.A116A C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR NM_199483.2 NP_955777.1 chromosome 20 open reading frame 24 breast(1)|kidney(1)|lung(2) 4 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GAACCCCAGCCCCTTGGAACT 0.498000 92 164 0 0 0.000781405 0 0 ITGAL 3683 broad.mit.edu 37 16 30507449 30507449 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:30507449G>A ENST00000356798.6 + 14 1715 c.1535G>A c.(1534-1536)gGg>gAg p.G512E ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.G429E|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 512 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GAGCTGCAGGGGGACCCCGGC 0.577000 40 69 0 0 0.00170553 0 0 HUWE1 10075 broad.mit.edu 37 X 53642793 53642793 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:53642793T>G ENST00000342160.3 - 21 2418 c.1961A>C c.(1960-1962)gAt>gCt p.D654A HUWE1_ENST00000262854.6_Missense_Mutation_p.D654A|HUWE1_ENST00000218328.8_Missense_Mutation_p.D654A Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 654 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGATGCAGTATCCCCTTAAGG 0.418000 8 2 0 0 0.000442599 0 0 JARID2 3720 broad.mit.edu 37 6 15513250 15513250 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:15513250C>T ENST00000341776.2 + 15 3484 c.3240C>T c.(3238-3240)acC>acT p.T1080T JARID2_ENST00000397311.3_Silent_p.T908T NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 1080 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CTCTCAGTACCATCTCAGCCC 0.572000 29 102 0 0 0.00106085 0 0 CLSTN2 64084 broad.mit.edu 37 3 139894811 139894811 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:139894811G>A ENST00000458420.3 + 2 318 c.128G>A c.(127-129)tGg>tAg p.W43* NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 43 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CACAAGCCATGGATCGAGACT 0.353000 HNSCC(16;0.037) 10 4 0 0 0.00136819 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 7 51 0 0 8.12818e-05 0 0 CAMK1D 57118 broad.mit.edu 37 10 12867699 12867699 + Missense_Mutation SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:12867699T>G ENST00000378845.1 + 10 1135 c.1049T>G c.(1048-1050)gTa>gGa p.V350G CAMK1D_ENST00000378847.3_Intron NM_020397.2 NP_065130.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 0 Ser-rich. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) TGTGCGTATGTAGCAAAACCA 0.542000 61 198 0 0 0.000781405 0 0 ACSBG2 81616 broad.mit.edu 37 19 6156556 6156556 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6156556C>T ENST00000588304.1 + 5 797 c.351C>T c.(349-351)atC>atT p.I117I ACSBG2_ENST00000586696.1_Silent_p.I167I|ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000252669.5_Silent_p.I167I|ACSBG2_ENST00000591403.1_Silent_p.I167I Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 167 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TACAGAAAATCCTTTCGGTAA 0.463000 60 79 0 0 0.000781405 0 0 SLC6A12 6539 broad.mit.edu 37 12 319086 319086 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:319086C>T ENST00000428720.1 - 3 810 c.67G>A c.(67-69)Gag>Aag p.E23K SLC6A12_ENST00000424061.2_Missense_Mutation_p.E23K|SLC6A12_ENST00000397296.2_Missense_Mutation_p.E23K|SLC6A12_ENST00000359674.4_Missense_Mutation_p.E23K|SLC6A12_ENST00000536824.1_Missense_Mutation_p.E23K NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 23 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) TCCAACTTCTCTCCCTCCTCG 0.617000 24 36 0 0 0.000878237 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90077822 90077822 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:90077822C>T ENST00000390270.2 + 0 143 ACTCTGGCTCCCAGGTGAGGG 0.517000 25 55 0 0 0.00178596 0 0 ATP9A 10079 broad.mit.edu 37 20 50273534 50273534 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:50273534C>T ENST00000338821.5 - 14 1713 c.1449G>A c.(1447-1449)gaG>gaA p.E483E ATP9A_ENST00000311637.5_Silent_p.E347E|ATP9A_ENST00000402822.1_Silent_p.E362E NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 483 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GCTTCTCGGCCTCAGCCTGAT 0.617000 15 17 0 0 0.000308642 0 0 HID1 283987 broad.mit.edu 37 17 72954844 72954844 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:72954844G>A ENST00000425042.2 - 10 1241 c.1164C>T c.(1162-1164)ttC>ttT p.F388F NM_030630.2 NP_085133.1 HID1 domain containing TCTTCAGCACGAAGAAGAGGA 0.612000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 22 0 0 0.000422831 0 0 CSMD1 64478 broad.mit.edu 37 8 2800094 2800094 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:2800094G>A ENST00000520002.1 - 70 10993 c.10438C>T c.(10438-10440)Cat>Tat p.H3480Y CSMD1_ENST00000537824.1_Missense_Mutation_p.H3479Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H3303Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H3303Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H3302Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.H3480Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3480 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCGTGGTAATGACTGGAAGAG 0.383000 7 8 0 0 8.12818e-05 0 0 DHDH 27294 broad.mit.edu 37 19 49442803 49442803 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:49442803G>A ENST00000221403.2 + 4 504 c.464G>A c.(463-465)gGg>gAg p.G155E DHDH_ENST00000522614.1_Missense_Mutation_p.G155E|DHDH_ENST00000523250.1_Intron NM_014475.3 NP_055290.1 Q9UQ10 DHDH_HUMAN dihydrodiol dehydrogenase (dimeric) 155 carbohydrate metabolic process binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179) GCAGAATTTGGGAAGAATCTC 0.627000 29 32 0 0 0.00106085 0 0 FAM135B 51059 broad.mit.edu 37 8 139144923 139144923 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:139144923G>A ENST00000395297.1 - 20 4304 c.4134C>T c.(4132-4134)atC>atT p.I1378I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1378 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) CGGCTCGGCCGATCAGGGTGT 0.537000 HNSCC(54;0.14) 81 115 0 0 0.000781405 0 0 SEZ6L 23544 broad.mit.edu 37 22 26692895 26692895 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:26692895C>T ENST00000529632.2 + 4 1207 c.1011C>T c.(1009-1011)atC>atT p.I337I SEZ6L_ENST00000360929.3_Silent_p.I337I|SEZ6L_ENST00000343706.4_Silent_p.I337I|SEZ6L_ENST00000402979.1_Silent_p.I110I|SEZ6L_ENST00000248933.6_Silent_p.I337I|SEZ6L_ENST00000404234.3_Silent_p.I337I|SEZ6L_ENST00000403121.1_Silent_p.I110I NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 337 CUB 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGCTCTCCATCCGCGGGGTGG 0.587000 11 13 0 0 0.000219431 0 0 COL4A4 1286 broad.mit.edu 37 2 227942694 227942694 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:227942694G>A ENST00000396625.3 - 25 2110 c.1903C>T c.(1903-1905)Cct>Tct p.P635S COL4A4_ENST00000329662.7_Missense_Mutation_p.P635S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 635 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGTGGACCAGGAAATCCCAGT 0.587000 20 21 0 0 0.00121646 0 0 HELQ 113510 broad.mit.edu 37 4 84369967 84369967 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:84369967A>G ENST00000295488.3 - 3 1322 c.1160T>C c.(1159-1161)aTt>aCt p.I387T HELQ_ENST00000510985.1_Missense_Mutation_p.I387T NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 387 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 ATATGGAAGAATCATTAAAAC 0.353000 Other identified genes with known or suspected DNA repair function 36 60 0 0 0.00148497 0 0 DNAH5 1767 broad.mit.edu 37 5 13776791 13776791 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:13776791C>T ENST00000265104.4 - 55 9234 c.9130G>A c.(9130-9132)Gaa>Aaa p.E3044K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3044 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCATCAATTTCATCTCGAGCA 0.393000 Kartagener syndrome 12 22 0 0 0.00136819 0 0 MAP3K15 389840 broad.mit.edu 37 X 19392708 19392708 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:19392708G>A ENST00000338883.4 - 20 2659 c.2660C>T c.(2659-2661)tCc>tTc p.S887F MAP3K15_ENST00000469203.2_Missense_Mutation_p.S719F|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.S322F NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 887 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTCGAAACAGGATAAAATGAA 0.512000 27 7 0 0 0.000878237 0 0 ADORA3 140 broad.mit.edu 37 1 112033353 112033353 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:112033353G>A ENST00000369716.4 - 2 515 c.382C>T c.(382-384)Cta>Tta p.L128L ADORA3_ENST00000369717.4_Silent_p.L47L NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 253 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGGAATGATAGAATGCACCCA 0.453000 22 32 0 0 0.000295444 0 0 OR8H3 390152 broad.mit.edu 37 11 55890756 55890756 + Missense_Mutation SNP G G T rs146433594 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:55890756G>T ENST00000313472.3 + 1 908 c.908G>T c.(907-909)aGa>aTa p.R303I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GCTCTCATTAGAGTCATGCAG 0.358000 11 28 9.04627e-18 5.83769e-17 0.00185496 1 0 UBASH3A 53347 broad.mit.edu 37 21 43838655 43838655 + Missense_Mutation SNP G G A rs149115903 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:43838655G>A ENST00000319294.6 + 7 1014 c.983G>A c.(982-984)cGg>cAg p.R328Q UBASH3A_ENST00000291535.6_Missense_Mutation_p.R290Q|UBASH3A_ENST00000398367.1_Missense_Mutation_p.R290Q NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 328 SH3. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ACGGGCTGCCGGGGCTTCCTG 0.617000 19 19 0 0 0.000958276 0 0 PCLO 27445 broad.mit.edu 37 7 82545171 82545171 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:82545171C>T ENST00000423517.2 - 7 12468 c.12131G>A c.(12130-12132)cGa>cAa p.R4044Q PCLO_ENST00000333891.8_Missense_Mutation_p.R4044Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R764Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3975 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R4044Q(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GACATAATTTCGTGGAGTATG 0.408000 7 5 0 0 8.12818e-05 0 0 SCTR 6344 broad.mit.edu 37 2 120223413 120223413 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:120223413G>A ENST00000019103.5 - 5 722 c.455C>T c.(454-456)tCc>tTc p.S152F NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 152 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) GACCAGGGAGGAGCTGTAGCC 0.612000 18 42 0 0 0.00074312 0 0 TRPC6 7225 broad.mit.edu 37 11 101374881 101374881 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:101374881C>T ENST00000344327.3 - 2 1243 c.819G>A c.(817-819)agG>agA p.R273R TRPC6_ENST00000348423.4_Silent_p.R273R|TRPC6_ENST00000532133.1_Silent_p.R273R|TRPC6_ENST00000360497.4_Silent_p.R273R NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 273 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGGCATTAATCCTAGATCTGG 0.463000 23 39 0 0 0.000586117 0 0 ARID1A 8289 broad.mit.edu 37 1 27106861 27106861 + Silent SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:27106861C>A ENST00000324856.7 + 20 6843 c.6472C>A c.(6472-6474)Cga>Aga p.R2158R ARID1A_ENST00000540690.1_Silent_p.R486R|ARID1A_ENST00000457599.2_Silent_p.R1941R|ARID1A_ENST00000374152.2_Silent_p.R1775R NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2158 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.R2158*(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCAGTGACCGAAAGAACCC 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 30 40 3.99451e-17 2.57395e-16 0.00178596 1 0 HUNK 30811 broad.mit.edu 37 21 33371423 33371423 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:33371423C>T ENST00000270112.2 + 11 2431 c.2071C>T c.(2071-2073)Ctg>Ttg p.L691L NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 691 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GGAGGCCAGCCTGCCCCCACT 0.607000 22 40 0 0 0.000375601 0 0 SSPO 23145 broad.mit.edu 37 7 149516409 149516409 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:149516409C>T ENST00000378016.2 + 0 11812 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCGTGTGCCCTGGCCCTGG 0.687000 13 25 0 0 0.000422831 0 0 MYOM3 127294 broad.mit.edu 37 1 24383924 24383924 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:24383924G>A ENST00000330966.7 - 37 4415 c.4253C>T c.(4252-4254)tCc>tTc p.S1418F MYOM3_ENST00000338909.5_Missense_Mutation_p.S308F|MYOM3_ENST00000374434.3_Missense_Mutation_p.S1415F|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1415 Ig-like C2-type 4. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCCCGTCTCGGAGCCATACTT 0.572000 18 28 0 0 0.00152264 0 0 ZNF773 374928 broad.mit.edu 37 19 58017786 58017786 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58017786C>T ENST00000282292.4 + 4 463 c.323C>T c.(322-324)cCc>cTc p.P108L ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.P107L|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) GTAGAAGTGCCCAGTTCAAAC 0.483000 38 61 0 0 0.000953801 0 0 FASTKD1 79675 broad.mit.edu 37 2 170428488 170428488 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:170428488G>A ENST00000453153.2 - 2 398 c.52C>T c.(52-54)Cta>Tta p.L18L FASTKD1_ENST00000453929.2_Silent_p.L18L NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 18 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 ATAGCTCTTAGACGAAGCATA 0.363000 30 36 0 0 0.000409698 0 0 OR2F2 135948 broad.mit.edu 37 7 143633090 143633090 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143633090G>A ENST00000408955.2 + 1 832 c.765G>A c.(763-765)acG>acA p.T255T NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) ACGGCACAACGATTTTCACTT 0.512000 26 43 0 0 0.00106085 0 0 FAT2 2196 broad.mit.edu 37 5 150946169 150946169 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:150946169G>A ENST00000261800.5 - 1 2336 c.2324C>T c.(2323-2325)gCt>gTt p.A775V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 775 Cadherin 6. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGGGAGCAGCTACAGTGAG 0.502000 22 30 0 0 0.00152264 0 0 CR1L 1379 broad.mit.edu 37 1 207850751 207850751 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:207850751G>A ENST00000508064.2 + 2 175 c.115G>A c.(115-117)Gaa>Aaa p.E39K CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 39 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAATGTCCCGGAATGGCTTCC 0.398000 21 70 0 0 0.000295444 0 0 NEK9 91754 broad.mit.edu 37 14 75574166 75574166 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:75574166G>A ENST00000238616.5 - 11 1365 c.1207C>T c.(1207-1209)Cat>Tat p.H403Y NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 403 cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) AGCTGACCATGGAGTTTAGTG 0.398000 27 30 0 0 0.00127121 0 0 PLCH1 23007 broad.mit.edu 37 3 155200384 155200384 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:155200384G>A ENST00000460012.1 - 23 3698 c.3341C>T c.(3340-3342)tCt>tTt p.S1114F PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1152F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1152 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) GTCTGACAAAGAAAAGGATGT 0.443000 22 30 0 0 0.000375601 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874116 48874116 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:48874116G>A ENST00000394754.1 + 8 3139 c.3025G>A c.(3025-3027)Gga>Aga p.G1009R STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G1009R|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G271R|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G1009R|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.G305R|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G962R|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G1009R NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 962 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAGGATGTATGGATGTGATTC 0.433000 11 19 0 0 0.00185496 0 0 SLC10A3 8273 broad.mit.edu 37 X 153715943 153715943 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:153715943G>A ENST00000263512.4 - 2 1835 c.1337C>T c.(1336-1338)tCc>tTc p.S446F SLC10A3_ENST00000393587.4_Missense_Mutation_p.S446F|SLC10A3_ENST00000369649.4_Missense_Mutation_p.S417F|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S501F NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 446 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 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) GGGGGCCTGGGAGGCATAGTC 0.627000 24 8 0 0 0.000720815 0 0 SLC35F1 222553 broad.mit.edu 37 6 118588217 118588217 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:118588217C>T ENST00000360388.4 + 4 738 c.537C>T c.(535-537)atC>atT p.I179I NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 179 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TCCTGCTGATCCGGTACAAGG 0.517000 60 21 0 0 0.000781405 0 0 ZP2 7783 broad.mit.edu 37 16 21214493 21214493 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:21214493G>A ENST00000574002.1 - 11 1534 c.1052C>T c.(1051-1053)tCc>tTc p.S351F ZP2_ENST00000219593.4_Missense_Mutation_p.S351F|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.S351F Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 351 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GATCACCATGGATACTGTCTC 0.403000 16 27 0 0 0.00074312 0 0 MYO3A 53904 broad.mit.edu 37 10 26459434 26459434 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:26459434G>A ENST00000265944.5 + 29 3530 c.3364G>A c.(3364-3366)Gaa>Aaa p.E1122K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1122 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTCTGATCAGGAATTCGACTA 0.338000 9 14 0 0 0.000442599 0 0 CCDC178 374864 broad.mit.edu 37 18 30926193 30926193 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:30926193G>A ENST00000383096.3 - 9 822 c.640C>T c.(640-642)Cca>Tca p.P214S CCDC178_ENST00000300227.8_Missense_Mutation_p.P214S|CCDC178_ENST00000579947.1_Missense_Mutation_p.P214S|CCDC178_ENST00000583930.1_Missense_Mutation_p.P214S|CCDC178_ENST00000403303.1_Missense_Mutation_p.P214S|CCDC178_ENST00000402325.1_Missense_Mutation_p.P214S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.P214S coiled-coil domain containing 178 p.P214S(2) ACAGCCAATGGGAGTTCTTGA 0.348000 22 41 0 0 0.000375601 0 0 SPNS3 201305 broad.mit.edu 37 17 4391183 4391183 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:4391183G>A ENST00000355530.2 + 12 1813 c.1533G>A c.(1531-1533)gaG>gaA p.E511E SPNS3_ENST00000333476.2_Silent_p.E384E NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 511 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CTACAGAGGAGCCCTGAGGTC 0.627000 16 22 0 0 0.00074312 0 0 ADCY8 114 broad.mit.edu 37 8 131916068 131916068 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:131916068C>T ENST00000286355.5 - 7 3953 c.1861G>A c.(1861-1863)Gga>Aga p.G621R ADCY8_ENST00000377928.3_Missense_Mutation_p.G621R NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 621 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTCCAGGATCCTTCAGTGAAT 0.517000 HNSCC(32;0.087) 18 23 0 0 0.00074312 0 0 HAO1 54363 broad.mit.edu 37 20 7866213 7866213 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:7866213G>A ENST00000378789.3 - 7 1048 c.997C>T c.(997-999)Ctc>Ttc p.L333F NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 333 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AGTATCTCGAGGACATCTTGA 0.373000 5 7 0 0 0.000157383 0 0 OR4K2 390431 broad.mit.edu 37 14 20344554 20344554 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20344554G>A ENST00000298642.2 + 1 164 c.128G>A c.(127-129)aGc>aAc p.S43N NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGGGTAACAGCCTCATAGTC 0.398000 43 138 0 0 0.000437636 0 0 USP19 10869 broad.mit.edu 37 3 49149058 49149058 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:49149058C>T ENST00000453664.1 - 21 3374 c.3056G>A c.(3055-3057)cGg>cAg p.R1019Q USP19_ENST00000434032.2_Missense_Mutation_p.R1029Q|USP19_ENST00000417901.1_Missense_Mutation_p.R1031Q|USP19_ENST00000398888.2_Missense_Mutation_p.R928Q|USP19_ENST00000398892.3_Missense_Mutation_p.R968Q|USP19_ENST00000398896.1_Missense_Mutation_p.R736Q|USP19_ENST00000398898.2_Missense_Mutation_p.R968Q NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 928 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGCCCACACCCGGGGAAGCCC 0.642000 15 22 0 0 0.000566183 0 0 FBXW7 55294 broad.mit.edu 37 4 153268087 153268087 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:153268087A>G ENST00000281708.4 - 4 1950 c.721T>C c.(721-723)Ttt>Ctt p.F241L FBXW7_ENST00000603548.1_Missense_Mutation_p.F241L|FBXW7_ENST00000393956.3_Missense_Mutation_p.F65L|FBXW7_ENST00000263981.5_Missense_Mutation_p.F161L|FBXW7_ENST00000296555.5_Missense_Mutation_p.F123L|FBXW7_ENST00000603841.1_Missense_Mutation_p.F241L NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 241 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTCACCTGAAACATTTTTAGC 0.428000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 15 29 0 0 0.000422831 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131797938 131797938 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:131797938C>T ENST00000392953.3 + 8 1548 c.1029C>T c.(1027-1029)ttC>ttT p.F343F ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Silent_p.F343F|ARHGEF4_ENST00000525839.1_Silent_p.F343F|ARHGEF4_ENST00000355771.3_Silent_p.F272F|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000439368.2_3'UTR NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 343 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGAAGGCCTTCGTGAAGGCCC 0.657000 7 5 0 0 0.000157383 0 0 ZNF99 7652 broad.mit.edu 37 19 22952122 22952122 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:22952122G>A ENST00000397104.3 - 2 70 c.71C>T c.(70-72)tCg>tTg p.S24L ZNF99_ENST00000596209.1_Missense_Mutation_p.S3L zinc finger protein 99 p.S24W(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAATGTCAACGATCCCTGAAA 0.388000 23 34 0 0 0.00047179 0 0 CSDE1 7812 broad.mit.edu 37 1 115268872 115268872 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:115268872C>T ENST00000438362.2 - 14 2116 c.1738G>A c.(1738-1740)Gaa>Aaa p.E580K CSDE1_ENST00000534699.1_Missense_Mutation_p.E534K|CSDE1_ENST00000530886.1_Missense_Mutation_p.E404K|CSDE1_ENST00000261443.5_Missense_Mutation_p.E503K|CSDE1_ENST00000369530.1_Missense_Mutation_p.E549K|CSDE1_ENST00000358528.4_Missense_Mutation_p.E534K|CSDE1_ENST00000339438.6_Missense_Mutation_p.E503K NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 534 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGCTGTTTCAATAAATCCA 0.398000 13 17 0 0 0.00185496 0 0 CERS1 10715 broad.mit.edu 37 19 18994943 18994943 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:18994943G>A ENST00000427170.2 - 3 614 c.543C>T c.(541-543)ctC>ctT p.L181L GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_Silent_p.L181L|CERS1_ENST00000542296.2_Silent_p.L83L NM_001492.4|NM_021267.3 NP_001483.3|NP_067090.1 P27544 CERS1_HUMAN ceramide synthase 1 181 TLC. ceramide biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 CCACGTGGTGGAGCAGCATGA 0.612000 7 14 0 0 0.000157383 0 0 PTPRJ 5795 broad.mit.edu 37 11 48177548 48177548 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:48177548C>T ENST00000418331.2 + 21 3667 c.3315C>T c.(3313-3315)tcC>tcT p.S1105S NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1105 Tyrosine-protein phosphatase. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GCTACCACTCCAAGAAAGATT 0.393000 45 76 0 0 0.000781405 0 0 XKR5 389610 broad.mit.edu 37 8 6690262 6690262 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:6690262G>A ENST00000518724.1 - 0 369 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) CAAGCTGTAGGAGGTGCAGCA 0.552000 34 49 0 0 0.00170553 0 0 CDH16 1014 broad.mit.edu 37 16 66951570 66951570 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:66951570C>T ENST00000299752.4 - 3 297 c.104G>A c.(103-105)gGa>gAa p.G35E CDH16_ENST00000570262.1_Intron|CDH16_ENST00000565796.1_Missense_Mutation_p.G35E|CDH16_ENST00000394055.3_Missense_Mutation_p.G35E|CDH16_ENST00000568632.1_Missense_Mutation_p.G35E NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 35 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGGGAAATTTCCACCATAGTT 0.582000 11 13 0 0 0.000219431 0 0 IFT88 8100 broad.mit.edu 37 13 21179174 21179174 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:21179174G>A ENST00000382778.4 + 14 2187 c.1068_splice c.e14-1 p.D357_splice IFT88_ENST00000319980.6_Splice_Site_p.D357_splice|IFT88_ENST00000351808.5_Splice_Site_p.D348_splice|IFT88_ENST00000537103.1_Splice_Site_p.D329_splice Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 357 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) ATTTTACCAGGATGATCCTCA 0.289000 14 24 0 0 0.000308642 0 0 SFTPD 6441 broad.mit.edu 37 10 81701243 81701243 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:81701243C>T ENST00000372292.3 - 6 618 c.578G>A c.(577-579)gGa>gAa p.G193E NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 193 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) ACCTGGACTTCCCTGGGGACC 0.507000 15 43 0 0 0.000958276 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602208 138602208 + Missense_Mutation SNP A A C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:138602208A>C ENST00000440172.1 - 2 2212 c.2164T>G c.(2164-2166)Ttc>Gtc p.F722V KIAA1549_ENST00000422774.1_Missense_Mutation_p.F722V|KIAA1549_ENST00000242365.4_Missense_Mutation_p.F672V NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 722 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TCAGAAGGGAAGCTTGACCAT 0.463000 O BRAF pilocytic astrocytoma 39 54 0 0 0.00111076 0 0 RBM12 10137 broad.mit.edu 37 20 34240927 34240927 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:34240927C>T ENST00000374114.3 - 3 2581 c.2318G>A c.(2317-2319)gGa>gAa p.G773E RBM12_ENST00000359646.1_Missense_Mutation_p.G773E|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G773E|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 773 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TGGTCCACCTCCAAAACCCGG 0.557000 33 55 0 0 0.000692331 0 0 NF1 4763 broad.mit.edu 37 17 29486027 29486027 + Splice_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:29486027G>A ENST00000358273.4 + 3 587 c.e3-1 NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTTTCTGTTAGAGAATATTTG 0.313000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 16 41 0 0 0.000422831 0 0 TMEM63B 55362 broad.mit.edu 37 6 44102371 44102371 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:44102371G>A ENST00000259746.9 + 2 233 c.50G>A c.(49-51)aGc>aAc p.S17N TMEM63B_ENST00000323267.6_Missense_Mutation_p.S17N Q5T3F8 TM63B_HUMAN transmembrane protein 63B 17 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CTCAACAACAGCAACCCCAAG 0.647000 16 37 0 0 0.00074312 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6043934 6043934 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:6043934C>T ENST00000409021.3 - 17 2498 c.2049G>A c.(2047-2049)ggG>ggA p.G683G JAKMIP1_ENST00000409371.3_Silent_p.G498G NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 454 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGGCCTCGGTCCCCTCTATTT 0.557000 33 44 0 0 0.000692331 0 0 IL1A 3552 broad.mit.edu 37 2 113535611 113535611 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:113535611G>A ENST00000263339.3 - 6 723 c.568C>T c.(568-570)Caa>Taa p.Q190* NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 190 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 ACATACAATTGAGTTTTTGAG 0.378000 19 31 0 0 0.00121646 0 0 STARD13 90627 broad.mit.edu 37 13 33703582 33703582 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:33703582G>A ENST00000336934.5 - 5 1348 c.1232C>T c.(1231-1233)tCt>tTt p.S411F STARD13_ENST00000399365.3_Missense_Mutation_p.S293F|STARD13_ENST00000255486.4_Missense_Mutation_p.S403F NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 411 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCTTTCAATAGAAAGTGCCTT 0.527000 22 27 0 0 0.00188189 0 0 LRFN5 145581 broad.mit.edu 37 14 42356439 42356439 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:42356439C>T ENST00000554171.1 + 5 3043 c.611C>T c.(610-612)tCa>tTa p.S204L LRFN5_ENST00000554120.1_Missense_Mutation_p.S204L|LRFN5_ENST00000298119.4_Missense_Mutation_p.S204L Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 204 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATGTGACATCAAATAAATTG 0.418000 HNSCC(30;0.082) 15 20 0 0 0.000219431 0 0 P4HA2 8974 broad.mit.edu 37 5 131546162 131546162 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:131546162G>A ENST00000401867.1 - 7 1092 c.524C>T c.(523-525)tCg>tTg p.S175L P4HA2_ENST00000379104.2_Missense_Mutation_p.S175L|P4HA2_ENST00000360568.3_Missense_Mutation_p.S175L|P4HA2_ENST00000166534.4_Missense_Mutation_p.S175L|P4HA2_ENST00000379086.1_Missense_Mutation_p.S175L|P4HA2_ENST00000379100.2_Missense_Mutation_p.S175L O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 175 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) ATTGTAGGCCGAGCGGCCCAT 0.537000 117 129 0 0 0.000781405 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24254924 24254924 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:24254924G>A ENST00000538205.1 + 7 892 c.345G>A c.(343-345)ggG>ggA p.G115G RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.G194G|ADAMDEC1_ENST00000522298.1_Silent_p.G115G|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 194 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GCACTGACGGGAAACAAGGCC 0.448000 18 32 0 0 0.00152264 0 0 IFT172 26160 broad.mit.edu 37 2 27700945 27700945 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:27700945T>C ENST00000260570.3 - 11 1187 c.1084A>G c.(1084-1086)Atc>Gtc p.I362V IFT172_ENST00000416524.2_Missense_Mutation_p.I341V|IFT172_ENST00000359466.6_Missense_Mutation_p.I362V NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 362 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TTTCCTAGGATTTTCACCTCT 0.478000 67 78 0 0 0.000781405 0 0 AHSP 51327 broad.mit.edu 37 16 31539891 31539891 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:31539891G>A ENST00000302312.4 + 3 291 c.188G>A c.(187-189)cGa>cAa p.R63Q AHSP_ENST00000569954.1_3'UTR NM_016633.2 NP_057717.1 Q9NZD4 AHSP_HUMAN alpha hemoglobin stabilizing protein 63 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 CCCCAAGAGCGAGACAAGGCT 0.547000 30 36 0 0 0.000409698 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15881996 15881996 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:15881996G>A ENST00000587443.2 - 0 901 NR_033864.1 TGTGCTGGAGGATATGCTGGT 0.552000 24 31 0 0 0.000586117 0 0 MTMR6 9107 broad.mit.edu 37 13 25826045 25826045 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:25826045G>A ENST00000381801.5 - 12 2185 c.1424C>T c.(1423-1425)tCc>tTc p.S475F MTMR6_ENST00000540661.1_Missense_Mutation_p.S475F NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 475 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.S475F(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTGAGATTCGGAACTGTAGAG 0.328000 107 121 0 0 0.000781405 0 0 PTPDC1 138639 broad.mit.edu 37 9 96860833 96860833 + Missense_Mutation SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:96860833A>G ENST00000375360.3 + 7 2163 c.1823A>G c.(1822-1824)gAa>gGa p.E608G PTPDC1_ENST00000288976.3_Missense_Mutation_p.E660G NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 608 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GAAAAGGAGGAACTAAAAAGG 0.363000 31 10 0 0 0.000409698 0 0 PTPN5 84867 broad.mit.edu 37 11 18763942 18763942 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:18763942C>T ENST00000396170.1 - 7 1760 c.496G>A c.(496-498)Gag>Aag p.E166K PTPN5_ENST00000477854.1_Missense_Mutation_p.E2K|PTPN5_ENST00000396171.4_Missense_Mutation_p.E198K|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Missense_Mutation_p.E166K|PTPN5_ENST00000396168.1_Missense_Mutation_p.E174K|PTPN5_ENST00000358540.2_Missense_Mutation_p.E198K NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 198 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 ATCTTCTCCTCCATCCACTCT 0.622000 36 8 0 0 0.000491102 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725993 168725993 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:168725993C>T ENST00000305861.1 + 2 795 c.444C>T c.(442-444)tcC>tcT p.S148S B3GALT1_ENST00000392690.2_Silent_p.S148S|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 1 148 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 TTATTGACTCCTACCATAACC 0.433000 18 29 0 0 0.00121646 0 0 FES 2242 broad.mit.edu 37 15 91435974 91435974 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:91435974C>T ENST00000328850.3 + 14 1887 c.1745C>T c.(1744-1746)gCc>gTc p.A582V FES_ENST00000394300.3_Missense_Mutation_p.A524V|FES_ENST00000414248.2_Missense_Mutation_p.A454V|FES_ENST00000450438.2_Missense_Mutation_p.A454V|FES_ENST00000444422.2_Missense_Mutation_p.A512V|FES_ENST00000394302.1_Missense_Mutation_p.A454V NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 582 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CGCCTGCGAGCCGACAACACC 0.577000 99 167 0 0 0.000781405 0 0 ZNF83 55769 broad.mit.edu 37 19 53116680 53116680 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53116680T>C ENST00000597597.1 - 2 3391 c.1138A>G c.(1138-1140)Aaa>Gaa p.K380E ZNF83_ENST00000544146.1_Missense_Mutation_p.K380E|ZNF83_ENST00000541777.2_Missense_Mutation_p.K380E|ZNF83_ENST00000391789.4_Missense_Mutation_p.K352E|ZNF83_ENST00000536937.1_Missense_Mutation_p.K380E|ZNF83_ENST00000545872.1_Missense_Mutation_p.K380E|ZNF83_ENST00000301096.3_Missense_Mutation_p.K380E|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 380 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTGAATGCTTTGTCACATTCA 0.383000 28 46 0 0 0.000339439 0 0 FAT2 2196 broad.mit.edu 37 5 150924933 150924933 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:150924933G>A ENST00000261800.5 - 9 5767 c.5755C>T c.(5755-5757)Cat>Tat p.H1919Y NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1919 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGACAGGATGGATGGTAACA 0.502000 43 42 0 0 0.000781405 0 0 FAM209B 388799 broad.mit.edu 37 20 55111285 55111285 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:55111285C>T ENST00000371325.1 + 2 403 c.307C>T c.(307-309)Caa>Taa p.Q103* NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 103 integral to membrane AAAGAAAAATCAAAATGCTTC 0.398000 35 56 0 0 0.000692331 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603468 138603468 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:138603468G>A ENST00000440172.1 - 2 952 c.904C>T c.(904-906)Ccc>Tcc p.P302S KIAA1549_ENST00000422774.1_Missense_Mutation_p.P302S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P252S NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 302 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCCAAGGAGGGCAACGGTATA 0.522000 O BRAF pilocytic astrocytoma 16 34 0 0 0.000308642 0 0 SPTA1 6708 broad.mit.edu 37 1 158609699 158609699 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:158609699G>A ENST00000368148.3 - 34 5016 c.4836C>T c.(4834-4836)ttC>ttT p.F1612F SPTA1_ENST00000368147.3_Silent_p.F1612F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1612 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGCTTGTGTTGAACCTCTGTT 0.453000 36 25 0 0 0.000814825 0 0 MATR3 9782 broad.mit.edu 37 5 138661307 138661307 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:138661307C>T ENST00000394800.2 + 17 3020 c.2471C>T c.(2470-2472)cCa>cTa p.P824L MATR3_ENST00000504203.1_Missense_Mutation_p.P438L|MATR3_ENST00000394805.3_Missense_Mutation_p.P776L|MATR3_ENST00000509990.1_Missense_Mutation_p.P776L|MATR3_ENST00000510056.1_Missense_Mutation_p.P776L|MATR3_ENST00000361059.2_Missense_Mutation_p.P776L|MATR3_ENST00000502499.1_Missense_Mutation_p.P438L|MATR3_ENST00000502929.1_Missense_Mutation_p.P824L|MATR3_ENST00000503811.1_Missense_Mutation_p.P488L P43243 MATR3_HUMAN matrin 3 776 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TATACAATCCCAGATGAGTAT 0.418000 28 32 0 0 0.00178596 0 0 SEPN1 57190 broad.mit.edu 37 1 26135082 26135082 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:26135082C>T ENST00000361547.2 + 5 604 c.549C>T c.(547-549)ctC>ctT p.L183L SEPN1_ENST00000354177.4_Silent_p.L149L|SEPN1_ENST00000374315.1_Silent_p.L149L NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 183 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCCGCCTCGCCCTGTCCG 0.662000 32 70 0 0 0.000491102 0 0 FOXN3 1112 broad.mit.edu 37 14 89878539 89878539 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:89878539G>A ENST00000345097.4 - 2 398 c.282C>T c.(280-282)acC>acT p.T94T FOXN3_ENST00000557258.1_Silent_p.T94T|FOXN3_ENST00000555353.1_Silent_p.T94T|FOXN3_ENST00000261302.5_Silent_p.T94T NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 94 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGGATGGGGGGGTGTCATCGT 0.592000 26 31 0 0 0.000878237 0 0 BMP1 649 broad.mit.edu 37 8 22052092 22052092 + Nonsense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:22052092C>T ENST00000306385.5 + 11 2102 c.1432C>T c.(1432-1434)Cag>Tag p.Q478* BMP1_ENST00000397816.3_Nonsense_Mutation_p.Q478*|BMP1_ENST00000397814.3_Nonsense_Mutation_p.Q478*|BMP1_ENST00000306349.8_Nonsense_Mutation_p.Q478*|BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 478 CUB 2. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CCTCACATTCCAGTCCTTTGA 0.582000 26 39 0 0 0.00178596 0 0 COL7A1 1294 broad.mit.edu 37 3 48626411 48626411 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:48626411G>A ENST00000328333.8 - 18 2439 c.2332C>T c.(2332-2334)Cgt>Tgt p.R778C COL7A1_ENST00000454817.1_Missense_Mutation_p.R778C NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 778 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCGACACACGACCCACAGGC 0.602000 29 53 0 0 0.000409698 0 0 IGSF10 285313 broad.mit.edu 37 3 151160963 151160963 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:151160963A>G ENST00000282466.3 - 5 5771 c.5772T>C c.(5770-5772)ggT>ggC p.G1924G NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1924 Ig-like C2-type 5. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCGCTCCGAACCAGTGGAAC 0.443000 28 57 0 0 0.000409698 0 0 RP1 6101 broad.mit.edu 37 8 55541024 55541024 + Missense_Mutation SNP A A T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:55541024A>T ENST00000220676.1 + 4 4730 c.4582A>T c.(4582-4584)Atc>Ttc p.I1528F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1528 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) TTATGAAATAATCAGTAAGAG 0.328000 14 13 0 0 0.000308642 0 0 FADS2 9415 broad.mit.edu 37 11 61631244 61631244 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:61631244C>T ENST00000278840.4 + 10 1773 c.1143C>T c.(1141-1143)ttC>ttT p.F381F FADS2_ENST00000521849.1_Silent_p.F381F|FADS2_ENST00000522056.1_Silent_p.F350F|FADS2_ENST00000257261.6_Silent_p.F359F NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 381 NF -> SL (in Ref. 4; BAB55167). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) ACCTTAACTTCCAGATTGAGC 0.602000 10 19 0 0 0.00136819 0 0 TTN 7273 broad.mit.edu 37 2 179526509 179526509 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179526509T>C ENST00000589042.1 - 180 37486 c.37262A>G c.(37261-37263)aAg>aGg p.K12421R TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10611 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) GACTTCAGGCTTTTTAGGAGG 0.378000 11 19 0 0 0.00136819 0 0 CDH16 1014 broad.mit.edu 37 16 66944275 66944275 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:66944275G>A ENST00000299752.4 - 15 2248 c.2055C>T c.(2053-2055)atC>atT p.I685I CDH16_ENST00000570262.1_Silent_p.I605I|CDH16_ENST00000565796.1_Silent_p.I646I|CDH16_ENST00000394055.3_Silent_p.I663I|CDH16_ENST00000568632.1_Silent_p.I588I NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 685 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTCCACTCACGATCAAGCCAT 0.637000 29 56 0 0 0.000491102 0 0 CREBZF 58487 broad.mit.edu 37 11 85375599 85375599 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:85375599C>T ENST00000527447.1 - 1 547 c.321G>A c.(319-321)ctG>ctA p.L107L CREBZF_ENST00000398294.2_Silent_p.L25L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 107 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GGAGATCCGCCAGTTCCAGCC 0.697000 47 50 0 0 0.000781405 0 0 CD8B 926 broad.mit.edu 37 2 87085475 87085475 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:87085475C>T ENST00000390655.6 - 2 166 c.108G>A c.(106-108)atG>atA p.M36I CD8B_ENST00000349455.3_Missense_Mutation_p.M36I|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.M36I|CD8B_ENST00000393759.2_Missense_Mutation_p.M36I|CD8B_ENST00000393761.2_Missense_Mutation_p.M36I NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule 36 Ig-like V-type. immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 ACAGCATCACCATCTTGTTGG 0.512000 29 42 0 0 0.000692331 0 0 AMY2A 279 broad.mit.edu 37 1 104160630 104160630 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:104160630G>A ENST00000414303.2 + 2 287 c.223G>A c.(223-225)Gaa>Aaa p.E75K NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 75 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ACCTTGGTGGGAAAGATACCA 0.358000 48 60 0 0 0.000781405 0 0 EPN1 29924 broad.mit.edu 37 19 56206167 56206167 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:56206167C>T ENST00000411543.2 + 10 2145 c.1598C>T c.(1597-1599)tCt>tTt p.S533F EPN1_ENST00000270460.6_Missense_Mutation_p.S447F|EPN1_ENST00000085079.7_Missense_Mutation_p.S421F NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 447 3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GTCAGGGGATCTCTGGCTGAG 0.687000 10 20 0 0 0.000673444 0 0 TYRO3 7301 broad.mit.edu 37 15 41870298 41870298 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:41870298G>A ENST00000263798.3 + 19 2721 c.2497G>A c.(2497-2499)Gat>Aat p.D833N TYRO3_ENST00000559066.1_Missense_Mutation_p.D788N NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 833 integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TGGGGCTGGGGATGGCAGTGG 0.647000 8 20 0 0 0.000274275 0 0 FRRS1 391059 broad.mit.edu 37 1 100212969 100212969 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:100212969G>A ENST00000414213.1 - 4 815 c.214C>T c.(214-216)Cca>Tca p.P72S FRRS1_ENST00000287474.5_Missense_Mutation_p.P72S Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 72 Reelin. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CCTTTAAATGGATGCCCTGAC 0.368000 56 68 0 0 0.000781405 0 0 NBR1 4077 broad.mit.edu 37 17 41343492 41343492 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:41343492C>T ENST00000422280.1 + 10 1426 c.967C>T c.(967-969)Ctt>Ttt p.L323F NBR1_ENST00000542611.1_Missense_Mutation_p.L302F|NBR1_ENST00000590996.1_Missense_Mutation_p.L323F|NBR1_ENST00000589872.1_Missense_Mutation_p.L323F|NBR1_ENST00000389312.4_Missense_Mutation_p.L323F|NBR1_ENST00000341165.6_Missense_Mutation_p.L323F NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 323 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TAAAAAGCAGCTTAAACTCCA 0.438000 10 12 0 0 0.000673444 0 0 PSG1 5669 broad.mit.edu 37 19 43376041 43376041 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:43376041G>A ENST00000244296.2 - 3 724 c.587C>T c.(586-588)tCc>tTc p.S196F PSG1_ENST00000312439.6_Missense_Mutation_p.S196F|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.S196F|PSG1_ENST00000436291.2_Missense_Mutation_p.S196F NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GTTGGTTTCGGACAGCTTCAA 0.522000 82 102 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 41465764 41465764 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41465764G>A ENST00000400454.1 - 21 4211 c.3734C>T c.(3733-3735)tCc>tTc p.S1245F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1245 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.S1245F(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AATTCTGTAGGAAAACGAGTC 0.483000 5 17 0 0 0.000602214 0 0 ABCA11P 79963 broad.mit.edu 37 4 420088 420088 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:420088G>A ENST00000451020.2 - 0 950 NR_002451.2 TGAACAGCTCGTCTAGAAGCA 0.527000 15 17 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179638821 179638821 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179638821G>A ENST00000589042.1 - 31 7298 c.7074C>T c.(7072-7074)atC>atT p.I2358I TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.I2312I|TTN_ENST00000342175.6_Silent_p.I2312I|TTN_ENST00000360870.5_Silent_p.I2358I|TTN_ENST00000460472.2_Silent_p.I2312I|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Silent_p.I2358I|TTN_ENST00000342992.6_Silent_p.I2358I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2080 Ig-like 13. 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) GTCCTTGTAGGATAGCAATGG 0.423000 12 33 0 0 0.000308642 0 0 MGAM 8972 broad.mit.edu 37 7 141765211 141765211 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:141765211G>A ENST00000475668.2 + 38 4615 c.4561G>A c.(4561-4563)Gga>Aga p.G1521R MGAM_ENST00000549489.2_Missense_Mutation_p.G1521R O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1521 Glucoamylase. 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) CCGCTGGGCAGGACATTGGCT 0.622000 4 2 0 0 0.00116845 0 0 FBN2 2201 broad.mit.edu 37 5 127624855 127624855 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:127624855C>A ENST00000508053.1 - 58 7575 c.6601G>T c.(6601-6603)Ggc>Tgc p.G2201C FBN2_ENST00000262464.4_Missense_Mutation_p.G2201C P35556 FBN2_HUMAN fibrillin 2 2201 EGF-like 36; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGGTTGTAGCCCATTGGACAT 0.403000 23 33 6.32553e-13 4.06115e-12 0.000720815 1 0 C8orf82 414919 broad.mit.edu 37 8 145753065 145753065 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:145753065G>A ENST00000524821.1 - 3 527 c.312C>T c.(310-312)ttC>ttT p.F104F C8orf82_ENST00000313465.5_3'UTR Q6P1X6 CH082_HUMAN chromosome 8 open reading frame 82 104 endometrium(1)|urinary_tract(1) 2 CGCAGCGCAGGAAGTTGCGCT 0.706000 5 2 0 0 0.000602214 0 0 RP1 6101 broad.mit.edu 37 8 55541533 55541533 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:55541533G>A ENST00000220676.1 + 4 5239 c.5091G>A c.(5089-5091)caG>caA p.Q1697Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1697 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) AGGAATTCCAGGAGGAAAGAC 0.403000 27 49 0 0 0.00127121 0 0 LSAMP 4045 broad.mit.edu 37 3 115561418 115561418 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:115561418G>A ENST00000490035.1 - 5 1156 c.657C>T c.(655-657)ccC>ccT p.P219P LSAMP_ENST00000539563.1_Silent_p.P216P|LSAMP_ENST00000498645.1_5'UTR NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 219 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CTGTGATAGTGGGAGGATCTG 0.488000 30 32 0 0 0.00111076 0 0 KLHL14 57565 broad.mit.edu 37 18 30257204 30257204 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:30257204G>A ENST00000359358.4 - 8 2116 c.1678C>T c.(1678-1680)Cga>Tga p.R560* NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 560 cytosol|endoplasmic reticulum membrane p.R560*(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GGGCCACTTCGACCCTCCAAA 0.478000 20 22 0 0 0.000958276 0 0 EVX2 344191 broad.mit.edu 37 2 176948122 176948122 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:176948122G>A ENST00000308618.4 - 1 519 c.383C>T c.(382-384)cCc>cTc p.P128L NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 128 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GAGGCCCCCGGGGGAGCGAAG 0.687000 6 13 0 0 8.12818e-05 0 0 NUTM1 256646 broad.mit.edu 37 15 34647860 34647860 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:34647860C>T ENST00000537011.1 + 8 2033 c.1651C>T c.(1651-1653)Ctt>Ttt p.L551F NUTM1_ENST00000438749.3_Missense_Mutation_p.L541F|NUTM1_ENST00000333756.4_Missense_Mutation_p.L523F NUT midline carcinoma, family member 1 CGCCGCTTGCCTTGGAAAGGT 0.587000 44 52 0 0 0.000781405 0 0 COL16A1 1307 broad.mit.edu 37 1 32167755 32167755 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:32167755G>A ENST00000373672.3 - 2 556 c.40C>T c.(40-42)Ctt>Ttt p.L14F COL16A1_ENST00000271069.6_Missense_Mutation_p.L14F|COL16A1_ENST00000373668.3_Missense_Mutation_p.L14F NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 14 cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GTAGCCCAAAGACCGAGCAGC 0.592000 26 24 0 0 0.00127121 0 0 MS4A4A 51338 broad.mit.edu 37 11 60068515 60068515 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:60068515A>G ENST00000355131.3 + 5 538 c.315A>G c.(313-315)agA>agG p.R105R MS4A4A_ENST00000532114.1_Silent_p.R124R|MS4A4A_ENST00000337908.4_Silent_p.R124R|MS4A4A_ENST00000395016.3_Silent_p.R105R NM_024021.3 NP_076926.2 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 124 integral to membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 CAGGAATTAGAACTACAAAAG 0.313000 20 23 0 0 0.000295444 0 0 FOXN3 1112 broad.mit.edu 37 14 89629234 89629234 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:89629234C>T ENST00000345097.4 - 7 1113 c.997G>A c.(997-999)Gag>Aag p.E333K FOXN3_ENST00000557258.1_Missense_Mutation_p.E311K|FOXN3_ENST00000555353.1_Missense_Mutation_p.E311K|FOXN3_ENST00000261302.5_Missense_Mutation_p.E333K NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 333 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TTGTGATCCTCCTTGGGGTCT 0.627000 8 16 0 0 0.000274275 0 0 GRIN2B 2904 broad.mit.edu 37 12 13768519 13768519 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:13768519T>C ENST00000279593.3 - 6 1617 c.1408A>G c.(1408-1410)Aaa>Gaa p.K470E NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 470 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) TTCACAGATTTAGAAATTTTC 0.398000 145 27 0 0 0.000781405 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291569 141291569 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:141291569C>T ENST00000247452.3 - 3 552 c.205G>A c.(205-207)Gag>Aag p.E69K NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 69 Poly-Glu. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GGCACCTCCTCCTCCTCAGGA 0.537000 HNSCC(46;0.14) 27 1 0 0 0.000586117 0 0 USP6 9098 broad.mit.edu 37 17 5058756 5058756 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:5058756C>T ENST00000574788.1 + 31 4913 c.2683C>T c.(2683-2685)Cgc>Tgc p.R895C USP6_ENST00000250066.6_Missense_Mutation_p.R895C|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R578C P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 895 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCAGGAGAATCGCCCCAGCCT 0.458000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 37 55 0 0 0.000509022 0 0 COL4A5 1287 broad.mit.edu 37 X 107834829 107834829 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:107834829G>A ENST00000328300.6 + 21 1622 c.1378G>A c.(1378-1380)Gga>Aga p.G460R COL4A5_ENST00000361603.2_Missense_Mutation_p.G460R NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 460 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGCCCCCCAGGATCTCCAGG 0.398000 Alport syndrome with Diffuse Leiomyomatosis 42 6 0 0 0.000781405 0 0 MKL1 57591 broad.mit.edu 37 22 40827438 40827438 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:40827438G>A ENST00000396617.3 - 6 700 c.110C>T c.(109-111)tCg>tTg p.S37L MKL1_ENST00000407029.1_Missense_Mutation_p.S37L|MKL1_ENST00000402630.1_Missense_Mutation_p.S37L|MKL1_ENST00000402042.1_Missense_Mutation_p.S37L|MKL1_ENST00000355630.3_Missense_Mutation_p.S37L Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 37 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GACCAGCTCCGATCTCTCCGG 0.473000 T RBM15 acute megakaryocytic leukemia 100 131 0 0 0.000781405 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282952 140282952 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:140282952G>A ENST00000458420.3 + 16 2822 c.2632G>A c.(2632-2634)Gat>Aat p.D878N NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 878 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGACTGGGACGATTCTGCGCT 0.582000 HNSCC(16;0.037) 42 23 0 0 0.000781405 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172218 21172218 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:21172218G>A ENST00000421593.2 + 2 122 c.122G>A c.(121-123)gGa>gAa p.G41E LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 AGTTACTTTGGATCTAAACTA 0.313000 21 6 0 0 0.00152264 0 0 ADRA1A 148 broad.mit.edu 37 8 26721843 26721843 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:26721843C>T ENST00000380573.3 - 2 1667 c.644G>A c.(643-645)aGc>aAc p.S215N ADRA1A_ENST00000380587.1_Missense_Mutation_p.S215N|ADRA1A_ENST00000380586.1_Missense_Mutation_p.S215N|ADRA1A_ENST00000519229.1_Missense_Mutation_p.S215N|ADRA1A_ENST00000380572.3_Missense_Mutation_p.S215N|ADRA1A_ENST00000358857.5_Missense_Mutation_p.S215N|ADRA1A_ENST00000380581.2_Missense_Mutation_p.S215N|ADRA1A_ENST00000380582.3_Missense_Mutation_p.S215N|ADRA1A_ENST00000354550.4_Missense_Mutation_p.S215N|ADRA1A_ENST00000276393.4_Missense_Mutation_p.S215N P35348 ADA1A_HUMAN adrenoceptor alpha 1A 215 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GAGGCCCCGGCTCTCCCTCTT 0.637000 9 12 0 0 0.000442599 0 0 PIGO 84720 broad.mit.edu 37 9 35093191 35093191 + Missense_Mutation SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:35093191G>T ENST00000378617.3 - 6 1349 c.955C>A c.(955-957)Cct>Act p.P319T PIGO_ENST00000341666.3_Missense_Mutation_p.P319T|PIGO_ENST00000298004.5_Missense_Mutation_p.P319T|PIGO_ENST00000361778.2_Missense_Mutation_p.P319T NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 319 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTAACTTGAGGAATCACCTCT 0.522000 21 4 1.85244e-09 1.18242e-08 0.00047179 1 0 TRAT1 50852 broad.mit.edu 37 3 108568024 108568024 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:108568024G>A ENST00000295756.6 + 5 456 c.226G>A c.(226-228)Gaa>Aaa p.E76K TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 76 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ACCAATGGATGAAAATTGCTA 0.343000 20 33 0 0 0.000375601 0 0 GRID1 2894 broad.mit.edu 37 10 87484319 87484319 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:87484319C>T ENST00000327946.7 - 11 1733 c.1648G>A c.(1648-1650)Gag>Aag p.E550K GRID1_ENST00000536331.1_Missense_Mutation_p.E121K NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 550 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGATTTTCTCCTCGGGCTTC 0.502000 Multiple Myeloma(13;0.14) 19 26 0 0 0.00152264 0 0 PRSS1 5644 broad.mit.edu 37 7 142459835 142459835 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142459835G>A ENST00000486171.1 + 4 470 c.453G>A c.(451-453)acG>acA p.T151T PRSS1_ENST00000311737.7_Silent_p.T137T P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 137 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.T137T(2) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCACTGGCACGAAGTGCCTCA 0.552000 26 41 0 0 0.00106085 0 0 CLDN11 5010 broad.mit.edu 37 3 170150515 170150515 + Missense_Mutation SNP C C T rs144303681 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:170150515C>T ENST00000064724.3 + 3 797 c.595C>T c.(595-597)Ccg>Tcg p.P199S CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000489485.1_3'UTR NM_005602.5 NP_005593.2 O75508 CLD11_HUMAN claudin 11 199 RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) CTCTAGCTCCCCGACTCATGC 0.607000 28 35 0 0 0.000409698 0 0 PPFIA4 8497 broad.mit.edu 37 1 203029523 203029523 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:203029523C>T ENST00000367240.2 + 21 3226 c.2699C>T c.(2698-2700)tCt>tTt p.S900F PPFIA4_ENST00000295706.4_Missense_Mutation_p.S415F|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S415F|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S899F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S628F|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S415F O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 415 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 ACCAGCCCCTCTGCCCCACCC 0.592000 53 37 0 0 0.000781405 0 0 DEFB118 117285 broad.mit.edu 37 20 29960908 29960908 + Missense_Mutation SNP G G C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:29960908G>C ENST00000253381.2 + 2 340 c.307G>C c.(307-309)Gtt>Ctt p.V103L NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 103 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GAAAGATATGGTTGAAGAGTC 0.458000 23 39 0 0 0.000586117 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102493981 102493981 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:102493981G>A ENST00000321521.9 + 15 2152 c.1579G>A c.(1579-1581)Gga>Aga p.G527R PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.G527R|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.G527R O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 527 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TGAAGAACTTGGAAGAGCCTT 0.388000 7 15 0 0 8.12818e-05 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159605602 159605602 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:159605602G>A ENST00000337808.6 + 5 1679 c.1102G>A c.(1102-1104)Gcc>Acc p.A368T IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.A417T|SCHIP1_ENST00000482804.1_Missense_Mutation_p.A141T|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.A444T|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.A328T|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.A355T|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.A136T|SCHIP1_ENST00000445224.2_Missense_Mutation_p.A125T NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 368 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 GCAAGCTGAAGCCAAAATGGC 0.448000 48 71 0 0 0.000680045 0 0 BICC1 80114 broad.mit.edu 37 10 60562907 60562907 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:60562907C>T ENST00000373886.3 + 15 2090 c.2086C>T c.(2086-2088)Cca>Tca p.P696S BICC1_ENST00000263103.1_Missense_Mutation_p.P322S NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 696 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 CAAGAAGGCTCCAGGGAGTGA 0.532000 13 12 0 0 0.000308642 0 0 ZNF554 115196 broad.mit.edu 37 19 2827625 2827625 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:2827625C>T ENST00000317243.5 + 3 335 c.137C>T c.(136-138)aCc>aTc p.T46I ZNF554_ENST00000591265.1_Missense_Mutation_p.T46I NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAATTAGTAACCTTTGAGGAC 0.537000 27 44 0 0 0.000878237 0 0 TGM7 116179 broad.mit.edu 37 15 43568793 43568793 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:43568793C>T ENST00000452443.2 - 13 1997 c.1993G>A c.(1993-1995)Gga>Aga p.G665R NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 665 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AGGGTGTGTCCGGCCACCAGA 0.592000 34 56 0 0 0.00170553 0 0 FBXO40 51725 broad.mit.edu 37 3 121342150 121342150 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:121342150G>A ENST00000338040.4 + 3 2288 c.1874G>A c.(1873-1875)aGg>aAg p.R625K NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 625 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AAGAAAAAGAGGTATTCCCAT 0.428000 29 49 0 0 0.001512 0 0 LILRB3 11025 broad.mit.edu 37 19 54725813 54725813 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:54725813G>A ENST00000391750.1 - 5 681 c.545C>T c.(544-546)cCt>cTt p.P182L LILRB3_ENST00000407860.2_Missense_Mutation_p.P182L|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.P182L|LILRB3_ENST00000245620.9_Missense_Mutation_p.P182L|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.P182L O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 182 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGCCCACAGGGAACAGGGC 0.592000 8 11 0 0 0.000219431 0 0 EMC1 23065 broad.mit.edu 37 1 19567577 19567577 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:19567577C>T ENST00000477853.1 - 6 611 c.569G>A c.(568-570)gGa>gAa p.G190E EMC1_ENST00000375208.3_Missense_Mutation_p.G168E|EMC1_ENST00000375199.3_Missense_Mutation_p.G190E NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 GGGAACAACTCCGAGGGCCCA 0.507000 OREG0013169 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 59 0 0 0.000491102 0 0 BCL11A 53335 broad.mit.edu 37 2 60689430 60689430 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:60689430G>A ENST00000335712.6 - 4 844 c.617C>T c.(616-618)cCc>cTc p.P206L BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.P54L|BCL11A_ENST00000359629.5_Missense_Mutation_p.P206L|BCL11A_ENST00000358510.4_Missense_Mutation_p.P172L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P172L|BCL11A_ENST00000356842.4_Missense_Mutation_p.P206L NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 206 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGGGGTCAGGGGACTTCCGTG 0.488000 T IGH@ B-CLL 172 230 0 0 0.000781405 0 0 MAP1B 4131 broad.mit.edu 37 5 71493252 71493252 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:71493252C>T ENST00000296755.7 + 5 4368 c.4070C>T c.(4069-4071)cCa>cTa p.P1357L NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1357 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GAAAAACCACCAGCAGTTCCA 0.483000 28 39 0 0 0.001512 0 0 TNKS2 80351 broad.mit.edu 37 10 93582121 93582121 + Splice_Site SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:93582121T>C ENST00000371627.4 + 7 1174 c.e7+2 NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) TTGGTCAAGGTTAGTGCTCTT 0.343000 53 70 0 0 0.000781405 0 0 HEATR1 55127 broad.mit.edu 37 1 236761208 236761208 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:236761208G>A ENST00000366582.3 - 5 687 c.573C>T c.(571-573)ttC>ttT p.F191F HEATR1_ENST00000366581.2_Silent_p.F191F|HEATR1_ENST00000483073.1_5'UTR NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 191 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACTGCAAATGAAATCCATGA 0.353000 47 35 0 0 0.000781405 0 0 LIPC 3990 broad.mit.edu 37 15 58855876 58855876 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:58855876C>T ENST00000414170.3 + 9 1629 c.1342C>T c.(1342-1344)Ctc>Ttc p.L448F LIPC_ENST00000356113.6_Missense_Mutation_p.L448F|LIPC_ENST00000433326.2_Missense_Mutation_p.L387F|LIPC_ENST00000299022.5_Missense_Mutation_p.L448F P11150 LIPC_HUMAN lipase, hepatic 448 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CCACTCAGGCCTCGTTCTGAA 0.527000 6 14 0 0 0.00116845 0 0 OR5M1 390168 broad.mit.edu 37 11 56380880 56380880 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:56380880C>T ENST00000526538.1 - 1 98 c.99G>A c.(97-99)gcG>gcA p.A33A NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TTAGGTAGATCGCAAGGAATA 0.493000 14 17 0 0 0.00185496 0 0 DSCAM 1826 broad.mit.edu 37 21 41465660 41465660 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:41465660G>A ENST00000400454.1 - 21 4315 c.3838C>T c.(3838-3840)Cca>Tca p.P1280S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1280 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTTGCTAGTGGCTCGACTGTG 0.443000 5 8 0 0 0.00116845 0 0 CDCP2 200008 broad.mit.edu 37 1 54610383 54610383 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:54610383C>T ENST00000371330.1 - 2 1030 c.183G>A c.(181-183)gtG>gtA p.V61V RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 61 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CCTCGGCCACCACGATCAGCC 0.557000 9 21 0 0 0.000673444 0 0 TENM2 57451 broad.mit.edu 37 5 167626893 167626893 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:167626893C>T ENST00000519204.1 + 16 2942 c.2824C>T c.(2824-2826)Cct>Tct p.P942S TENM2_ENST00000403607.2_Missense_Mutation_p.P887S|TENM2_ENST00000520394.1_Missense_Mutation_p.P831S|TENM2_ENST00000518659.1_Missense_Mutation_p.P1063S|TENM2_ENST00000545108.1_Missense_Mutation_p.P1063S teneurin transmembrane protein 2 AATCGAGCTCCCTGGTTCCAA 0.493000 64 90 0 0 0.000781405 0 0 CD2AP 23607 broad.mit.edu 37 6 47541942 47541942 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:47541942G>A ENST00000359314.5 + 6 1140 c.684G>A c.(682-684)cgG>cgA p.R228R NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 228 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) TGAAACTTCGGACAAGAACAT 0.373000 59 43 0 0 0.000781405 0 0 TRPC1 7220 broad.mit.edu 37 3 142503749 142503749 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:142503749C>T ENST00000273482.6 + 6 1453 c.1062C>T c.(1060-1062)atC>atT p.I354I TRPC1_ENST00000476941.1_Silent_p.I388I NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 388 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 TGAAATTTATCATTCATGGAG 0.373000 14 17 0 0 0.000219431 0 0 PLCXD3 345557 broad.mit.edu 37 5 41313873 41313873 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:41313873C>T ENST00000377801.3 - 3 887 c.e3-1 PLCXD3_ENST00000328457.3_Splice_Site Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGGAAGAGCTCTGAGAAAGGA 0.408000 8 16 0 0 0.000274275 0 0 C14orf39 317761 broad.mit.edu 37 14 60923639 60923639 + Missense_Mutation SNP C C T rs147627198 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:60923639C>T ENST00000321731.3 - 15 1513 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 452 p.E452K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCCTACATTTCGAACGGGGGG 0.318000 20 29 0 0 0.00121646 0 0 FAAH2 158584 broad.mit.edu 37 X 57473420 57473420 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:57473420G>A ENST00000374900.4 + 9 1296 c.1176G>A c.(1174-1176)tgG>tgA p.W392* FAAH2_ENST00000491179.1_Intron NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 392 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GTCCTCTGTGGGAGTTGATCA 0.393000 HNSCC(52;0.14) 5 0 0 0 0.00116845 0 0 ZNF814 730051 broad.mit.edu 37 19 58384955 58384955 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58384955C>T ENST00000435989.2 - 3 2037 c.1803G>A c.(1801-1803)gaG>gaA p.E601E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 601 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 CATAAGGCCTCTCTCCAGTAT 0.473000 23 14 0 0 0.000720815 0 0 RGL1 23179 broad.mit.edu 37 1 183881362 183881362 + Missense_Mutation SNP C C T rs1140534 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:183881362C>T ENST00000304685.3 + 16 2275 c.1814C>T c.(1813-1815)tCc>tTc p.S605F RGL1_ENST00000367531.1_Missense_Mutation_p.S605F|RGL1_ENST00000539189.1_Missense_Mutation_p.S541F|RGL1_ENST00000536277.1_Missense_Mutation_p.S568F|RGL1_ENST00000360851.3_Missense_Mutation_p.S570F NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 570 Ser-rich. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GAGGAGGGCTCCATTACTCCC 0.532000 25 18 0 0 0.000586117 0 0 ODF2L 57489 broad.mit.edu 37 1 86818611 86818611 + Silent SNP T T G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:86818611T>G ENST00000359242.3 - 17 2105 c.1824A>C c.(1822-1824)atA>atC p.I608I ODF2L_ENST00000370567.1_Silent_p.I579I|ODF2L_ENST00000317336.7_Silent_p.I608I|ODF2L_ENST00000370566.3_Silent_p.I526I|ODF2L_ENST00000394731.1_Silent_p.I448I|ODF2L_ENST00000294678.2_Silent_p.I592I NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 608 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) CCAGATCTAATATTTTAATTT 0.274000 15 11 0 0 0.000219431 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149214868 149214868 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:149214868C>T ENST00000309241.5 + 7 1779 c.1747C>T c.(1747-1749)Cca>Tca p.P583S PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P583S|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P519S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P544S NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 583 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CACCAGCGACCCAACTTTTGG 0.587000 35 88 0 0 0.000953801 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146401 5146401 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:5146401C>T ENST00000274181.7 + 3 472 c.334C>T c.(334-336)Ctg>Ttg p.L112L CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Silent_p.L112L NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 112 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CCACATGGATCTGAGGACTTC 0.552000 23 44 0 0 0.000720815 0 0 CLUL1 27098 broad.mit.edu 37 18 624990 624990 + Silent SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:624990T>A ENST00000581619.1 + 4 1303 c.456T>A c.(454-456)atT>atA p.I152I CLUL1_ENST00000400606.2_Silent_p.I127I|CLUL1_ENST00000579494.1_Silent_p.I127I|CLUL1_ENST00000540035.1_Silent_p.I179I|CLUL1_ENST00000338387.7_Silent_p.I127I|CLUL1_ENST00000580436.1_3'UTR Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 127 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 GCATGAGAATTTATACAACCT 0.438000 15 31 0 0 0.000422831 0 0 TBC1D32 221322 broad.mit.edu 37 6 121560234 121560234 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:121560234A>G ENST00000275159.6 - 20 2345 c.2346T>C c.(2344-2346)atT>atC p.I782I TBC1D32_ENST00000398212.2_Silent_p.I782I TBC1 domain family, member 32 AGCTTCGGTCAATAGGATCCA 0.338000 33 19 0 0 0.000491102 0 0 BCR 613 broad.mit.edu 37 22 23615826 23615826 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:23615826G>A ENST00000305877.8 + 8 2731 c.1980G>A c.(1978-1980)ttG>ttA p.L660L BCR_ENST00000359540.3_Silent_p.L660L NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 660 DH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GGCAGGACTTGCTGAAGCACA 0.572000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 21 38 0 0 0.00047179 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12955423 12955423 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:12955423C>T ENST00000235347.4 - 2 335 c.256G>A c.(256-258)Gat>Aat p.D86N NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 86 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 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;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCAGTGTATCAAGTCCCCTC 0.607000 16 6 0 0 0.000566183 0 0 WBP2NL 164684 broad.mit.edu 37 22 42415416 42415416 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:42415416C>T ENST00000328823.9 + 2 195 c.164C>T c.(163-165)tCa>tTa p.S55L NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 55 GRAM. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 TTTCTCACTTCATACCGGGTA 0.383000 33 34 0 0 0.00058488 0 0 BCAS1 8537 broad.mit.edu 37 20 52601967 52601967 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr20:52601967G>A ENST00000395961.3 - 7 1165 c.999C>T c.(997-999)acC>acT p.T333T BCAS1_ENST00000434986.2_Silent_p.T91T|BCAS1_ENST00000371435.2_Silent_p.T333T|BCAS1_ENST00000371440.3_Silent_p.T378T NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 333 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CAGCCCCTTGGGTCTCCTGGG 0.498000 38 51 0 0 0.000509022 0 0 TBC1D32 221322 broad.mit.edu 37 6 121560297 121560297 + Silent SNP A A G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:121560297A>G ENST00000275159.6 - 20 2282 c.2283T>C c.(2281-2283)aaT>aaC p.N761N TBC1D32_ENST00000398212.2_Silent_p.N761N TBC1 domain family, member 32 CATATTCCAGATTGGACCATA 0.333000 27 19 0 0 0.001512 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555149 44555149 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:44555149C>T ENST00000330682.2 - 1 1300 c.1065G>A c.(1063-1065)gtG>gtA p.V355V KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 355 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGACCCCTTCCACGTCGCCGA 0.647000 23 312 0 0 0.00106085 0 0 COL4A6 1288 broad.mit.edu 37 X 107437780 107437780 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:107437780C>T ENST00000334504.7 - 16 1219 c.986G>A c.(985-987)gGa>gAa p.G329E COL4A6_ENST00000538570.1_Missense_Mutation_p.G329E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G330E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G330E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G329E NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 330 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TCCTTGGAATCCATTAAGCCC 0.403000 Alport syndrome with Diffuse Leiomyomatosis 82 19 0 0 0.000781405 0 0 OR2M5 127059 broad.mit.edu 37 1 248308997 248308997 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248308997C>T ENST00000366476.1 + 1 548 c.548C>T c.(547-549)tCc>tTc p.S183F NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GACTTCCCTTCCCTACTAATC 0.418000 33 78 0 0 0.000692331 0 0 WDR33 55339 broad.mit.edu 37 2 128474766 128474766 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:128474766G>A ENST00000322313.4 - 17 2990 c.2832C>T c.(2830-2832)ccC>ccT p.P944P NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 944 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGTTCAGAGGGGGAATGCGAC 0.488000 9 13 0 0 0.000673444 0 0 AKT3 10000 broad.mit.edu 37 1 243675635 243675635 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:243675635G>A ENST00000366539.1 - 13 1545 c.1345C>T c.(1345-1347)Cct>Tct p.P449S AKT3_ENST00000366540.1_Missense_Mutation_p.P449S|AKT3_ENST00000336199.5_Missense_Mutation_p.P449S|AKT3_ENST00000263826.5_Missense_Mutation_p.P449S Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 449 AGC-kinase C-terminal. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CATTTTTCAGGTGGTGTTATT 0.284000 18 54 0 0 0.000566183 0 0 SDPR 8436 broad.mit.edu 37 2 192701073 192701073 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:192701073C>T ENST00000304141.4 - 2 1183 c.854G>A c.(853-855)gGa>gAa p.G285E NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 285 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GGAGCTTTTTCCTGAGGATAT 0.458000 73 83 0 0 0.000781405 0 0 LRCH4 4034 broad.mit.edu 37 7 100175319 100175319 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:100175319G>A ENST00000310300.6 - 9 1136 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 362 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCTCCCCGGGGACATGGCTG 0.662000 45 74 0 0 0.000781405 0 0 MYO3A 53904 broad.mit.edu 37 10 26463421 26463421 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:26463421G>A ENST00000265944.5 + 30 4394 c.4228G>A c.(4228-4230)Gat>Aat p.D1410N MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1410 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAGAAGAAGGATAACAAAGA 0.323000 36 66 0 0 0.00111076 0 0 PKP2 5318 broad.mit.edu 37 12 33030884 33030884 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:33030884C>T ENST00000340811.4 - 3 1038 c.930G>A c.(928-930)gtG>gtA p.V310V PKP2_ENST00000070846.6_Silent_p.V310V NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 310 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CGCTGGAATCCACGGCGACAC 0.637000 27 2 0 0 0.001512 0 0 BRSK2 9024 broad.mit.edu 37 11 1432751 1432751 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:1432751G>A ENST00000382179.1 + 1 370 c.117G>A c.(115-117)ggG>ggA p.G39G BRSK2_ENST00000528710.1_Intron|BRSK2_ENST00000526678.1_Intron|BRSK2_ENST00000531197.1_Intron|BRSK2_ENST00000308230.5_Intron|BRSK2_ENST00000528841.1_Intron|BRSK2_ENST00000308219.9_Intron NM_001256630.1 NP_001243559.1 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 8 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GCAGGGGAGGGGCCGCACATC 0.701000 17 2 0 0 0.000566183 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107569 6107569 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:6107569C>T ENST00000409021.3 - 3 704 c.255G>A c.(253-255)caG>caA p.Q85Q JAKMIP1_ENST00000409831.1_Silent_p.Q85Q|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Silent_p.Q85Q|JAKMIP1_ENST00000410077.2_Intron NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 85 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGCGCAGCGCCTGCAGCTCCT 0.677000 19 21 0 0 0.00188189 0 0 DEFA5 1670 broad.mit.edu 37 8 6914065 6914065 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:6914065G>A ENST00000330590.2 - 1 191 c.155C>T c.(154-156)tCt>tTt p.S52F NM_021010.1 NP_066290.1 Q01523 DEF5_HUMAN defensin, alpha 5, Paneth cell-specific 52 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TCTAAGAGCAGAGAGTCCATT 0.473000 56 63 0 0 0.000781405 0 0 IFNLR1 163702 broad.mit.edu 37 1 24495953 24495953 + Silent SNP G G A rs141902174 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:24495953G>A ENST00000327535.1 - 3 333 c.321C>T c.(319-321)tcC>tcT p.S107S IFNLR1_ENST00000374419.1_Silent_p.S24S|IFNLR1_ENST00000374418.3_Silent_p.S107S|IFNLR1_ENST00000327575.2_Silent_p.S107S|IFNLR1_ENST00000374421.3_Silent_p.S107S NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 AGGGGGACTTGGAGCTGGGAG 0.547000 21 27 0 0 0.00188189 0 0 SMPD4 55627 broad.mit.edu 37 2 130930247 130930247 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:130930247G>A ENST00000409031.1 - 7 1723 c.575C>T c.(574-576)cCg>cTg p.P192L SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.P119L|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.P79L|SMPD4_ENST00000351288.6_Missense_Mutation_p.P192L|SMPD4_ENST00000426662.2_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 153 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) atactcGAACGGATCTGAGAG 0.587000 29 56 0 0 0.000339439 0 0 FRMPD2 143162 broad.mit.edu 37 10 49444537 49444537 + Silent SNP C C T rs148563650 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:49444537C>T ENST00000374201.3 - 9 1283 c.981G>A c.(979-981)ccG>ccA p.P327P FRMPD2_ENST00000305531.3_Silent_p.P303P|FRMPD2_ENST00000407470.4_Silent_p.P296P NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 327 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CAACCGATCCCGGCAGATGTA 0.552000 26 37 0 0 0.000409698 0 0 BRWD1 54014 broad.mit.edu 37 21 40649245 40649245 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr21:40649245G>A ENST00000342449.3 - 11 1114 c.1036C>T c.(1036-1038)Cat>Tat p.H346Y BRWD1_ENST00000333229.2_Missense_Mutation_p.H346Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.H346Y NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTGATTACATGATCAGTACTA 0.333000 13 22 0 0 0.000219431 0 0 ZNF417 147687 broad.mit.edu 37 19 58420218 58420218 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:58420218C>T ENST00000312026.5 - 3 1592 c.1428G>A c.(1426-1428)aaG>aaA p.K476K CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.K277K|ZNF417_ENST00000595559.1_Silent_p.K475K NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) TCACGCAGTTCTTATTACCAA 0.408000 45 54 0 0 0.000781405 0 0 CBLB 868 broad.mit.edu 37 3 105438891 105438891 + Splice_Site SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:105438891C>T ENST00000264122.4 - 10 1728 c.1407_splice c.e10+1 p.K469_splice CBLB_ENST00000394027.3_Splice_Site_p.K491_splice|CBLB_ENST00000405772.1_Splice_Site_p.K469_splice|CBLB_ENST00000403724.1_Splice_Site_p.K469_splice NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 469 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTAGTTTTACCTTTCGGACGT 0.438000 Mis S AML 10 8 0 0 0.000978159 0 0 ACSM1 116285 broad.mit.edu 37 16 20702464 20702464 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:20702464G>A ENST00000307493.4 - 1 114 c.47C>T c.(46-48)tCc>tTc p.S16F ACSM1_ENST00000520010.1_Missense_Mutation_p.S16F|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 16 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 GTTGTGGAAGGATTTGTGGAT 0.522000 44 61 0 0 0.000781405 0 0 OR2T1 26696 broad.mit.edu 37 1 248570104 248570104 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:248570104G>A ENST00000366474.1 + 1 809 c.809G>A c.(808-810)cGa>cAa p.R270Q NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCTATGCCCGAATCCTGACT 0.507000 10 27 0 0 0.000673444 0 0 ADARB2 105 broad.mit.edu 37 10 1262904 1262904 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:1262904C>T ENST00000381312.1 - 7 1994 c.1669G>A c.(1669-1671)Gac>Aac p.D557N ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 557 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCGATCTTGTCCGTGCAGGAC 0.687000 6 9 0 0 8.12818e-05 0 0 PRDM14 63978 broad.mit.edu 37 8 70981495 70981495 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:70981495C>A ENST00000276594.2 - 2 802 c.601G>T c.(601-603)Gac>Tac p.D201Y NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AAGTGCAGGTCCTCCTCCGTG 0.602000 32 29 4.31634e-10 2.75714e-09 0.000409698 1 0 SLC4A1 6521 broad.mit.edu 37 17 42333174 42333174 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:42333174T>C ENST00000262418.6 - 14 1822 c.1667A>G c.(1666-1668)aAc>aGc p.N556S NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 556 Membrane (anion exchange). 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 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) CATCAACACGTTGTAGTTATA 0.537000 57 85 0 0 0.000781405 0 0 SEC24D 9871 broad.mit.edu 37 4 119661857 119661857 + Silent SNP G G A rs140046192 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:119661857G>A ENST00000379735.5 - 17 2473 c.2202C>T c.(2200-2202)caC>caT p.H734H SEC24D_ENST00000280551.6_Silent_p.H733H|SEC24D_ENST00000511481.1_Silent_p.H364H|SEC24D_ENST00000419654.2_Silent_p.H289H|SEC24D_ENST00000429811.2_Silent_p.H289H|SEC24D_ENST00000505134.1_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 733 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GTTTGTCATCGTGCTTGAACT 0.453000 21 41 0 0 0.000720815 0 0 TPTE2 93492 broad.mit.edu 37 13 20006616 20006616 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr13:20006616G>A ENST00000400230.2 - 16 1263 c.1219C>T c.(1219-1221)Cgt>Tgt p.R407C TPTE2_ENST00000400103.2_Missense_Mutation_p.R296C|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330C|TPTE2_ENST00000457266.2_Missense_Mutation_p.R296C|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407C|TPTE2_ENST00000390680.2_Missense_Mutation_p.R330C|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367C|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367C Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 407 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CACTTACCACGAATCGAATAA 0.388000 11 21 0 0 0.000673444 0 0 OR4K5 79317 broad.mit.edu 37 14 20389662 20389662 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:20389662G>A ENST00000315915.4 + 1 922 c.897G>A c.(895-897)agG>agA p.R299R NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCCGTAAGGAAAATTGTGA 0.383000 16 44 0 0 0.000566183 0 0 PKN1 5585 broad.mit.edu 37 19 14581443 14581443 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:14581443G>A ENST00000242783.6 + 20 2658 c.2493G>A c.(2491-2493)gaG>gaA p.E831E PKN1_ENST00000342216.4_Silent_p.E837E NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 831 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 TCAACGACGAGGTTCGCTACC 0.682000 4 21 0 0 0.000602214 0 0 GDF9 2661 broad.mit.edu 37 5 132197738 132197738 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:132197738C>T ENST00000378673.2 - 3 1774 c.908G>A c.(907-909)gGa>gAa p.G303E GDF9_ENST00000296875.2_Missense_Mutation_p.G303E O60383 GDF9_HUMAN growth differentiation factor 9 303 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGCCTCTTCTCCCACAGGATA 0.537000 18 32 0 0 0.000566183 0 0 RPL4 6124 broad.mit.edu 37 15 66794245 66794245 + Missense_Mutation SNP G G A rs138828871 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:66794245G>A ENST00000307961.6 - 5 519 c.427C>T c.(427-429)Cgt>Tgt p.R143C RPL4_ENST00000568588.1_Missense_Mutation_p.R49C NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 143 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 TCCTCAATACGATGACCTAAC 0.338000 30 32 0 0 0.00178596 0 0 STOX1 219736 broad.mit.edu 37 10 70645062 70645062 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:70645062G>A ENST00000298596.6 + 3 1593 c.1510G>A c.(1510-1512)Gga>Aga p.G504R STOX1_ENST00000421961.2_Missense_Mutation_p.G394R|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.G504R|STOX1_ENST00000399165.4_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 504 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GTCTCACCGAGGAAGCACAAT 0.448000 13 30 0 0 0.00185496 0 0 ZNF28 7576 broad.mit.edu 37 19 53302989 53302989 + Missense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:53302989C>A ENST00000438150.2 - 2 2843 c.1950G>T c.(1948-1950)atG>atT p.M650I ZNF28_ENST00000457749.2_Missense_Mutation_p.M703I|ZNF28_ENST00000414252.2_Missense_Mutation_p.M650I|ZNF28_ENST00000360272.4_Missense_Mutation_p.M650I P17035 ZNF28_HUMAN zinc finger protein 28 703 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CAAGGTTTGACATCTGACTGA 0.413000 42 56 5.20837e-25 3.3635e-24 0.00195071 1 0 SLC9A9 285195 broad.mit.edu 37 3 143550953 143550953 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:143550953T>A ENST00000316549.6 - 2 494 c.286A>T c.(286-288)Aat>Tat p.N96Y NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 96 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCAGTGATATTAACCAGCAGA 0.348000 20 21 0 0 0.00188189 0 0 MTOR 2475 broad.mit.edu 37 1 11298094 11298094 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:11298094G>A ENST00000361445.4 - 13 2090 c.2014C>T c.(2014-2016)Cgc>Tgc p.R672C NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 672 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 ACACAGTAGCGAATGTCAGGG 0.552000 11 30 0 0 0.000978159 0 0 OR2A5 393046 broad.mit.edu 37 7 143747613 143747613 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:143747613G>A ENST00000408906.2 + 1 153 c.119G>A c.(118-120)gGa>gAa p.G40E NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ACCCTGCTGGGAAATGGGGCC 0.512000 30 28 0 0 0.001512 0 0 MFNG 4242 broad.mit.edu 37 22 37872944 37872944 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:37872944G>A ENST00000356998.3 - 5 860 c.637C>T c.(637-639)Ccg>Tcg p.P213S MFNG_ENST00000416983.3_Missense_Mutation_p.P199S NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 213 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) CTGGCCCACGGAGCCATCTTC 0.622000 15 24 0 0 0.000958276 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158027 26158027 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:26158027G>A ENST00000325250.1 + 2 1112 c.925G>A c.(925-927)Gat>Aat p.D309N NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 309 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GGCTTTGAGGGATGAGGAACA 0.522000 12 1 0 0 0.00136819 0 0 PTPRG 5793 broad.mit.edu 37 3 62142769 62142769 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:62142769C>T ENST00000474889.1 + 7 1088 c.711C>T c.(709-711)gtC>gtT p.V237V PTPRG_ENST00000295874.10_Silent_p.V237V NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 237 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATCCTTTCGTCCTCCGGGACC 0.517000 26 40 0 0 0.00127121 0 0 GPR85 54329 broad.mit.edu 37 7 112724689 112724689 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:112724689T>A ENST00000501255.2 - 3 711 c.88A>T c.(88-90)Ata>Tta p.I30L GPR85_ENST00000449591.1_Missense_Mutation_p.I30L|GPR85_ENST00000297146.2_Missense_Mutation_p.I30L|GPR85_ENST00000424100.1_Missense_Mutation_p.I30L NM_001146265.1|NM_001146266.1|NM_018970.6 NP_001139737.1|NP_001139738.1|NP_061843.3 P60893 GPR85_HUMAN G protein-coupled receptor 85 30 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 ACTCCTATTATGAAACCCAAG 0.453000 17 37 0 0 0.000958276 0 0 CLDN16 10686 broad.mit.edu 37 3 190122569 190122569 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:190122569G>A ENST00000264734.2 + 3 694 c.446G>A c.(445-447)cGa>cAa p.R149Q CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 149 R -> L (in HOMG3). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GTGGTAACTCGAGCGTTGATG 0.448000 35 62 0 0 0.00170553 0 0 MICALL1 85377 broad.mit.edu 37 22 38321969 38321969 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr22:38321969C>T ENST00000215957.6 + 8 1510 c.1384C>T c.(1384-1386)Ccc>Tcc p.P462S NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 462 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GTCCCTGCACCCCTGGTACGG 0.687000 6 10 0 0 0.000157383 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780696 106780696 + RNA SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr14:106780696C>T ENST00000390612.2 - 0 239 GCTGCCGGATCCAGCCCCACC 0.582000 20 31 0 0 0.00152264 0 0 RP1L1 94137 broad.mit.edu 37 8 10465954 10465954 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:10465954G>A ENST00000382483.3 - 4 5877 c.5654C>T c.(5653-5655)cCa>cTa p.P1885L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1885 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCTGACTCTGGCTGGGCCTC 0.627000 66 72 0 0 0.000781405 0 0 MYH2 4620 broad.mit.edu 37 17 10443353 10443353 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:10443353C>T ENST00000245503.5 - 12 1423 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K MYH2_ENST00000397183.2_Missense_Mutation_p.E347K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E347K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 347 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E347K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACCTTTTCTTCATTAGTAAAG 0.423000 39 43 0 0 0.00128727 0 0 BROX 148362 broad.mit.edu 37 1 222892362 222892362 + Nonsense_Mutation SNP C C A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:222892362C>A ENST00000340934.5 + 3 603 c.197C>A c.(196-198)tCa>tAa p.S66* BROX_ENST00000537020.1_Nonsense_Mutation_p.S66*|BROX_ENST00000539697.1_Nonsense_Mutation_p.S66* NM_144695.2 NP_653296.2 Q5VW32 BROX_HUMAN BRO1 domain and CAAX motif containing 66 membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 TCATATTTCTCACTTTTACAA 0.313000 10 573 0.00136819 0.00858408 0.00136819 1 0 SLC17A1 6568 broad.mit.edu 37 6 25819768 25819768 + Missense_Mutation SNP C C T rs146175657 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:25819768C>T ENST00000244527.4 - 5 615 c.500G>A c.(499-501)cGa>cAa p.R167Q SLC17A1_ENST00000427328.1_Missense_Mutation_p.R167Q|SLC17A1_ENST00000468082.1_Missense_Mutation_p.R167Q|SLC17A1_ENST00000476801.1_Missense_Mutation_p.R167Q NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 167 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity p.R167L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAGTCGGCCTCGTTCCAGGGG 0.393000 26 95 0 0 0.00106085 0 0 ZNF252P 286101 broad.mit.edu 37 8 146220915 146220915 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:146220915G>A ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 TCAAGGCTAAGAAGTTGATTG 0.493000 9 5 0 0 0.000442599 0 0 OR10C1 442194 broad.mit.edu 37 6 29408518 29408518 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:29408518C>T ENST00000444197.2 + 1 1436 c.726C>T c.(724-726)tcC>tcT p.S242S OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCTGCTCCTCCCACCTGATCA 0.592000 94 207 0 0 0.000781405 0 0 SPDYC 387778 broad.mit.edu 37 11 64938873 64938873 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:64938873C>T ENST00000377185.2 + 2 184 c.102C>T c.(100-102)acC>acT p.T34T NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 34 cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 TAGTTACCACCCAGGTAGAGC 0.607000 30 50 0 0 0.000339439 0 0 TTN 7273 broad.mit.edu 37 2 179537416 179537416 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179537416G>A ENST00000589042.1 - 153 35025 c.34801C>T c.(34801-34803)Cct>Tct p.P11601S TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11227S|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10300S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11433 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTCCTCAGGAATTTTCTTT 0.373000 3 2 0 0 0.00024832 0 0 SLC28A2 9153 broad.mit.edu 37 15 45556877 45556877 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr15:45556877G>A ENST00000347644.3 + 7 678 c.613G>A c.(613-615)Ggc>Agc p.G205S CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 205 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGTGTTTTCGGGCCTAGGTCT 0.418000 28 39 0 0 0.00128727 0 0 GPATCH1 55094 broad.mit.edu 37 19 33579109 33579109 + Missense_Mutation SNP G G A rs150368616 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:33579109G>A ENST00000170564.2 + 2 457 c.143G>A c.(142-144)cGa>cAa p.R48Q NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 48 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) AGGTATAAACGATTCCACGGG 0.348000 39 55 0 0 0.00148497 0 0 SVEP1 79987 broad.mit.edu 37 9 113173450 113173450 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:113173450C>T ENST00000401783.2 - 37 6877 c.6541G>A c.(6541-6543)Gaa>Aaa p.E2181K SVEP1_ENST00000297826.5_Missense_Mutation_p.E107K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2158K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2181 Sushi 13. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCTTCTTTTCCCCTTTGATG 0.507000 14 5 0 0 0.000308642 0 0 AQP6 363 broad.mit.edu 37 12 50368136 50368136 + Translation_Start_Site SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:50368136G>A ENST00000551733.1 + 0 408 AQP6_ENST00000315520.5_Silent_p.A144A Q13520 AQP6_HUMAN aquaporin 6, kidney specific excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CTGGCCAGGCGGTGGCAGTGG 0.622000 OREG0021809 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 11 0 0 0.000781405 0 0 PRB4 5545 broad.mit.edu 37 12 11461723 11461723 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:11461723C>T ENST00000279575.1 - 3 227 c.194G>A c.(193-195)gGa>gAa p.G65E PRB4_ENST00000445719.2_Missense_Mutation_p.G65E|PRB4_ENST00000535904.1_Missense_Mutation_p.G65E NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 65 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGACTGGTTTCCTCCTTGTGG 0.622000 HNSCC(22;0.051) 25 178 0 0 0.000878237 0 0 PDE6C 5146 broad.mit.edu 37 10 95372844 95372844 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:95372844C>T ENST00000371447.3 + 1 500 c.362C>T c.(361-363)tCc>tTc p.S121F NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 121 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACCCCCACCTCCAAGTTTGAG 0.562000 27 35 0 0 0.000339439 0 0 TLR8 51311 broad.mit.edu 37 X 12939813 12939813 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chrX:12939813C>T ENST00000218032.6 + 2 2741 c.2654C>T c.(2653-2655)tCt>tTt p.S885F TLR8_ENST00000311912.5_Missense_Mutation_p.S903F NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 885 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GCTTACATTTCTTATGACACC 0.403000 31 6 0 0 0.000339439 0 0 PRUNE2 158471 broad.mit.edu 37 9 79324840 79324840 + Missense_Mutation SNP T T A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:79324840T>A ENST00000428286.1 - 8 2473 c.1273A>T c.(1273-1275)Aat>Tat p.N425Y PRUNE2_ENST00000376718.3_Missense_Mutation_p.N784Y Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 784 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTGTAGGATTTCCCCAGGGC 0.493000 8 6 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179426124 179426124 + Silent SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:179426124T>C ENST00000589042.1 - 326 84959 c.84735A>G c.(84733-84735)gaA>gaG p.E28245E TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.E19305E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.E19372E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.E19180E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.E26604E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.E25677E|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26604 Ig-like 131. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E25675E(1)|p.E19372E(1)|p.E19180E(1)|p.E19305E(1) 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) CAGGGACTGGTTCACAAGATT 0.403000 20 33 0 0 0.000375601 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353807 77353807 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:77353807G>A ENST00000282849.5 - 16 2889 c.2471C>T c.(2470-2472)tCt>tTt p.S824F NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 824 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GCGGTTGAAAGAGCGCTGGTA 0.557000 16 5 0 0 0.000566183 0 0 METRNL 284207 broad.mit.edu 37 17 81052232 81052232 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:81052232G>A ENST00000571814.1 + 3 1543 c.602G>A c.(601-603)gGc>gAc p.G201D METRNL_ENST00000570778.1_Missense_Mutation_p.G201D|METRNL_ENST00000320095.7_Missense_Mutation_p.G283D Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 283 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GCGCGGCTCGGCTGTGCCCCA 0.672000 24 22 0 0 0.000375601 0 0 UPF1 5976 broad.mit.edu 37 19 18976861 18976861 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:18976861C>T ENST00000262803.5 + 23 3518 c.3246C>T c.(3244-3246)taC>taT p.Y1082Y UPF1_ENST00000599848.1_Silent_p.Y1093Y NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 1093 Gln/Ser-rich. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGGACAGTTACCTTGGTGACG 0.562000 10 19 0 0 0.000673444 0 0 DNAH17 8632 broad.mit.edu 37 17 76570936 76570936 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:76570936G>A ENST00000389840.5 - 2 328 c.204C>T c.(202-204)ttC>ttT p.F68F DNAH17_ENST00000585328.1_Silent_p.F68F dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGGACTGGGGGAAGCCCAGGC 0.547000 40 26 0 0 0.00170553 0 0 ZFAT 57623 broad.mit.edu 37 8 135614806 135614806 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr8:135614806C>T ENST00000520727.1 - 7 1419 c.1120G>A c.(1120-1122)Gag>Aag p.E374K ZFAT_ENST00000377838.3_Missense_Mutation_p.E386K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E324K|ZFAT_ENST00000520356.1_Missense_Mutation_p.E374K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E374K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E374K NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TCCAAGGCCTCTTTGACCTTC 0.562000 37 36 0 0 0.000781405 0 0 BANP 54971 broad.mit.edu 37 16 88039697 88039697 + Splice_Site SNP G G T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:88039697G>T ENST00000393207.1 + 6 678 c.455_splice c.e6-1 p.A153_splice BANP_ENST00000286122.7_Splice_Site_p.A153_splice|BANP_ENST00000479780.2_Splice_Site_p.A122_splice|BANP_ENST00000355022.4_Splice_Site_p.A122_splice|BANP_ENST00000355163.5_Splice_Site_p.A128_splice|BANP_ENST00000393208.2_Splice_Site_p.A122_splice|BANP_ENST00000538234.1_Splice_Site_p.A161_splice NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 153 Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) CCCGTTTAGCGCTGTGCCTGG 0.592000 31 10 1.30293e-26 8.42036e-26 0.00058488 1 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202572 118202572 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:118202572C>T ENST00000369230.3 + 3 356 c.210C>T c.(208-210)atC>atT p.I70I NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 70 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) AACAGGAGATCAGTGCGGTTA 0.358000 7 4 0 0 8.12818e-05 0 0 NEB 4703 broad.mit.edu 37 2 152470873 152470873 + Missense_Mutation SNP T T C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:152470873T>C ENST00000397345.3 - 77 11720 c.11518A>G c.(11518-11520)Aag>Gag p.K3840E NEB_ENST00000409198.1_Missense_Mutation_p.K3597E|NEB_ENST00000172853.10_Missense_Mutation_p.K3597E|NEB_ENST00000427231.2_Missense_Mutation_p.K3840E|NEB_ENST00000603639.1_Missense_Mutation_p.K3840E|NEB_ENST00000604864.1_Missense_Mutation_p.K3840E NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3840 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGGGGATGCTTGTAGTCTATG 0.522000 25 27 0 0 0.00047179 0 0 DNAH8 1769 broad.mit.edu 37 6 38980282 38980282 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:38980282G>A ENST00000359357.3 + 89 13186 c.12932G>A c.(12931-12933)aGa>aAa p.R4311K DNAH8_ENST00000441566.1_Missense_Mutation_p.R4275K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTCTGGAAAAGAGTGTCTTGG 0.413000 18 76 0 0 0.00121646 0 0 EMR1 2015 broad.mit.edu 37 19 6897529 6897529 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:6897529G>A ENST00000312053.4 + 5 522 c.485G>A c.(484-486)gGa>gAa p.G162E EMR1_ENST00000250572.8_Missense_Mutation_p.G162E|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.G110E|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000601198.1_3'UTR NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 162 EGF-like 3; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TGTCAAGTTGGATTCATCTCT 0.438000 24 28 0 0 0.000586117 0 0 IGFN1 91156 broad.mit.edu 37 1 201184788 201184788 + Nonsense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr1:201184788G>A ENST00000335211.4 + 15 9247 c.9117G>A c.(9115-9117)tgG>tgA p.W3039* IGFN1_ENST00000295591.8_Nonsense_Mutation_p.W199*|IGFN1_ENST00000451870.2_Intron NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGGCTGCCTGGAGGAAGGACG 0.637000 12 29 0 0 0.000308642 0 0 PIP 5304 broad.mit.edu 37 7 142836727 142836727 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142836727G>A ENST00000291009.3 + 4 473 c.433G>A c.(433-435)Gta>Ata p.V145I NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 145 extracellular region actin binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) AATCCTAAAGGTAGAATAATG 0.408000 69 83 0 0 0.000781405 0 0 NF1 4763 broad.mit.edu 37 17 29509615 29509615 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:29509615C>T ENST00000358273.4 + 8 1203 c.820C>T c.(820-822)Ctt>Ttt p.L274F NF1_ENST00000356175.3_Missense_Mutation_p.L274F|NF1_ENST00000431387.4_Missense_Mutation_p.L274F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 274 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AATCATTCTCCTTATCTTGTG 0.373000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 21 22 0 0 0.00152264 0 0 CNTN1 1272 broad.mit.edu 37 12 41318411 41318411 + Silent SNP G G C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:41318411G>C ENST00000551295.2 + 6 570 c.453G>C c.(451-453)ggG>ggC p.G151G CNTN1_ENST00000360099.3_Silent_p.G151G|CNTN1_ENST00000347616.1_Silent_p.G151G|CNTN1_ENST00000348761.2_Silent_p.G140G|CNTN1_ENST00000547702.1_Silent_p.G151G|CNTN1_ENST00000547849.1_Silent_p.G151G NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 151 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TAAAAGAAGGGAAAGGAATGG 0.403000 6 0 0 0 8.12818e-05 0 0 SCAMP1 9522 broad.mit.edu 37 5 77755108 77755108 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:77755108C>T ENST00000538629.1 + 8 932 c.775C>T c.(775-777)Cct>Tct p.P259S SCAMP1_ENST00000339292.4_3'UTR NM_004866.4 NP_004857.4 O15126 SCAM1_HUMAN secretory carrier membrane protein 1 259 post-Golgi vesicle-mediated transport|protein transport integral to membrane|recycling endosome membrane|trans-Golgi network protein binding all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37) CCAAAATATTCCTGTTGGAAT 0.308000 11 12 0 0 0.000422831 0 0 STXBP5L 9515 broad.mit.edu 37 3 120957838 120957838 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:120957838C>T ENST00000273666.6 + 13 1476 c.1205C>T c.(1204-1206)cCa>cTa p.P402L STXBP5L_ENST00000471454.1_Missense_Mutation_p.P402L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P402L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P402L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P402L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 402 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TTTGAAAATCCATATCCCATG 0.313000 9 12 0 0 0.000673444 0 0 COL17A1 1308 broad.mit.edu 37 10 105797396 105797396 + Missense_Mutation SNP C C T rs147631156 byFrequency TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr10:105797396C>T ENST00000353479.5 - 46 3496 c.3206G>A c.(3205-3207)cGg>cAg p.R1069Q COL17A1_ENST00000369733.3_Missense_Mutation_p.R1024Q NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 1069 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCTTACTCCGTAAGTAGCT 0.602000 38 38 0 0 0.00148497 0 0 VARS 7407 broad.mit.edu 37 6 31752211 31752211 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr6:31752211G>A ENST00000375663.3 - 12 1976 c.1536C>T c.(1534-1536)ttC>ttT p.F512F VARS_ENST00000444930.2_Silent_p.F217F NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 512 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CGAGGACCCCGAACTCCACCT 0.597000 181 457 0 0 0.000781405 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516156 140516156 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:140516156G>A ENST00000231134.5 + 1 1357 c.1140G>A c.(1138-1140)atG>atA p.M380I NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 380 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGGTAGGATGATTTGCTCCA 0.488000 24 46 0 0 0.001512 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555148 44555148 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:44555148C>T ENST00000330682.2 - 1 1301 c.1066G>A c.(1066-1068)Gaa>Aaa p.E356K KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 356 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGGACCCCTTCCACGTCGCCG 0.652000 24 318 0 0 0.00127121 0 0 TBC1D2 55357 broad.mit.edu 37 9 100961797 100961797 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr9:100961797G>A ENST00000375066.5 - 13 2711 c.2620C>T c.(2620-2622)Cac>Tac p.H874Y TBC1D2_ENST00000375063.1_Missense_Mutation_p.H425Y|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.H667Y NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 885 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CGCTCCCGGTGGACCATGCGC 0.632000 68 34 0 0 0.000781405 0 0 VCAN 1462 broad.mit.edu 37 5 82817592 82817592 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:82817592C>T ENST00000265077.3 + 7 4032 c.3467C>T c.(3466-3468)cCt>cTt p.P1156L VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P1156L|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1108L NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1156 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTTTGAGTCCTTTTAGTACC 0.393000 21 38 0 0 0.000295444 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95201808 95201808 + Silent SNP C C T rs143809731 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:95201808C>T ENST00000354268.4 + 20 2557 c.2484C>T c.(2482-2484)ttC>ttT p.F828F SMARCAD1_ENST00000457823.2_Silent_p.F830F|SMARCAD1_ENST00000509418.1_Silent_p.F398F Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 828 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TGACAGACTTCGAACTACATG 0.343000 52 68 0 0 0.000781405 0 0 SCN10A 6336 broad.mit.edu 37 3 38739732 38739732 + Missense_Mutation SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:38739732G>A ENST00000449082.2 - 27 4978 c.4979C>T c.(4978-4980)tCg>tTg p.S1660L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1660 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCAGCCGGCCGACGTGGTAAT 0.607000 33 41 0 0 0.000692331 0 0 SOX6 55553 broad.mit.edu 37 11 16071335 16071335 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:16071335G>A ENST00000352083.6 - 11 1478 c.1401C>T c.(1399-1401)ccC>ccT p.P467P SOX6_ENST00000396356.3_Silent_p.P467P|SOX6_ENST00000528252.1_Silent_p.P426P|SOX6_ENST00000528429.1_Silent_p.P467P|SOX6_ENST00000527619.1_Silent_p.P429P|SOX6_ENST00000316399.6_Silent_p.P467P P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 467 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TTCCTCCAATGGGGCTAGGGA 0.488000 30 4 0 0 0.000491102 0 0 MYH4 4622 broad.mit.edu 37 17 10356141 10356141 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:10356141C>T ENST00000255381.2 - 25 3330 c.3220G>A c.(3220-3222)Gaa>Aaa p.E1074K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1074 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGTCATTTTCTGTATCCATT 0.368000 55 71 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196786910 196786910 + Frame_Shift_Del DEL T T - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr2:196786910delT ENST00000312428.6 - 24 3937 c.3837delA c.(3835-3837)ttfs p.L1279fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1279 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTTTTGTTTCTAAATGATTTT 0.294 9 18 --- --- --- --- SNRK 54861 broad.mit.edu 37 3 43389865 43389875 + Frame_Shift_Del DEL AGTTTTTCTCT AGTTTTTCTCT - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:43389865_43389875delAGTTTTTCTCT ENST00000296088.7 + 7 2418_2428 c.2114_2124delAGTTTTTCTCT c.(2113-2124)afs p.KFFS705fs SNRK_ENST00000454177.1_Frame_Shift_Del_p.KFFS705fs|SNRK_ENST00000429705.2_Frame_Shift_Del_p.KFFS705fs|SNRK_ENST00000437827.1_Frame_Shift_Del_p.KFFS499fs NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 705 myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) GGCGGCATAAAGTTTTTCTCTGACCACATGG 0.469 27 52 --- --- --- --- DNAH12 201625 broad.mit.edu 37 3 57509312 57509313 + Frame_Shift_Ins INS - - T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr3:57509312_57509313insT ENST00000351747.2 - 4 456_457 c.276_277insA c.(274-279)aagattfs p.I93fs DNAH12_ENST00000311202.6_Frame_Shift_Ins_p.I93fs|DNAH12_ENST00000389536.4_Frame_Shift_Ins_p.I93fs NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 93 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.G93fs*7(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 GAACTCACTCCTTTTTTTTTCA 0.252 7 61 --- --- --- --- AFP 174 broad.mit.edu 37 4 74313277 74313285 + In_Frame_Del DEL AATTCATGC AATTCATGC - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr4:74313277_74313285delAATTCATGC ENST00000395792.2 + 8 1042_1050 c.942_950delAATTCATGC c.(940-951)ata>at p.IIHA314del AFP_ENST00000226359.2_In_Frame_Del_p.IIHA314del NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 314 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTCAATGTATAATTCATGCAGAAAATGAT 0.349 Alpha-Fetoprotein, Hereditary Persistence of 9 32 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137728990 137728991 + Frame_Shift_Del DEL GC GC - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr5:137728990_137728991delGC ENST00000314358.5 + 9 2960_2961 c.2760_2761delGC c.(2758-2763)gaggfs p.ER920fs KDM3B_ENST00000542866.1_5'UTR|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.ER576fs NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 920 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GCCGCCTGGAGCGGTACCGGAA 0.510 10 21 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 3 5 --- --- --- --- HRAS 3265 broad.mit.edu 37 11 533312 533321 + Frame_Shift_Del DEL GGGTCCCAGA GGGTCCCAGA - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:533312_533321delGGGTCCCAGA ENST00000417302.1 - 5 675_684 c.488_497delTCTGGGACCC c.(487-498)ccfs p.LWDP163fs HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Frame_Shift_Del_p.LWDP163fs|HRAS_ENST00000397596.2_Intron NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 0 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GGGTCCCGGGGGGTCCCAGAGGGTCCCGGA 0.738 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 16 5 --- --- --- --- LRRC4C 57689 broad.mit.edu 37 11 40137645 40137646 + Frame_Shift_Ins INS - - T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:40137645_40137646insT ENST00000278198.2 - 2 2160_2161 c.197_198insA c.(196-198)actfs p.T66fs LRRC4C_ENST00000527150.1_Frame_Shift_Ins_p.T66fs|LRRC4C_ENST00000530763.1_Frame_Shift_Ins_p.T66fs|LRRC4C_ENST00000528697.1_Frame_Shift_Ins_p.T66fs Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 66 LRRNT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CCTCACGCAGGTTTTTCCGAAC 0.525 30 5 --- --- --- --- DLG2 1740 broad.mit.edu 37 11 83194323 83194324 + Frame_Shift_Ins INS - - G TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr11:83194323_83194324insG ENST00000426717.2 - 5 622_623 c.342_343insC c.(340-345)ggacgafs p.R115fs DLG2_ENST00000532653.1_Frame_Shift_Ins_p.R633fs|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000537455.1_Frame_Shift_Ins_p.R387fs|DLG2_ENST00000531015.1_Intron|DLG2_ENST00000398304.1_Frame_Shift_Ins_p.R115fs|DLG2_ENST00000524982.1_Frame_Shift_Ins_p.R633fs|DLG2_ENST00000376106.3_Frame_Shift_Ins_p.R115fs|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000330014.6_Frame_Shift_Ins_p.R572fs|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000418306.2_Frame_Shift_Ins_p.R530fs|DLG2_ENST00000404783.3_Frame_Shift_Ins_p.R115fs NM_001142702.1 NP_001136174.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 633 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TAACCGTCGTCACCTAATCCGG 0.450 2 4 --- --- --- --- OVCH1 341350 broad.mit.edu 37 12 29631833 29631846 + Splice_Site DEL ATGTCTAAACTTGT ATGTCTAAACTTGT - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr12:29631833_29631846delATGTCTAAACTTGT ENST00000318184.5 - 9 995_1003 c.995_splice c.e9-1 p.M332_splice OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 332 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTGCTTTTCCATGTCTAAACTTGTAAATTTTATC 0.318 3 6 --- --- --- --- TUBB8P7 197331 broad.mit.edu 37 16 90160897 90160898 + RNA INS - - GCG TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr16:90160897_90160898insGCG ENST00000564451.1 + 0 848_849 TUBB8P7_ENST00000567960.1_RNA CTCCTGGGAACGCGGCCCTCCC 0.728 5 6 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 5 5 --- --- --- --- TCEB3CL2 100506888 broad.mit.edu 37 18 44543228 44543229 + Frame_Shift_Del DEL TG TG - TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr18:44543228_44543229delTG ENST00000591973.2 - 1 1378_1379 c.1143_1144delCA c.(1141-1146)gaatfs p.DN381fs KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_001242907.1 NP_001229836.1 transcription elongation factor B polypeptide 3C-like 2 AGTGCGGCATTGTCTTTCTCTG 0.584 14 373 --- --- --- --- MAP1S 55201 broad.mit.edu 37 19 17845123 17845125 + In_Frame_Del DEL GTG GTG - rs71791998 TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5f6b4e22-9bf9-4da6-86a9-660f2bafbcae 95330688-090e-49b7-9d53-78b4e5cd1dd3 g.chr19:17845123_17845125delGTG ENST00000324096.4 + 7 3217_3219 c.3066_3068delGTG c.(3064-3069)acg>ac p.TW1022del CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_In_Frame_Del_p.TW996del NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 1022 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CCATGCATACGTGGTACGCAGAG 0.660 7 16 --- --- --- ---