Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TUBB8 347688 broad.mit.edu 37 10 93548 93548 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr10:93548G>A uc001ifi.2 - 3 784 c.784C>T c.(784-786)Cgg>Tgg p.R262W NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA. 262 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) AAATGCAGCCGGGGAAACGGG 0.627000 31 6 0 0 0.001168 0 0 NKTR 4820 broad.mit.edu 37 3 42679557 42679557 + Missense_Mutation SNP A C C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr3:42679557A>C uc003clo.3 + 12 2508 c.2361A>C c.(2359-2361)aaA>aaC p.K787N NKTR_uc003clm.1_Missense_Mutation_p.K534N|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.K534N|NKTR_uc003clq.1_Missense_Mutation_p.K677N|NKTR_uc003clr.1_Missense_Mutation_p.K534N|NKTR_uc003cls.3_Missense_Mutation_p.K487N NM_005385 NP_005376 P30414 NKTR_HUMAN Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA. 787 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AATATGTCAAAGGTAGAGACA 0.408000 49 41 0 0 0.008740 0 0 DDX12P 440081 broad.mit.edu 37 12 9580293 9580293 + RNA SNP A G G rs139954536 by1000genomes TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr12:9580293A>G uc021qut.1 - 4 c.329T>C DDX12P_uc001qvx.4_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. p.M473T(1) CTTCAGCTCCATCCCTGAGAA 0.502000 87 6 0 0 0.001168 0 0 ATAD5 79915 broad.mit.edu 37 17 29220572 29220572 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:29220572G>A uc002hfs.1 + 20 5044 c.4701G>A c.(4699-4701)aaG>aaA p.K1567K NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA. 1567 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGAAACAAAAGAAAACATTGG 0.373000 29 14 0 0 0.002450 0 0 MYO15A 51168 broad.mit.edu 37 17 18022636 18022636 + Silent SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:18022636C>T uc021trm.1 + 0 741 c.522C>T c.(520-522)ttC>ttT p.F174F MYO15A_uc021trl.1_Silent_p.F174F NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 174 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AACTCCCCTTCCCGTCGGGTG 0.711000 27 24 0 0 0.004656 0 0 STOML3 161003 broad.mit.edu 37 13 39550878 39550878 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr13:39550878G>A uc001uwx.3 - 1 247 c.109C>T c.(109-111)Ctg>Ttg p.L37L STOML3_uc010tez.2_Silent_p.L28L NM_145286 NP_660329 Q8TAV4 STML3_HUMAN Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA. 37 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) ATCACCAACAGGAAAGAGAGG 0.418000 17 11 0 0 0.013537 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519545 113519545 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:113519545G>A uc010ljy.1 - 3 1633 c.1602C>T c.(1600-1602)ttC>ttT p.F534F NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 534 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AGATTGTTTGGAAATTTTTTC 0.373000 24 21 0 0 0.008871 0 0 DMRT2 10655 broad.mit.edu 37 9 1056913 1056913 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:1056913G>A uc003zha.3 + 3 1526 c.1326G>A c.(1324-1326)acG>acA p.T442T DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Silent_p.T286T|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Silent_p.T442T NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA. 442 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.T442T(1) large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TTGTTGACACGGACTCCCTGG 0.527000 15 80 0 0 0.014410 0 0 OTUD7A 161725 broad.mit.edu 37 15 31862357 31862357 + Silent SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr15:31862357C>T uc001zfq.3 - 1 288 c.195G>A c.(193-195)caG>caA p.Q65Q OTUD7A_uc001zfr.3_Silent_p.Q65Q|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Silent_p.Q65Q NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 65 cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CCTGGCGGAGCTGCTCATAGT 0.567000 43 37 0 0 0.007835 0 0 SALL4 57167 broad.mit.edu 37 20 50400980 50400980 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr20:50400980G>A uc002xwh.4 - 3 3087 c.2986C>T c.(2986-2988)Cct>Tct p.P996S SALL4_uc010gii.3_Missense_Mutation_p.P559S|SALL4_uc002xwi.4_Missense_Mutation_p.P219S NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 996 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGAGGGTAGGAACCCCCCCA 0.557000 71 28 0 0 0.007291 0 0 NID2 22795 broad.mit.edu 37 14 52507401 52507401 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr14:52507401G>A uc001wzo.3 - 7 2228 c.1994C>T c.(1993-1995)cCc>cTc p.P665L NID2_uc010tqs.2_Missense_Mutation_p.P665L|NID2_uc010tqt.1_Missense_Mutation_p.P665L|NID2_uc001wzp.3_Missense_Mutation_p.P665L NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 665 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTCCTTGTAGGGAGAGATGTG 0.473000 88 64 0 0 0.014410 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141130 143141130 + Silent SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:143141130C>T uc011ktg.2 + 0 585 c.585C>T c.(583-585)ttC>ttT p.F195F LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 195 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.L194F(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTATCTCTTCCCTCTAAAAA 0.423000 97 67 0 0 0.014410 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:31317540C>T uc003jhe.2 + 9 1931 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_uc003jhd.2_Missense_Mutation_p.S524L NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 524 Cadherin 5. 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 CACCAATTTTCGTTTTCCTTG 0.403000 14 43 0 0 0.013114 0 0 RGPD4 285190 broad.mit.edu 37 2 108477279 108477279 + Missense_Mutation SNP T A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:108477279T>A uc010ywk.2 + 12 1898 c.1816T>A c.(1816-1818)Tat>Aat p.Y606N RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 606 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAGTGTTCATTATTGGAAGAA 0.323000 81 58 0 0 0.014410 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293274 145293274 + Splice_Site SNP T G G rs4525095 by1000genomes TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:145293274T>G uc021ouk.1 + 5 1163 c.-35_splice c.e5+2 NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Intron|NBPF10_uc021oul.1_5'Flank|NBPF10_uc001emq.1_5'UTR NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CAACAGTAAGTTAAGAATTTC 0.428000 108 107 0 0 0.014410 0 0 PELI2 57161 broad.mit.edu 37 14 56746398 56746398 + Missense_Mutation SNP T G G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr14:56746398T>G uc001xch.3 + 2 498 c.212T>G c.(211-213)aTc>aGc p.I71S NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA. 71 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 tattaGGCTATCAGCTGCAAA 0.378000 35 33 0 0 0.013726 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871926 51871926 + Silent SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr20:51871926C>T uc002xwo.3 + 1 2816 c.1929C>T c.(1927-1929)gcC>gcT p.A643A TSHZ2_uc021wex.1_Silent_p.A640A NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 643 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CTCCAGAAGCCAAAAAGACCG 0.557000 44 64 0 0 0.014410 0 0 SGCZ 137868 broad.mit.edu 37 8 14412245 14412245 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:14412245G>A uc003wwq.3 - 1 890 c.230C>T c.(229-231)aCt>aTt p.T77I SGCZ_uc010lss.3_Missense_Mutation_p.T64I NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 64 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.T77T(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ACTTACCACAGTGAAATTCAT 0.328000 22 16 0 0 0.004007 0 0 DTX2 113878 broad.mit.edu 37 7 76112398 76112398 + Missense_Mutation SNP G A A rs142155908 byFrequency TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:76112398G>A uc011kgk.1 + 2 921 c.569G>A c.(568-570)cGc>cAc p.R190H DTX2_uc003uff.4_Missense_Mutation_p.R281H|DTX2_uc003ufg.4_Missense_Mutation_p.R281H|DTX2_uc003ufh.4_Missense_Mutation_p.R281H|DTX2_uc003ufj.4_Missense_Mutation_p.R281H NM_020892 NP_065943 Q86UW9 DTX2_HUMAN Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA. 281 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CCCCTCTACCGCTCCAGCCTC 0.682000 64 8 0 0 0.002450 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A T T rs76270529 by1000genomes TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:39254054A>T uc010wfo.2 - 0 322 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA. 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(8) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 28 5 0 0 0.000602 0 0 PDZD2 23037 broad.mit.edu 37 5 32058048 32058048 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:32058048C>T uc003jhl.3 + 11 2427 c.2039C>T c.(2038-2040)cCc>cTc p.P680L PDZD2_uc003jhm.3_Missense_Mutation_p.P680L|PDZD2_uc011cnx.1_Missense_Mutation_p.P506L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 680 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 AGCCTCACACCCTGCTCGACA 0.532000 OREG0016543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 13 0 0 0.003163 0 0 NPSR1 387129 broad.mit.edu 37 7 34698172 34698172 + Splice_Site SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:34698172G>A uc003teh.1 + 1 275 c.147_splice c.e1+1 p.K49_splice NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Splice_Site_p.K49_splice|NPSR1_uc010kwt.1_Splice_Site|NPSR1_uc010kwu.1_Splice_Site|NPSR1_uc010kwv.1_Splice_Site_p.K49_splice|NPSR1_uc003tei.1_Splice_Site_p.K49_splice|NPSR1_uc010kww.1_Splice_Site_p.K49_splice|NPSR1_uc011kar.1_Splice_Site_p.K49_splice NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 49 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) CTCCTTTAAGGTAAGTTTCTT 0.438000 32 29 0 0 0.006320 0 0 RARS 5917 broad.mit.edu 37 5 167915736 167915736 + Nonsense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:167915736C>T uc003lzx.3 + 1 216 c.175C>T c.(175-177)Cga>Tga p.R59* RARS_uc011deo.2_5'UTR NM_002887 NP_002878 P54136 SYRC_HUMAN Homo sapiens arginyl-tRNA synthetase (RARS), mRNA. 59 Could be involved in the assembly of the multisynthetase complex. arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|arginine-tRNA ligase activity|protein binding p.R59*(2) 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) GAATATTCTTCGAAAGGTGAG 0.338000 30 20 0 0 0.012319 0 0 PAMR1 25891 broad.mit.edu 37 11 35454298 35454298 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:35454298G>A uc001mwf.3 - 11 1863 c.1820C>T c.(1819-1821)tCc>tTc p.S607F PAMR1_uc001mwg.3_Missense_Mutation_p.S590F|PAMR1_uc010rew.2_Missense_Mutation_p.S479F|PAMR1_uc010rex.2_Missense_Mutation_p.S550F NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 590 Peptidase S1. 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 CTCCTGGAAGGAAGTGCTGAG 0.597000 5 18 0 0 0.006122 0 0 PTPRD 5789 broad.mit.edu 37 9 8486101 8486101 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:8486101C>T uc003zkk.3 - 27 3459 c.2716G>A c.(2716-2718)Gag>Aag p.E906K PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 906 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) TTCACCATCTCCTCCCCAAAG 0.468000 TSP Lung(15;0.13) 6 23 0 0 0.002780 0 0 FREM1 158326 broad.mit.edu 37 9 14841567 14841567 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:14841567G>A uc003zlm.3 - 10 2575 c.1759C>T c.(1759-1761)Ctt>Ttt p.L587F FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 587 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCCCTCTGAAGGAAGCCATGG 0.383000 21 60 0 0 0.014410 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887488 12887488 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:12887488G>A uc001auk.2 - 2 565 c.369C>T c.(367-369)taC>taT p.Y123Y NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 123 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCAGGTGAGGTATTCATCCA 0.473000 39 4 0 0 0.003080 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971208 21971208 + Splice_Site SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:21971208C>T uc003zpk.3 - 2 457 c.151_splice c.e2-1 p.V51_splice MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Splice_Site|CDKN2A_uc010miu.3_Splice_Site_p.V51_splice|CDKN2A_uc003zpl.3_Splice_Site_p.G65_splice NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 51 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCATCATGACCTGCCAGAGAG 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 19 24 0 0 0.003954 0 0 PLXDC2 84898 broad.mit.edu 37 10 20466284 20466284 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr10:20466284C>T uc001iqg.1 + 8 1644 c.1007C>T c.(1006-1008)cCc>cTc p.P336L PLXDC2_uc001iqh.1_Missense_Mutation_p.P287L|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 336 PSI. integral to membrane p.P336P(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 AGATGTGGCCCCTGTGTATCT 0.363000 8 37 0 0 0.009718 0 0 GLDN 342035 broad.mit.edu 37 15 51676081 51676081 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr15:51676081G>A uc002aba.3 + 3 702 c.533G>A c.(532-534)gGa>gAa p.G178E GLDN_uc010bez.1_Missense_Mutation_p.E161K|GLDN_uc002abb.3_Missense_Mutation_p.G54E NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN Homo sapiens gliomedin (GLDN), mRNA. 178 Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GGAAAAAGAGGAAAAATGGGT 0.483000 27 13 0 0 0.013537 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409801 79409801 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:79409801C>T uc002kaf.2 + 3 1240 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA. 476 DNA binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1) 26 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) CAGCGCAGGCCCCGAGGCCTC 0.667000 8 9 0 0 0.006214 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923387 9923387 + Missense_Mutation SNP A T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr16:9923387A>T uc010uym.2 - 9 2210 c.1900T>A c.(1900-1902)Tgg>Agg p.W634R GRIN2A_uc002czo.4_Missense_Mutation_p.W634R|GRIN2A_uc010uyn.2_Missense_Mutation_p.W477R|GRIN2A_uc002czr.4_Missense_Mutation_p.W634R NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 634 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGAAGGCCCATACAGATACC 0.493000 36 34 0 0 0.010818 0 0 HOXA11 3207 broad.mit.edu 37 7 27222434 27222434 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:27222434G>A uc003syx.3 - 1 995 c.923C>T c.(922-924)tCa>tTa p.S308L HOXA9_uc022aar.1_5'Flank|HOXA10_uc003syw.4_5'Flank|HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN Homo sapiens homeobox A11 (HOXA11), mRNA. 308 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TGGATTTGCTGAGTAGTACTG 0.443000 T NUP98 CML 49 27 0 0 0.008361 0 0 ACAP1 9744 broad.mit.edu 37 17 7251257 7251257 + Missense_Mutation SNP T C C rs143351258 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:7251257T>C uc002ggd.2 + 14 1566 c.1360T>C c.(1360-1362)Ttc>Ctc p.F454L NM_014716 NP_055531 Q15027 ACAP1_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. 454 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TGGTGTTCACTTCTCCAAAGT 0.597000 64 11 0 0 0.013537 0 0 ECEL1 9427 broad.mit.edu 37 2 233344912 233344912 + Missense_Mutation SNP C A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:233344912C>A uc002vsv.2 - 17 2484 c.2279G>T c.(2278-2280)tGt>tTt p.C760F ECEL1_uc010fya.1_Missense_Mutation_p.C758F|ECEL1_uc010fyb.1_Missense_Mutation_p.C467F NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 760 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GTCCTTGGGACAGTGGAAAGC 0.652000 31 12 0.000151284 0.000450635 0.001855 1 0 TCF3 6929 broad.mit.edu 37 19 1632113 1632113 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:1632113G>A uc002ltr.3 - 4 291 c.222C>T c.(220-222)acC>acT p.T74T TCF3_uc002ltt.4_Silent_p.T74T|TCF3_uc002ltq.3_Intron|TCF3_uc002lts.1_5'Flank NM_003200 NP_003191 P15923 TFE2_HUMAN Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA. 74 FDPSRTFSEGTHFTESHSSLSSSTFLGPGLG -> GGGECL AWCGPSAVHRCADVGLGMVSARTAP (in Ref. 6; CAA36297). B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) CCTCGCTGAAGGTCTAGGGGA 0.637000 T """PBX1, HLF, TFPT""" pre B-ALL 16 6 0 0 0.003080 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141184 143141184 + Missense_Mutation SNP G A A rs141559059 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:143141184G>A uc011ktg.2 + 0 639 c.639G>A c.(637-639)atG>atA p.M213I LOC285965_uc003wda.3_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA. 213 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.M213I(4) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCATTTGCATGATTTTGCTCA 0.463000 74 41 0 0 0.010771 0 0 ZNF536 9745 broad.mit.edu 37 19 30936347 30936347 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:30936347G>A uc002nsu.1 + 1 2016 c.1878G>A c.(1876-1878)atG>atA p.M626I ZNF536_uc010edd.1_Missense_Mutation_p.M626I NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGGGAACATGAAGGAGAAGC 0.597000 102 58 0 0 0.014410 0 0 NEIL3 55247 broad.mit.edu 37 4 178281684 178281684 + Silent SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:178281684C>T uc003iut.2 + 8 1605 c.1488C>T c.(1486-1488)ggC>ggT p.G496G NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA. 496 base-excision repair|nucleotide-excision repair nucleus DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) TGACAGATGGCCCTCGTACCT 0.478000 Base excision repair (BER), DNA glycosylases 8 21 0 0 0.003954 0 0 VARS 7407 broad.mit.edu 37 6 31759398 31759399 + Missense_Mutation DNP GG AA AA TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:31759398_31759399GG>AA uc003nxe.3 - 7 1511_1512 c.1088_1089CC>TT c.(1087-1089)tcc>tTT p.S363F VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 363 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) ATCGAGTCAGGGAGTCCTGGAT 0.594000 180 96 0 0 0.004672 0 0 USH1C 10083 broad.mit.edu 37 11 17547910 17547910 + Missense_Mutation SNP G C C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:17547910G>C uc001mnf.3 - 7 767 c.658C>G c.(658-660)Cga>Gga p.R220G USH1C_uc001mne.3_Missense_Mutation_p.R220G|USH1C_uc009yhb.3_Missense_Mutation_p.R220G|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.R184G NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 220 PDZ 2. G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CCAAGGCCTCGGGAGCCTACC 0.617000 5 9 0 0 0.006214 0 0 IZUMO2 126123 broad.mit.edu 37 19 50657868 50657868 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:50657868G>A uc002prp.1 - 5 699 c.612C>T c.(610-612)gtC>gtT p.V204V NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN Homo sapiens IZUMO family member 2 (IZUMO2), mRNA. 204 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 AGACCACGATGACCACGAAGA 0.587000 41 30 0 0 0.007291 0 0 IL9R 3581 broad.mit.edu 37 X 155233493 155233493 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chrX:155233493G>A uc004fnv.1 + 3 585 c.406G>A c.(406-408)Gac>Aac p.D136N IL9R_uc010nvn.2_Missense_Mutation_p.D115N|IL9R_uc004fnu.1_Nonsense_Mutation_p.W180* NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 136 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAGCCTGGTGGACCCGGAGTA 0.622000 61 25 0 0 0.009535 0 0 C1orf129 80133 broad.mit.edu 37 1 170959135 170959135 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:170959135C>T uc010plz.2 + 10 1173 c.1019C>T c.(1018-1020)cCa>cTa p.P340L C1orf129_uc001ghg.3_Missense_Mutation_p.P340L|C1orf129_uc009wvy.3_Missense_Mutation_p.P147L NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 340 binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TACCCAGTTCCAGCAGACGAG 0.473000 17 16 0 0 0.007413 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293428 120293428 + Silent SNP G C C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:120293428G>C uc001eid.3 - 8 1612 c.1524C>G c.(1522-1524)gtC>gtG p.V508V HMGCS2_uc010oxj.2_Silent_p.V466V|HMGCS2_uc021osw.1_Silent_p.V274V NM_005518 NP_005509 P54868 HMCS2_HUMAN Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 508 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) ACCACCTTTAGACGGGACGCC 0.537000 712 238 0 0 0.014410 0 0 HDAC6 10013 broad.mit.edu 37 X 48681101 48681101 + Silent SNP A C C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chrX:48681101A>C uc011mmi.1 + 23 2504 c.2409A>C c.(2407-2409)ccA>ccC p.P803P HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN Homo sapiens histone deacetylase 6 (HDAC6), mRNA. 803 Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.P803P(4) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GAGACCCACCACCCCTGCTGA 0.587000 28 6 0 0 0.013537 0 0 BMP2K 55589 broad.mit.edu 37 4 79793862 79793862 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:79793862C>T uc003hlk.3 + 12 1869 c.1703C>T c.(1702-1704)cCt>cTt p.P568L BMP2K_uc003hlj.3_Missense_Mutation_p.P568L|BMP2K_uc003hll.3_Missense_Mutation_p.P32L NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA. 568 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 CTTACCTCCCCTCAAGAGTTC 0.463000 9 29 0 0 0.005443 0 0 DDX12P 440081 broad.mit.edu 37 12 9580280 9580280 + RNA SNP A G G rs146037854 by1000genomes TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr12:9580280A>G uc021qut.1 - 4 c.342T>C DDX12P_uc001qvx.4_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. AGTCGTTGATAGTCTTCAGCT 0.493000 96 7 0 0 0.003080 0 0 PREX2 80243 broad.mit.edu 37 8 68972998 68972998 + Silent SNP T C C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:68972998T>C uc003xxv.1 + 10 1350 c.1323T>C c.(1321-1323)aaT>aaC p.N441N PREX2_uc003xxu.1_Silent_p.N441N|PREX2_uc011lez.1_Silent_p.N376N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 441 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding 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 TATTAGAAAATGGAATCATTC 0.348000 67 13 0 0 0.013537 0 0 LLGL2 3993 broad.mit.edu 37 17 73567827 73567827 + Silent SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:73567827C>T uc002joh.3 + 17 2410 c.2256C>T c.(2254-2256)gcC>gcT p.A752A LLGL2_uc002joi.3_Silent_p.A752A|LLGL2_uc010dgg.2_Silent_p.A752A|LLGL2_uc002joj.3_Silent_p.A741A|LLGL2_uc010wsd.2_Silent_p.A379A NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 752 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TGCCTCCCGCCGAGCGGAGAA 0.682000 8 26 0 0 0.005443 0 0 DNMT1 1786 broad.mit.edu 37 19 10246815 10246815 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:10246815G>A uc002mng.3 - 36 4770 c.4590C>T c.(4588-4590)ccC>ccT p.P1530P DNMT1_uc002mnf.3_Silent_p.P454P|DNMT1_uc010xlc.2_Silent_p.P1546P|DNMT1_uc002mnh.3_Silent_p.P1425P|DNMT1_uc010xld.2_Silent_p.P1533P NM_001379 NP_001370 P26358 DNMT1_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA. 1530 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding p.P1530L(1) breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCATGGGCTCGGGGTTGGTGA 0.647000 32 27 0 0 0.008361 0 0 LOC440563 440563 broad.mit.edu 37 1 13183427 13183427 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:13183427G>A uc010obg.2 - 1 689 c.446C>T c.(445-447)tCa>tTa p.S149L NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA. 149 ribonucleoprotein complex nucleic acid binding|nucleotide binding GGTGTTTCCTGATATGCGCTG 0.512000 209 77 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 14 106725137 106725137 + RNA SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr14:106725137C>T uc021ser.1 - 928 c.22341G>A Parts of antibodies, mostly variable regions. CCGCTGATTTCCCCCCCATCG 0.587000 65 23 0 0 0.012319 0 0 ZNF334 55713 broad.mit.edu 37 20 45130161 45130161 + Missense_Mutation SNP C A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr20:45130161C>A uc002xsa.3 - 3 2348 c.1886G>T c.(1885-1887)gGg>gTg p.G629V ZNF334_uc002xsb.3_Missense_Mutation_p.G568V|ZNF334_uc002xsd.3_Missense_Mutation_p.G568V|ZNF334_uc002xsc.3_Missense_Mutation_p.G606V|ZNF334_uc010ghl.3_Missense_Mutation_p.G605V Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GAAGGATTTCCCACATTCATT 0.423000 211 37 6.29468e-14 1.89517e-13 0.004878 1 0 HIVEP2 3097 broad.mit.edu 37 6 143093699 143093699 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:143093699G>A uc003qjd.3 - 4 2920 c.2177C>T c.(2176-2178)tCc>tTc p.S726F NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 726 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTCATAATCGGAAGCCATGAT 0.522000 37 37 0 0 0.005524 0 0 PLXDC2 84898 broad.mit.edu 37 10 20432323 20432323 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr10:20432323C>T uc001iqg.1 + 4 1278 c.641C>T c.(640-642)tCa>tTa p.S214L PLXDC2_uc001iqh.1_Missense_Mutation_p.S165L|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 214 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TCCAGAAATTCAACTGTCAGA 0.358000 10 40 0 0 0.009718 0 0 IL1R1 3554 broad.mit.edu 37 2 102785060 102785060 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:102785060G>A uc002tbq.3 + 6 976 c.658G>A c.(658-660)Gaa>Aaa p.E220K IL1R1_uc010fix.3_Missense_Mutation_p.E220K|IL1R1_uc002tbr.3_Missense_Mutation_p.E220K NM_000877 NP_000868 P14778 IL1R1_HUMAN Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA. 220 innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TCTTTCAGAGGAAAACAAACC 0.428000 70 40 0 0 0.011902 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938448 30938448 + RNA SNP A G G rs146574312 by1000genomes TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr15:30938448A>G uc010azv.1 + 10 c.1258A>G ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript Q3KRB8 RHGBB_HUMAN Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CTATTTGTGCATGGTGGCTGG 0.483000 18 5 0 0 0.000602 0 0 CCDC170 80129 broad.mit.edu 37 6 151939193 151939193 + Nonsense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:151939193C>T uc003qol.3 + 10 2148 c.2059C>T c.(2059-2061)Cag>Tag p.Q687* U6_uc021zgw.1_5'Flank NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 687 CCATTCACATCAGCATCACTT 0.473000 54 43 0 0 0.009718 0 0 STC1 6781 broad.mit.edu 37 8 23709033 23709033 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:23709033G>A uc003xdw.1 - 2 557 c.273C>T c.(271-273)ttC>ttT p.F91F NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 91 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TCTCTTTGACGAATGCTTTTC 0.507000 23 15 0 0 0.002450 0 0 FAM75A3 727830 broad.mit.edu 37 9 40702792 40702793 + Missense_Mutation DNP CC TT TT TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:40702792_40702793CC>TT uc010mmj.3 + 3 478_479 c.449_450CC>TT c.(448-450)tcc>tTT p.S150F NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA. 150 Pro-rich. integral to membrane kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CCCATTCTCTCCCTGTTAGCTT 0.599000 355 106 0 0 0.004672 0 0 CNTN5 53942 broad.mit.edu 37 11 100126527 100126527 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:100126527G>A uc001pga.3 + 16 2545 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K CNTN5_uc001pfz.3_Missense_Mutation_p.E681K|CNTN5_uc021qpb.1_Missense_Mutation_p.E681K|CNTN5_uc021qpc.1_Missense_Mutation_p.E607K|CNTN5_uc010ruk.2_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 681 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) AATTGTTGAGGAAATAACCGA 0.478000 14 44 0 0 0.014410 0 0 MBD3 53615 broad.mit.edu 37 19 1578395 1578395 + Missense_Mutation SNP C G G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:1578395C>G uc002ltj.3 - 5 842 c.820G>C c.(820-822)Gac>Cac p.D274H AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Missense_Mutation_p.D242H|MBD3_uc002ltl.1_Missense_Mutation_p.D274H NM_003926 NP_003917 O95983 MBD3_HUMAN Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA. 274 Poly-Glu. transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) tcctcctcgtcttcctcgtcg 0.716000 25 21 0 0 0.008871 0 0 MEPE 56955 broad.mit.edu 37 4 88767038 88767038 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:88767038G>A uc021xpx.1 + 3 1123 c.1111G>A c.(1111-1113)Gat>Aat p.D371N MEPE_uc021xpu.1_Missense_Mutation_p.D340N|MEPE_uc021xpv.1_Missense_Mutation_p.D227N|MEPE_uc021xpw.1_Missense_Mutation_p.D227N|MEPE_uc010ikn.3_Missense_Mutation_p.D227N|MEPE_uc003hqy.3_Missense_Mutation_p.D340N|MEPE_uc021xpy.1_Missense_Mutation_p.D227N NM_001184697 NP_001171626 Q9NQ76 MEPE_HUMAN Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA. 340 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.D340N(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GGGCAGCAACGATATCATGGG 0.473000 8 42 0 0 0.008740 0 0 FOXN2 3344 broad.mit.edu 37 2 48586205 48586205 + Missense_Mutation SNP T C C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:48586205T>C uc002rwh.1 + 3 872 c.557T>C c.(556-558)tTa>tCa p.L186S NM_002158 NP_002149 P32314 FOXN2_HUMAN Homo sapiens forkhead box N2 (FOXN2), mRNA. 186 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) AAAGGTTCCTTATGGTGTGTT 0.343000 19 13 0 0 0.003163 0 0 EEF1D 1936 broad.mit.edu 37 8 144671200 144671200 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:144671200C>T uc003yyq.2 - 0 1431 c.1202G>A c.(1201-1203)gGt>gAt p.G401D EEF1D_uc003yyp.2_Missense_Mutation_p.G351D|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Missense_Mutation_p.G351D|EEF1D_uc003yyr.3_Missense_Mutation_p.G351D|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron NM_032378 NP_115754 P29692 EF1D_HUMAN Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA. 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AGACCGAGGACCGGGTCGGTG 0.692000 46 10 0 0 0.006214 0 0 NGEF 25791 broad.mit.edu 37 2 233834931 233834931 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:233834931C>T uc002vts.2 - 2 624 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 126 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). 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) TACCTCATTTCCTGGGCTCCT 0.498000 37 28 0 0 0.006320 0 0 KCNIP4 80333 broad.mit.edu 37 4 20734378 20734378 + Missense_Mutation SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:20734378C>T uc021xmt.1 - 6 688 c.568G>A c.(568-570)Gat>Aat p.D190N KCNIP4_uc003gqe.2_Missense_Mutation_p.D173N|KCNIP4_uc003gqf.1_Missense_Mutation_p.D169N|KCNIP4_uc003gqg.1_Missense_Mutation_p.D128N|KCNIP4_uc003gqh.1_Missense_Mutation_p.D165N|KCNIP4_uc003gqi.1_Missense_Mutation_p.D128N|KCNIP4_uc021xmu.1_Missense_Mutation_p.D156N|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.D153N NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 190 EF-hand 3. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) CCCATCATATCGTATATTGCT 0.378000 29 22 0 0 0.014323 0 0 OR9G4 283189 broad.mit.edu 37 11 56510999 56510999 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:56510999G>A uc010rjo.2 - 0 289 c.289C>T c.(289-291)Ctg>Ttg p.L97L NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA. 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CAACTGGCCAGGATTTTGGGG 0.438000 83 52 0 0 0.014410 0 0 CTNND2 1501 broad.mit.edu 37 5 10992701 10992701 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:10992701G>A uc003jfa.1 - 18 3318 c.3173C>T c.(3172-3174)tCc>tTc p.S1058F CTNND2_uc010itt.2_Missense_Mutation_p.S967F|CTNND2_uc011cmy.1_Missense_Mutation_p.S721F|CTNND2_uc011cmz.1_Missense_Mutation_p.S625F|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S650F NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 1058 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AGGGGAGATGGAGGGCGTGCG 0.572000 43 36 0 0 0.007835 0 0 LGSN 51557 broad.mit.edu 37 6 63990777 63990777 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:63990777G>A uc003peh.3 - 3 713 c.679C>T c.(679-681)Cct>Tct p.P227S LGSN_uc003pei.3_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 227 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) GTTAAAGCAGGAAAAGATATA 0.398000 29 16 0 0 0.004007 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657077 46657077 + Missense_Mutation SNP A T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr22:46657077A>T uc003bhh.3 - 0 2143 c.2143T>A c.(2143-2145)Tcc>Acc p.S715T NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 715 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TTCAAAACGGAAGCTACTATA 0.398000 53 22 0 0 0.012319 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245645 137245645 + Silent SNP C G G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:137245645C>G uc003qhe.3 + 1 1227 c.1062C>G c.(1060-1062)ggC>ggG p.G354G NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA. 354 carbohydrate transport integral to membrane p.G354G(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CAGCAGGTGGCCCCGCTCAGG 0.652000 16 15 0 0 0.003163 0 0 WASH1 100287171 broad.mit.edu 37 16 66940 66940 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr16:66940G>A uc002cfg.1 - 4 1355 c.696C>T c.(694-696)agC>agT p.S232S NM_182905 NP_878908 A8K0Z3 WASH1_HUMAN Homo sapiens WAS protein family homolog 1 (WASH1), mRNA. 219 Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi WASH complex|early endosome membrane|recycling endosome membrane actin binding|alpha-tubulin binding p.S232S(1) all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCTCTCTCTTGCTGATGGACA 0.597000 39 8 0 0 0.002450 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184607856 184607856 + Silent SNP A T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:184607856A>T uc003ivx.3 + 17 2050 c.1848A>T c.(1846-1848)ccA>ccT p.P616P TRAPPC11_uc003ivw.3_Silent_p.P616P|TRAPPC11_uc010isc.3_Intron|TRAPPC11_uc003ivy.3_Silent_p.P222P NM_021942 NP_068761 Q7Z392 CD041_HUMAN Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA. 616 CTGATTGTCCACATCCCATTA 0.368000 184 84 0 0 0.014410 0 0 GRIA4 2893 broad.mit.edu 37 11 105795269 105795269 + Missense_Mutation SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:105795269G>A uc001pix.2 + 11 2067 c.1621G>A c.(1621-1623)Gat>Aat p.D541N GRIA4_uc001piw.2_Missense_Mutation_p.D541N NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 541 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TTCCTTCTTGGATCCTCTGGC 0.423000 11 37 0 0 0.005524 0 0 PELP1 27043 broad.mit.edu 37 17 4575136 4575136 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:4575136G>A uc002fyi.4 - 15 3376 c.3150C>T c.(3148-3150)ccC>ccT p.P1050P PELP1_uc010vsf.2_Silent_p.P826P NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 1050 Glu-rich.|Pro-rich. transcription, DNA-dependent MLL1 complex|cytoplasm protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CAAGCTCCTGGGGAGGGGGCC 0.657000 33 15 0 0 0.004007 0 0 LRIT2 340745 broad.mit.edu 37 10 85981769 85981769 + Silent SNP G A A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr10:85981769G>A uc010qmc.2 - 3 1598 c.1590C>T c.(1588-1590)tcC>tcT p.S530S LRIT2_uc001kcy.3_Silent_p.S520S NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 520 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GTTCTCTAAAGGAGCCATCCT 0.597000 25 65 0 0 0.014410 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389632 150389632 + Silent SNP C T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:150389632C>T uc003who.3 + 2 346 c.258C>T c.(256-258)gaC>gaT p.D86D NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 86 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTGGAAGGAccactgtgaag 0.502000 21 20 0 0 0.007413 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + Splice_Site SNP G C C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr3:197348739G>C uc011bug.2 - 4 c.352_splice c.e4-1 LOC220729_uc003fxy.3_Splice_Site|LOC220729_uc010iao.2_Intron Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA. TAATTTTCTAGCTGTGAAAGA 0.398000 73 4 0 0 0.003080 0 0 ATAD2 29028 broad.mit.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - T T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:124384892_124384893insT uc003yqh.4 - 2 462_463 c.354_355insA c.(352-357)aaagaafs p.K118fs ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Frame_Shift_Ins_p.K118fs NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA. 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.E119fs*8(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTGTGCTCTTCTTTTTTTTTAT 0.267 --- 216 --- --- 7 --- DDX12P 440081 broad.mit.edu 37 12 9573263 9573266 + RNA DEL AAGG - - rs67134115 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr12:9573263_9573266delAAGG uc021qut.1 - 10 c.2132_2135delCCTT DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA. TCGTCCATCTaaggaaggaaggaa 0.593 --- 66 --- --- 7 --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - GGGGCGCAGCAGCTG GGGGCGCAGCAGCTG rs71199613 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr21:46012219_46012220insGGGGCGCAGCAGCTG uc002zfm.3 - 0 167_168 c.146_147insCAGCTGCTGCGCCCC c.(145-147)ccg>ccCAGCTGCTGCGCCCCg p.49_49P>PSCCAP TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198688 NP_941961 P60371 KR106_HUMAN Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA. 49 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 --- 51 --- --- 9 ---