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 LILRA4 23547 broad.mit.edu 37 19 54849767 54849767 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:54849767G>A ENST00000291759.4 - 3 311 c.255C>T c.(253-255)atC>atT p.I85I NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 85 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TCATGGATGGGATGGAGAGTT 0.537000 95 60 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4213897 4213897 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:4213897G>A ENST00000404826.2 + 33 4983 c.4844G>A c.(4843-4845)aGg>aAg p.R1615K SDK1_ENST00000389531.3_Missense_Mutation_p.R1615K NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1615 Fibronectin type-III 10. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAGGGATACAGGATCTACTAC 0.552000 84 486 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897940 36897940 + Nonsense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:36897940C>T ENST00000301807.6 - 12 3388 c.1491G>A c.(1489-1491)tgG>tgA p.W497* TRANK1_ENST00000429976.2_Nonsense_Mutation_p.W1047*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.W497* NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1047 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGAATTTCTTCCACAATCTGT 0.532000 29 18 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123366138 123366138 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:123366138G>A ENST00000360772.3 - 28 4930 c.4552C>T c.(4552-4554)Cac>Tac p.H1518Y MYLK_ENST00000360304.3_Missense_Mutation_p.H1518Y|MYLK_ENST00000359169.1_Missense_Mutation_p.H1518Y|MYLK_ENST00000354792.5_Missense_Mutation_p.H318Y|MYLK_ENST00000346322.5_Missense_Mutation_p.H1449Y|MYLK_ENST00000475616.1_Missense_Mutation_p.H1518Y Q15746 MYLK_HUMAN myosin light chain kinase 1518 Protein kinase. H -> P (in Ref. 5; AAR29061/AAR29062). 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) AGCTTAGGGTGGTGGAGGCAG 0.512000 26 48 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5744373 5744373 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:5744373G>A ENST00000356134.5 - 18 1835 c.1764C>T c.(1762-1764)gtC>gtT p.V588V ANO2_ENST00000327087.8_Silent_p.V587V|ANO2_ENST00000546188.1_Silent_p.V588V NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 592 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GGATGAGGATGACCACGAGGT 0.527000 5 44 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58967083 58967083 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:58967083G>A ENST00000391696.1 + 3 1674 c.742G>A c.(742-744)Gaa>Aaa p.E248K ZNF324B_ENST00000336614.4_Missense_Mutation_p.E258K|ZNF324B_ENST00000545523.1_Missense_Mutation_p.E258K Q6AW86 Z324B_HUMAN zinc finger protein 324B 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) GAAGTCCTTCGAATGCAGGGC 0.657000 20 17 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32065783 32065783 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:32065783C>T ENST00000375244.3 - 2 394 c.193G>A c.(193-195)Gaa>Aaa p.E65K TNXB_ENST00000375247.2_Missense_Mutation_p.E65K|TNXB_ENST00000479795.1_Missense_Mutation_p.E65K P22105 TENX_HUMAN tenascin XB 65 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCCCCTCCTTCCACTGTGTGC 0.657000 32 38 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 5 36 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982376 57982376 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:57982376G>A ENST00000309433.6 + 1 160 c.160G>A c.(160-162)Ggg>Agg p.G54R NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) CACTGTGATTGGGAACGGGCT 0.448000 60 193 0 0 1 0 0 DLX3 1747 broad.mit.edu 37 17 48069149 48069149 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:48069149G>A ENST00000434704.2 - 3 821 c.596C>T c.(595-597)cCc>cTc p.P199L DLX3_ENST00000512495.2_Missense_Mutation_p.P79L NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 199 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 ACTGTTATTGGGACTGTGCTC 0.592000 58 95 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444709 20444709 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:20444709C>T ENST00000305051.5 + 1 1107 c.1032C>T c.(1030-1032)ttC>ttT p.F344F NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 344 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGTTCTTTTCCTAGAAACAA 0.388000 20 21 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19485589 19485589 + Missense_Mutation SNP T T A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:19485589T>A ENST00000396229.2 + 12 2830 c.2081T>A c.(2080-2082)cTc>cAc p.L694H TMC5_ENST00000564959.1_Missense_Mutation_p.L377H|TMC5_ENST00000542583.2_Missense_Mutation_p.L694H|TMC5_ENST00000541464.1_Missense_Mutation_p.L642H|TMC5_ENST00000381414.4_Missense_Mutation_p.L694H|TMC5_ENST00000219821.5_Missense_Mutation_p.L448H|TMC5_ENST00000561503.1_Missense_Mutation_p.L335H NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 694 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTCTACGTTCTCCTGATCCGG 0.507000 87 72 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43067760 43067760 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:43067760G>A ENST00000267890.6 - 13 1679 c.1571C>T c.(1570-1572)cCt>cTt p.P524L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 524 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TGCCTGCTCAGGGGTGTTGGC 0.488000 30 105 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141802440 141802440 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:141802440G>A ENST00000475668.2 + 69 8028 c.7974G>A c.(7972-7974)ggG>ggA p.G2658G MGAM_ENST00000549489.2_Silent_p.G1762G O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1762 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) ATACCTATGGGAAAGGACTCT 0.418000 11 24 0 0 1 0 0 LYNX1 66004 broad.mit.edu 37 8 143846097 143846097 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:143846097C>T ENST00000335822.5 - 5 949 c.322G>A c.(322-324)Gat>Aat p.D108N RP11-706C16.7_ENST00000523657.1_RNA|LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000317543.7_Missense_Mutation_p.D74N NM_023946.2 NP_076435.1 Q86SR0 SLUR2_HUMAN Ly6/neurotoxin 1 74 extracellular region endometrium(1)|lung(2)|skin(1) 4 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGGGGATATCGGGGCAGCCT 0.632000 57 122 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31308858 31308858 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:31308858C>T ENST00000544665.3 + 13 1451 c.1380C>T c.(1378-1380)tcC>tcT p.S460S ITGAM_ENST00000287497.8_Silent_p.S460S NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 460 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TCGGGGCCTCCCTCTGCTCCG 0.592000 73 146 0 0 1 0 0 TRBV28 28559 broad.mit.edu 37 7 142428803 142428803 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:142428803C>T ENST00000390400.2 + 0 183 GTTCTGGTATCGACAAGACCC 0.423000 13 54 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135984183 135984183 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:135984183G>A ENST00000393160.3 - 5 843 c.490C>T c.(490-492)Ccc>Tcc p.P164S RALGDS_ENST00000372050.3_Missense_Mutation_p.P219S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.P218S|RALGDS_ENST00000372047.3_Missense_Mutation_p.P207S|RALGDS_ENST00000372062.3_Missense_Mutation_p.P190S|RALGDS_ENST00000542690.1_Missense_Mutation_p.P290S NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 219 N-terminal Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TTGAGGCAGGGAAAGTCCGGA 0.632000 T CIITA """PMBL, Hodgkin Lymphona, """ 19 25 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21008062 21008062 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:21008062C>T ENST00000381545.3 + 4 404 c.185C>T c.(184-186)tCc>tTc p.S62F LST3_ENST00000540229.1_Missense_Mutation_p.S62F|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S62F|LST3_ENST00000381541.3_Missense_Mutation_p.S62F|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S62F|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S62F NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 62 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.S62Y(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TTTGACATATCCTCTTCTCTT 0.328000 27 29 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638020 234638020 + Missense_Mutation SNP C C T rs143192251 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:234638020C>T ENST00000482026.1 + 1 267 c.248C>T c.(247-249)tCg>tTg p.S83L UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) TATGCCATTTCGTGGACCCAG 0.468000 86 86 0 0 1 0 0 STAM 8027 broad.mit.edu 37 10 17702529 17702529 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:17702529T>C ENST00000377524.3 + 2 322 c.107T>C c.(106-108)gTt>gCt p.V36A STAM_ENST00000540523.1_5'UTR NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 36 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TGTGATAAAGTTGGTCAGTCT 0.413000 42 31 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8722157 8722157 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:8722157G>A ENST00000378641.3 + 23 2935 c.2460G>A c.(2458-2460)atG>atA p.M820I PLCB1_ENST00000378637.2_Missense_Mutation_p.M820I|PLCB1_ENST00000338037.6_Missense_Mutation_p.M820I|PLCB1_ENST00000494924.1_3'UTR NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 820 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGAACCTGATGGAACAGAGAG 0.373000 31 31 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164786620 164786620 + Splice_Site SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:164786620C>T ENST00000264382.3 - 5 436 c.e5-1 NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 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) GCTTCAACTCCTTAAAGAATA 0.299000 HNSCC(35;0.089) 32 103 0 0 1 0 0 GYPA 2993 broad.mit.edu 37 4 145038046 145038046 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:145038046C>T ENST00000360771.4 - 5 433 c.318G>A c.(316-318)acG>acA p.T106T GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000503627.1_Silent_p.T61T|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000324022.10_Silent_p.T73T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPB_ENST00000283126.7_Intron NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) 106 interspecies interaction between organisms membrane fraction receptor activity p.T106T(1) central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) TTAAGAGGATCGTTCCAATAA 0.358000 63 66 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708144 29708144 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr22:29708144G>A ENST00000406549.3 + 6 1173 c.1023G>A c.(1021-1023)tcG>tcA p.S341S GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 358 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CCTCCTCTTCGTCCCTCAGCG 0.657000 5 207 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92837993 92837993 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:92837993C>T ENST00000394468.2 - 4 989 c.912G>A c.(910-912)gaG>gaA p.E304E HEPACAM2_ENST00000341723.4_Silent_p.E292E|HEPACAM2_ENST00000440868.1_Silent_p.E292E|HEPACAM2_ENST00000453812.2_Silent_p.E327E NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 304 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 GGGCTACTTTCTCAGATGCAA 0.448000 20 94 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8224227 8224227 + Missense_Mutation SNP A A T rs140557878 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:8224227A>T ENST00000361926.3 + 16 2552 c.2442A>T c.(2440-2442)gaA>gaT p.E814D ARHGEF15_ENST00000421050.1_Missense_Mutation_p.E814D NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 814 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GGGAACACGAAAGGAGGAGGC 0.612000 50 14 0 0 1 0 0 NARF 26502 broad.mit.edu 37 17 80430572 80430572 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:80430572C>T ENST00000390006.4 + 5 815 c.341C>T c.(340-342)cCt>cTt p.P114L NARF_ENST00000345415.7_Missense_Mutation_p.P125L|NARF_ENST00000457415.3_Missense_Mutation_p.P173L|NARF_ENST00000309794.10_Missense_Mutation_p.P173L|NARF_ENST00000412079.2_Intron|NARF_ENST00000581743.1_3'UTR NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 173 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCTGCCTGTCCTGGTGAGCCC 0.562000 31 53 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500767 90500767 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:90500767C>T ENST00000325643.5 + 4 1431 c.1365C>T c.(1363-1365)gtC>gtT p.V455V NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CGACCACAGTCTGGGTTTCTA 0.542000 75 109 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642537 179642537 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:179642537G>A ENST00000589042.1 - 25 4598 c.4374C>T c.(4372-4374)gtC>gtT p.V1458V TTN_ENST00000342992.6_Silent_p.V1458V|TTN_ENST00000460472.2_Silent_p.V1412V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Silent_p.V1458V|TTN_ENST00000359218.5_Silent_p.V1412V|TTN_ENST00000342175.6_Silent_p.V1412V|TTN_ENST00000360870.5_Silent_p.V1458V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1458 Ig-like 6. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAACACAAAGACTGGTTTAT 0.453000 41 57 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124311253 124311253 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:124311253C>T ENST00000409039.3 + 24 3870 c.3845C>T c.(3844-3846)tCt>tTt p.S1282F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1282 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAGAATGGTCTCAGACCCTT 0.473000 44 13 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31855553 31855553 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:31855553C>T ENST00000396184.3 - 16 2002 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.E600K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E600K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E600K|PDE1C_ENST00000396193.1_Missense_Mutation_p.E660K NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 600 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TGTTGCTGTTCTCCTGATGAC 0.448000 126 198 0 0 1 0 0 DSCR3 10311 broad.mit.edu 37 21 38610784 38610784 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:38610784G>A ENST00000288304.5 - 3 994 c.202C>T c.(202-204)Cat>Tat p.H68Y DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Missense_Mutation_p.H110Y|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000309117.6_Missense_Mutation_p.H110Y|DSCR3_ENST00000398998.1_Missense_Mutation_p.H62Y|DSCR3_ENST00000399001.1_Intron O14972 DSCR3_HUMAN Down syndrome critical region gene 3 110 vacuolar transport nucleus|retromer complex endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 AACACGCCATGATACGTCTCA 0.448000 33 86 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540481 133540481 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:133540481G>A ENST00000409261.1 - 14 4276 c.3903C>T c.(3901-3903)atC>atT p.I1301I NCKAP5_ENST00000317721.6_Silent_p.I1301I|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1301 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TATTGGTAATGATCTGAGTGC 0.562000 59 68 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26582060 26582060 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:26582060C>T ENST00000252992.4 + 4 738 c.607C>T c.(607-609)Cac>Tac p.H203Y CEP85_ENST00000451429.2_Missense_Mutation_p.H152Y NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 203 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 AGATCCTCACCACCGAGTCCG 0.507000 56 127 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 144 120 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25440072 25440072 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:25440072C>T ENST00000424208.1 + 0 1460 SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 TGGGTTGGGTCGATGATGAGA 0.522000 159 210 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152695823 152695823 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:152695823G>A ENST00000360283.6 - 13 1531 c.1274C>T c.(1273-1275)tCt>tTt p.S425F CACNB4_ENST00000397327.2_Missense_Mutation_p.S411F|CACNB4_ENST00000427385.1_Missense_Mutation_p.S440F|CACNB4_ENST00000201943.5_Missense_Mutation_p.S396F|CACNB4_ENST00000534999.1_Missense_Mutation_p.S424F|CACNB4_ENST00000539935.1_Missense_Mutation_p.S458F O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 458 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) ATTTTCATCAGAGGTCATTAG 0.418000 21 102 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102951 22102951 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:22102951G>A ENST00000542433.1 - 1 145 c.48C>T c.(46-48)ttC>ttT p.F16F NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CCAGAAGAATGAAATCTGTCA 0.458000 29 93 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409262 28409262 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:28409262T>C ENST00000337532.5 - 11 1024 c.748A>G c.(748-750)Aag>Gag p.K250E MPP7_ENST00000445954.2_Missense_Mutation_p.K125E|MPP7_ENST00000375719.3_Missense_Mutation_p.K250E|MPP7_ENST00000540098.1_Missense_Mutation_p.K250E|MPP7_ENST00000375732.1_Missense_Mutation_p.K250E NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 250 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 CCAGCTTCCTTACATGGAATT 0.373000 38 49 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44323423 44323423 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:44323423C>T ENST00000354250.2 + 3 370 c.301C>T c.(301-303)Ccc>Tcc p.P101S NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) TAGTCCCAGTCCCAGTGGCAG 0.468000 103 60 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24188831 24188831 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:24188831G>A ENST00000265769.4 + 12 1382 c.1272G>A c.(1270-1272)ggG>ggA p.G424G ADAM28_ENST00000540823.1_Silent_p.G191G|ADAM28_ENST00000397649.3_Silent_p.G171G|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Silent_p.G424G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 424 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GTGATTGTGGGACATCTGAGG 0.403000 22 46 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43450556 43450556 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:43450556C>T ENST00000282041.5 - 36 6235 c.6201G>A c.(6199-6201)caG>caA p.Q2067Q EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2067 autophagy p.Q2067H(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CCATGAGCATCTGGTCAGGGT 0.517000 9 56 0 0 1 0 0 HHLA3 11147 broad.mit.edu 37 1 70832139 70832139 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:70832139G>A ENST00000370940.5 + 2 289 c.173G>A c.(172-174)gGa>gAa p.G58E HHLA3_ENST00000531950.1_Silent_p.R90R|HHLA3_ENST00000432224.1_Missense_Mutation_p.G91E|HHLA3_ENST00000359875.5_Silent_p.R90R|HHLA3_ENST00000361764.4_Missense_Mutation_p.E57K NM_001031693.2|NM_001036646.1 NP_001026863.1|NP_001031723.1 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 0 protein binding large_intestine(3)|lung(1) 4 CTtgtcaacggaaaggggtcc 0.333000 8 38 0 0 1 0 0 B4GALNT4 338707 broad.mit.edu 37 11 372917 372917 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:372917G>A ENST00000329962.6 + 4 414 c.414G>A c.(412-414)agG>agA p.R138R NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 138 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) 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) GCCACCTGAGGAGGAACCTGC 0.672000 12 48 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70983763 70983763 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:70983763G>A ENST00000357250.6 - 12 1210 c.1052C>T c.(1051-1053)tCg>tTg p.S351L COL9A1_ENST00000320755.7_Missense_Mutation_p.S108L|COL9A1_ENST00000370499.4_Missense_Mutation_p.S108L|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 351 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AAATCCACGCGATCCAGGCAC 0.294000 28 14 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184769774 184769774 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:184769774C>T ENST00000287546.4 + 47 4419 c.4248C>T c.(4246-4248)ttC>ttT p.F1416F VPS8_ENST00000446204.2_Silent_p.F1324F|VPS8_ENST00000437079.3_Silent_p.F1416F|VPS8_ENST00000436792.2_Silent_p.F1414F NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1416 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATGAGAACTTCCAGCTGCAGC 0.562000 40 52 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14722497 14722497 + Silent SNP G G A rs145324660 byFrequency TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:14722497G>A ENST00000380911.3 - 1 218 c.174C>T c.(172-174)gtC>gtT p.V58V NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 58 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) GTGGCACTGCGACAAACAGAT 0.542000 46 49 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10914364 10914364 + Splice_Site SNP G G A rs147105244 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:10914364G>A ENST00000298232.7 - 20 1668 c.1302_splice c.e20+1 p.S434_splice TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S414_splice|TPTE_ENST00000361285.4_Splice_Site_p.S452_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 452 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.S434L(1)|p.S452L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TTCTCTTACCGAACATTTTCC 0.323000 20 69 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969364 140969364 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:140969364G>A ENST00000298296.1 + 4 691 c.691G>A c.(691-693)Gag>Aag p.E231K MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 231 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GAAAGCCCGTGAGTTCATAGA 0.443000 73 15 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11565118 11565118 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:11565118G>A ENST00000304623.8 - 3 414 c.225C>T c.(223-225)atC>atT p.I75I CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I75I|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 75 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 GGCTGGCTACGATCTGCCGTT 0.512000 25 8 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142411 5142411 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:5142411G>A ENST00000498233.1 - 0 987 p.P133H(1) breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) ACGCCTCAGAGGATAACAGAT 0.483000 26 34 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519565 113519565 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:113519565C>T ENST00000284601.3 - 4 1650 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 528 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 CTTTGTTTTTCATTAACACCT 0.348000 24 57 0 0 1 0 0 DEDD 9191 broad.mit.edu 37 1 161092132 161092132 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:161092132G>A ENST00000392188.1 - 6 1086 c.852C>T c.(850-852)acC>acT p.T284T DEDD_ENST00000545495.1_Silent_p.T254T|DEDD_ENST00000368005.1_Silent_p.T284T|DEDD_ENST00000489249.1_5'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Silent_p.T254T|DEDD_ENST00000458050.2_Silent_p.T254T O75618 DEDD_HUMAN death effector domain containing 254 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CATCGAGGTAGGTGAGCTCAG 0.517000 97 98 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133779442 133779442 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:133779442T>C ENST00000253018.4 - 6 1208 c.490A>G c.(490-492)Acc>Gcc p.T164A FIBCD1_ENST00000372337.2_3'UTR|FIBCD1_ENST00000448616.1_3'UTR|FIBCD1_ENST00000372338.4_3'UTR Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 34 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) AAGGACAAGGTGCACCAGTCT 0.637000 4 12 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154108436 154108436 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:154108436G>A ENST00000368559.3 - 7 934 c.863C>T c.(862-864)cCc>cTc p.P288L NUP210L_ENST00000271854.3_Missense_Mutation_p.P288L NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 288 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) ATGTTCCAGGGGAAATTTCAC 0.388000 36 44 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415786 57415786 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:57415786G>A ENST00000313949.7 + 1 1014 c.625G>A c.(625-627)Gag>Aag p.E209K GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E209K|GNAS_ENST00000371098.2_Missense_Mutation_p.E209K|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA P63092 GNAS2_HUMAN GNAS complex locus 331 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGAGTCGAAGGAGCCCAAGGA 0.657000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 10 24 0 0 1 0 0 RSPH9 221421 broad.mit.edu 37 6 43623379 43623379 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:43623379C>T ENST00000372165.4 + 3 482 c.429C>T c.(427-429)gcC>gcT p.A143A RSPH9_ENST00000372163.4_Silent_p.A158A NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 158 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCCGAGGCGCCCTCTTCAAGA 0.567000 Kartagener syndrome 163 224 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154960568 154960568 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:154960568C>T ENST00000368431.3 + 3 883 c.63C>T c.(61-63)ccC>ccT p.P21P FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000405236.2_Silent_p.P21P|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000487371.1_Intron NM_001184892.1 NP_001171821.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 0 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCATCTTCCCCTTCAACCCCC 0.557000 135 210 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41256241 41256241 + Missense_Mutation SNP G G C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:41256241G>C ENST00000357654.3 - 6 457 c.339C>G c.(337-339)aaC>aaG p.N113K BRCA1_ENST00000493795.1_Missense_Mutation_p.N66K|BRCA1_ENST00000491747.2_Missense_Mutation_p.N113K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.N113K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N113K|BRCA1_ENST00000352993.3_Missense_Mutation_p.N113K|BRCA1_ENST00000468300.1_Missense_Mutation_p.N113K|BRCA1_ENST00000346315.3_Missense_Mutation_p.N113K|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000354071.3_Missense_Mutation_p.N113K|BRCA1_ENST00000586385.1_Intron NM_007294.3 NP_009225.1 P38398 BRCA1_HUMAN breast cancer 1, early onset 113 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GTTCAGGAGAGTTATTTTCCT 0.333000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 57 71 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59556124 59556124 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:59556124C>T ENST00000393853.4 + 6 849 c.686C>T c.(685-687)tCc>tTc p.S229F TBX4_ENST00000240335.1_Missense_Mutation_p.S229F|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 229 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 TCTGTGACCTCCTACCAGAAT 0.542000 82 105 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409261 28409261 + Missense_Mutation SNP T T C rs112460703 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:28409261T>C ENST00000337532.5 - 11 1025 c.749A>G c.(748-750)aAg>aGg p.K250R MPP7_ENST00000445954.2_Missense_Mutation_p.K125R|MPP7_ENST00000375719.3_Missense_Mutation_p.K250R|MPP7_ENST00000540098.1_Missense_Mutation_p.K250R|MPP7_ENST00000375732.1_Missense_Mutation_p.K250R NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 250 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 CCCAGCTTCCTTACATGGAAT 0.378000 38 49 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812807 38812807 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:38812807G>A ENST00000449082.2 - 4 561 c.562C>T c.(562-564)Cct>Tct p.P188S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 188 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) CAGTTCCAAGGATCTCTCAGG 0.443000 70 80 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100672490 100672490 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:100672490G>A ENST00000375119.3 - 4 894 c.818C>T c.(817-819)cCa>cTa p.P273L C9orf156_ENST00000478126.1_5'UTR NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 273 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) TGGGCAATATGGGCCAATTTG 0.473000 38 43 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48627937 48627937 + Missense_Mutation SNP C C T rs143391124 by1000genomes TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:48627937C>T ENST00000328333.8 - 14 1968 c.1861G>A c.(1861-1863)Gtc>Atc p.V621I COL7A1_ENST00000454817.1_Missense_Mutation_p.V621I NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 621 Fibronectin type-III 5.|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) GCTCCAGGGACGGGTCCCCAG 0.602000 26 98 0 0 1 0 0 SPDYA 245711 broad.mit.edu 37 2 29039061 29039061 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:29039061G>A ENST00000334056.5 + 3 370 c.181G>A c.(181-183)Gga>Aga p.G61R SPDYA_ENST00000379579.4_Missense_Mutation_p.G61R|SPDYA_ENST00000462832.1_3'UTR NM_182756.3 NP_877433.2 Q5MJ70 SPDYA_HUMAN speedy/RINGO cell cycle regulator family member A 61 G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) ACGCCCCAAAGGACCTTGTCT 0.318000 62 64 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768889 57768889 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:57768889C>T ENST00000371030.2 + 1 2815 c.2815C>T c.(2815-2817)Ccc>Tcc p.P939S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 939 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) TGCCTTTTCCCCCAAGTACCT 0.632000 34 108 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120770221 120770221 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:120770221G>A ENST00000310396.5 + 12 1917 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K CPED1_ENST00000423795.1_Missense_Mutation_p.E264K|CPED1_ENST00000450913.2_Missense_Mutation_p.E484K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 ACTGATGCATGAATTTTATGA 0.353000 99 100 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5730874 5730874 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:5730874C>T ENST00000379965.3 + 8 1770 c.1493C>T c.(1492-1494)tCc>tTc p.S498F TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 498 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) CCACCGAGCTCCTGAGTGTTC 0.488000 61 57 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223726 44223726 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:44223726C>T ENST00000244314.5 + 2 1215 c.1016C>T c.(1015-1017)tCg>tTg p.S339L NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 339 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) AACGAGGTCTCGCCTGAGACT 0.672000 14 38 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173830404 173830404 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:173830404C>T ENST00000264111.6 + 9 997 c.810C>T c.(808-810)ctC>ctT p.L270L RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000535187.1_Silent_p.L51L|RAPGEF4_ENST00000538974.1_Silent_p.L100L|RAPGEF4_ENST00000539331.1_Silent_p.L118L|RAPGEF4_ENST00000409036.1_Silent_p.L271L|RAPGEF4_ENST00000397081.3_Silent_p.L271L|RAPGEF4_ENST00000397087.3_Silent_p.L127L|RAPGEF4_ENST00000540783.1_Silent_p.L118L Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 271 DEP. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATGGTGTTCTCAACCACGGTA 0.493000 35 56 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5730875 5730875 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:5730875C>T ENST00000379965.3 + 8 1771 c.1494C>T c.(1492-1494)tcC>tcT p.S498S TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 498 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) CACCGAGCTCCTGAGTGTTCT 0.483000 61 58 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186678752 186678752 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:186678752G>A ENST00000343098.5 + 18 20575 c.20575G>A c.(20575-20577)Gaa>Aaa p.E6859K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6770K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ATCTTGGGAGGAAAAGCCCCA 0.448000 12 75 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84373246 84373246 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:84373246C>T ENST00000286744.5 + 3 399 c.175C>T c.(175-177)Cgc>Tgc p.R59C ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59C NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 59 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTCACTTATCGCTATGATGA 0.453000 105 122 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37180593 37180593 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:37180593C>T ENST00000331299.5 - 7 1048 c.533G>A c.(532-534)cGa>cAa p.R178Q SLC25A21_ENST00000555449.1_Missense_Mutation_p.R178Q NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 178 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) AACTCCATGTCGTCCCAAAGT 0.398000 22 50 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341740 121341740 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:121341740C>T ENST00000338040.4 + 3 1878 c.1464C>T c.(1462-1464)ttC>ttT p.F488F NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 488 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) GGGATGAGTTCCCCCTGCACT 0.507000 27 34 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38704942 38704942 + Missense_Mutation SNP A A T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:38704942A>T ENST00000359357.3 + 4 465 c.211A>T c.(211-213)Aac>Tac p.N71Y DNAH8_ENST00000449981.2_Missense_Mutation_p.N288Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.N71Y 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 TGCAACAAACAACTGGGGTGC 0.378000 35 99 0 0 1 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894606 78894606 + Splice_Site SNP A A T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:78894606A>T ENST00000326828.5 - 5 762 c.377_splice c.e5-1 p.N126_splice CHRNA3_ENST00000348639.3_Splice_Site_p.N126_splice NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 126 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCCCAACAGCACTGCAAAGAC 0.478000 20 20 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062335 144062335 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:144062335C>T ENST00000056217.5 + 2 2747 c.2573C>T c.(2572-2574)tCc>tTc p.S858F NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 858 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CCCCCAAAGTCCAGGGGGAGG 0.592000 30 183 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193080389 193080389 + Nonsense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:193080389C>T ENST00000342358.4 - 4 539 c.422G>A c.(421-423)tGg>tAg p.W141* NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 141 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAGGTCGTTCCAAACATACCT 0.458000 81 115 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48594769 48594769 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:48594769G>A ENST00000323776.5 + 3 611 c.449G>A c.(448-450)cGt>cAt p.R150H MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R113H NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 113 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CTTGTAGCACGTCCTGCGAAT 0.493000 35 116 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40870080 40870080 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:40870080G>A ENST00000428826.2 - 10 1058 c.937C>T c.(937-939)Cat>Tat p.H313Y EZH1_ENST00000592743.1_Missense_Mutation_p.H313Y|EZH1_ENST00000435174.1_Missense_Mutation_p.H174Y|EZH1_ENST00000590078.1_Missense_Mutation_p.H243Y|EZH1_ENST00000415827.2_Missense_Mutation_p.H304Y|EZH1_ENST00000585893.1_Missense_Mutation_p.H273Y Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 313 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GGGGTGGCATGAAAAGCTGGA 0.398000 29 36 0 0 1 0 0 BBS12 166379 broad.mit.edu 37 4 123664082 123664082 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:123664082G>A ENST00000542236.1 + 3 1416 c.1035G>A c.(1033-1035)gtG>gtA p.V345V BBS12_ENST00000314218.3_Silent_p.V345V NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 345 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 ATAATCCTGTGATCAAGGAAT 0.398000 Bardet-Biedl syndrome 35 17 0 0 1 0 0 DLL4 54567 broad.mit.edu 37 15 41228858 41228858 + Missense_Mutation SNP G G C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:41228858G>C ENST00000249749.5 + 9 1949 c.1673G>C c.(1672-1674)cGa>cCa p.R558P NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 558 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) CTGCGGCTTCGACGGCCGGAC 0.627000 11 33 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183681340 183681340 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:183681340G>A ENST00000334444.6 - 15 2308 c.2068C>T c.(2068-2070)Cgc>Tgc p.R690C ABCC5_ENST00000265586.6_Missense_Mutation_p.R690C NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 690 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATCCTCTGGCGCTGCCCACCG 0.597000 21 90 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134214955 134214955 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:134214955C>T ENST00000535456.2 + 4 569 c.381C>T c.(379-381)atC>atT p.I127I GLB1L2_ENST00000339772.7_Silent_p.I127I|GLB1L2_ENST00000389881.3_Silent_p.I127I NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 127 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CCGCAGAGATCGGGCTGTGGG 0.662000 6 23 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81298254 81298254 + Missense_Mutation SNP C C T rs147813781 byFrequency TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:81298254C>T ENST00000258168.2 + 5 942 c.481C>T c.(481-483)Cgt>Tgt p.R161C BCMO1_ENST00000425577.2_Missense_Mutation_p.R92C NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 161 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 GGTTGATTATCGTAAATACGT 0.403000 24 55 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37948932 37948932 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:37948932G>A ENST00000346872.3 - 4 479 c.418C>T c.(418-420)Cat>Tat p.H140Y IKZF3_ENST00000535189.1_Missense_Mutation_p.H106Y|IKZF3_ENST00000467757.1_Missense_Mutation_p.H140Y|IKZF3_ENST00000439167.2_Missense_Mutation_p.H106Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.H140Y|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.H140Y|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.H140Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.H140Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.H140Y NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 140 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTACCAGTATGGCTTCGCTTA 0.413000 64 83 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038245 75038245 + Missense_Mutation SNP A A G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:75038245A>G ENST00000326665.5 - 14 3367 c.3149T>C c.(3148-3150)tTa>tCa p.L1050S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1050 Glu-rich. 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 TTCCTTGGGTAAAATTTCTTT 0.453000 141 123 0 0 1 0 0 GRN 2896 broad.mit.edu 37 17 42429029 42429029 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:42429029C>T ENST00000053867.3 + 10 1107 c.1045C>T c.(1045-1047)Cca>Tca p.P349S GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Missense_Mutation_p.P192S NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 349 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GGAGAAGGCCCCAGCTCACCT 0.597000 26 119 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75264654 75264654 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:75264654C>T ENST00000325680.7 + 5 2778 c.2654C>T c.(2653-2655)tCc>tTc p.S885F YLPM1_ENST00000238571.3_Missense_Mutation_p.S690F|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 690 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCTGCATTTTCCATTGCTGCA 0.443000 28 17 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159683618 159683618 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:159683618G>A ENST00000255030.5 - 2 475 c.372C>T c.(370-372)atC>atT p.I124I CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 124 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AGAACTCCACGATCCCTGAGG 0.522000 219 177 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73280104 73280104 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:73280104C>T ENST00000320531.2 + 3 735 c.699C>T c.(697-699)ccC>ccT p.P233P NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 233 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) AGGTTGAACCCCAGGAGGTCT 0.592000 132 164 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25667806 25667806 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:25667806G>A ENST00000382051.3 + 5 486 c.436G>A c.(436-438)Ggg>Agg p.G146R SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G145R|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G145R NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 146 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CCCTTTGTTGGGGCTGGTGAT 0.498000 T ROS1 NSCLC 33 93 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29294939 29294939 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:29294939G>A ENST00000331664.5 - 1 2188 c.2189C>T c.(2188-2190)tCc>tTc p.S730F NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 730 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTTCTTGACGGATGTTCTGGT 0.552000 54 84 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20550739 20550739 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:20550739C>T ENST00000504154.1 + 24 2729 c.2477C>T c.(2476-2478)tCt>tTt p.S826F SLIT2_ENST00000503837.1_Missense_Mutation_p.S822F|SLIT2_ENST00000503823.1_Missense_Mutation_p.S818F|SLIT2_ENST00000273739.5_Missense_Mutation_p.S830F|SLIT2_ENST00000509394.2_3'UTR NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 826 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 GGATTAAAGTCTCTTCGATTA 0.358000 23 23 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21453109 21453109 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:21453109G>A ENST00000269217.6 + 1 306 c.101G>A c.(100-102)aGg>aAg p.R34K LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000587184.1_Missense_Mutation_p.R34K|LAMA3_ENST00000313654.9_Intron NM_000227.3 NP_000218.2 Q16787 LAMA3_HUMAN laminin, alpha 3 0 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCAGCAAAGGGTGCCATTT 0.542000 46 123 0 0 1 0 0 CD7 924 broad.mit.edu 37 17 80275358 80275358 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:80275358G>A ENST00000584284.1 - 1 95 c.14C>T c.(13-15)cCg>cTg p.P5L CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.P5L|CD7_ENST00000583376.1_5'UTR P09564 CD7_HUMAN CD7 molecule 5 immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CAGGAGCCTCGGAGGCCCGGC 0.687000 13 9 0 0 1 0 0 WDSUB1 151525 broad.mit.edu 37 2 160092582 160092582 + Missense_Mutation SNP T T A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:160092582T>A ENST00000409990.3 - 11 1649 c.1393A>T c.(1393-1395)Atg>Ttg p.M465L WDSUB1_ENST00000359774.4_Missense_Mutation_p.M465L|WDSUB1_ENST00000392796.3_Missense_Mutation_p.M465L|WDSUB1_ENST00000409124.1_Missense_Mutation_p.M418L|WDSUB1_ENST00000358147.4_Missense_Mutation_p.M373L NM_001128213.1 NP_001121685.1 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain containing 1 465 U-box. ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 TTGATGGCCATTTTCAGAGTC 0.343000 27 40 0 0 1 0 0 PSKH2 85481 broad.mit.edu 37 8 87076436 87076436 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:87076436C>T ENST00000276616.2 - 2 684 c.610G>A c.(610-612)Gat>Aat p.D204N PSKH2_ENST00000517981.1_5'UTR NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 204 Protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) AAACCAAAATCTGTAATTAAA 0.413000 69 66 0 0 1 0 0 MYD88 4615 broad.mit.edu 37 3 38182010 38182010 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:38182010C>T ENST00000417037.2 + 3 818 c.634C>T c.(634-636)Ctg>Ttg p.L212L MYD88_ENST00000443433.2_Intron|MYD88_ENST00000424893.1_Silent_p.L167L|MYD88_ENST00000396334.3_Silent_p.L212L|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_Intron NM_001172567.1 NP_001166038.1 Q99836 MYD88_HUMAN myeloid differentiation primary response 88 199 TIR. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCGCGATGTCCTGCCTGGCAC 0.552000 Mis ABC-DLBCL 30 133 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23938228 23938228 + Splice_Site SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:23938228C>A ENST00000402377.3 - 2 270 c.130_splice c.e2+1 p.L43_splice ZNF681_ENST00000395385.3_Intron NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TATCCTCACCCAAGAAGACCA 0.343000 50 114 3.76525e-18 3.84162e-18 1 1 0 EGFL7 51162 broad.mit.edu 37 9 139562789 139562789 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:139562789G>A ENST00000371699.1 + 3 966 c.55G>A c.(55-57)Ggc>Agc p.G19S EGFL7_ENST00000406555.3_Missense_Mutation_p.G19S|EGFL7_ENST00000371698.3_Missense_Mutation_p.G19S|EGFL7_ENST00000308874.7_Missense_Mutation_p.G19S|EGFL7_ENST00000492002.1_Intron Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 19 angiogenesis|vasculogenesis calcium ion binding kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GGCAGTGGGCGGCACAGAGCA 0.701000 5 6 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375546 93375546 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:93375546C>T ENST00000375765.3 - 2 952 c.564G>A c.(562-564)agG>agA p.R188R NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 188 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 GCTTCTCTTTCCTTTTCTGCT 0.557000 16 33 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34761848 34761848 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:34761848C>T ENST00000338074.2 + 2 310 c.149C>T c.(148-150)tCc>tTc p.S50F EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S50F NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 50 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) AAGCATCCATCCCAGCAGGAC 0.662000 10 19 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136729061 136729061 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:136729061C>T ENST00000329582.4 + 7 1181 c.932C>T c.(931-933)tCa>tTa p.S311L IL20RB_ENST00000309741.5_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 311 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCCTGGATCTCATAGGTTTGC 0.547000 47 43 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157504668 157504668 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:157504668G>A ENST00000361835.3 - 8 1574 c.1417C>T c.(1417-1419)Cct>Tct p.P473S FCRL5_ENST00000356953.4_Missense_Mutation_p.P473S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P473S|FCRL5_ENST00000368189.3_Missense_Mutation_p.P473S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P388S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 473 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GTGAGGACAGGATGAGACACA 0.498000 21 69 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84806789 84806789 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:84806789G>A ENST00000389394.3 + 14 2352 c.2215G>A c.(2215-2217)Gaa>Aaa p.E739K DNAH6_ENST00000398278.2_Missense_Mutation_p.E739K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E739K NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 739 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 ATTTCTTGATGAAATTCAGGA 0.358000 16 63 0 0 1 0 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847003 32847003 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:32847003C>T ENST00000420261.1 - 0 622 CTATGAACTTCGTGATTTATT 0.368000 6 9 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116747782 116747782 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:116747782C>T ENST00000331677.3 + 4 906 c.462C>T c.(460-462)tcC>tcT p.S154S DSE_ENST00000452085.3_Silent_p.S154S|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Silent_p.S154S|DSE_ENST00000537543.1_Silent_p.S173S Q9UL01 DSE_HUMAN dermatan sulfate epimerase 154 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TTGCTCACTCCCTGGTTGGTT 0.448000 24 40 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120458221 120458221 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:120458221G>A ENST00000256646.2 - 34 7343 c.7124C>T c.(7123-7125)cCt>cTt p.P2375L NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2375 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCTGGGAAAGGATGATAGGC 0.572000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 68 111 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31308857 31308857 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:31308857C>T ENST00000544665.3 + 13 1450 c.1379C>T c.(1378-1380)tCc>tTc p.S460F ITGAM_ENST00000287497.8_Missense_Mutation_p.S460F NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 460 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TTCGGGGCCTCCCTCTGCTCC 0.597000 69 145 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584448 1584448 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:1584448G>A ENST00000381297.4 - 2 1214 c.1004C>T c.(1003-1005)tCc>tTc p.S335F NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 335 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 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) ACCGGCCTCGGAGCGCACGGA 0.701000 T CRLF2 """B-ALL, Downs associated ALL""" 50 76 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370320 35370320 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:35370320G>A ENST00000373347.1 - 3 933 c.665C>T c.(664-666)tCc>tTc p.S222F DLGAP3_ENST00000235180.4_Missense_Mutation_p.S222F O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 222 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) gtggtgatggGAGGTGTGGGG 0.677000 54 69 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77705804 77705804 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:77705804G>A ENST00000298351.4 + 11 919 c.775G>A c.(775-777)Gtc>Atc p.V259I NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 259 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) CTGCTACGACGTCAGGAACCT 0.627000 25 49 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462714 21462714 + Missense_Mutation SNP G G T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:21462714G>T ENST00000281523.2 - 8 1698 c.1180C>A c.(1180-1182)Cct>Act p.P394T NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 394 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 ATTTAGTAAGGAGCAAACAGC 0.438000 17 41 1.56452e-12 1.58023e-12 1 1 0 LHFPL5 222662 broad.mit.edu 37 6 35773744 35773744 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:35773744C>T ENST00000360215.1 + 1 674 c.297C>T c.(295-297)ttC>ttT p.F99F LHFPL5_ENST00000373853.1_Silent_p.F99F NM_182548.3 NP_872354.1 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 99 integral to membrane endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1) 20 CTGCCATGTTCTTTGTGGCCT 0.542000 94 112 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7267855 7267855 + Missense_Mutation SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:7267855C>A ENST00000341500.5 - 2 192 c.153G>T c.(151-153)gaG>gaT p.E51D INSR_ENST00000302850.5_Missense_Mutation_p.E51D NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 51 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGAGCAATTCTCCAGCTCAT 0.483000 4 29 0.00909568 0.0091138 1 1 0 ADH1C 126 broad.mit.edu 37 4 100260747 100260747 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:100260747G>A ENST00000515683.1 - 0 1441 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TTTCCAGAGCGAAGCAGGTCA 0.388000 19 34 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33412023 33412023 + Silent SNP C C T rs113801394 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:33412023C>T ENST00000404816.2 + 6 1655 c.1302C>T c.(1300-1302)gtC>gtT p.V434V LTBP1_ENST00000390003.4_Silent_p.V108V|LTBP1_ENST00000404525.1_Silent_p.V108V|LTBP1_ENST00000402934.1_Silent_p.V108V|LTBP1_ENST00000418533.2_Silent_p.V108V|LTBP1_ENST00000407925.1_Silent_p.V108V|LTBP1_ENST00000354476.3_Silent_p.V434V Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 434 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGATCCCAGTCCATGGTGCCA 0.498000 40 37 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670572 8670572 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:8670572G>A ENST00000270328.4 - 2 290 c.24C>T c.(22-24)ctC>ctT p.L8L ADAMTS10_ENST00000597188.1_Silent_p.L8L|ADAMTS10_ENST00000596709.1_Intron Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 8 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGGCCCAGCGGAGGATCTGGC 0.697000 16 14 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 130985118 130985118 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:130985118T>C ENST00000341179.7 + 9 1267 c.1175T>C c.(1174-1176)aTc>aCc p.I392T DNM1_ENST00000393594.3_Missense_Mutation_p.I392T|DNM1_ENST00000372923.3_Missense_Mutation_p.I392T|DNM1_ENST00000486160.1_Missense_Mutation_p.I392T|DNM1_ENST00000475805.1_Missense_Mutation_p.I392T NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 392 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 AGCTATGCTATCAAGAATATC 0.532000 27 39 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75174475 75174475 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:75174475G>A ENST00000336926.6 - 26 2597 c.2571C>T c.(2569-2571)tcC>tcT p.S857S HIP1_ENST00000434438.2_Silent_p.S806S NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 857 I/LWEQ. 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 ACTCTTTAGGGGATGCTGTAC 0.418000 T PDGFRB CMML 80 99 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141752130 141752130 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:141752130G>A ENST00000475668.2 + 25 2896 c.2842G>A c.(2842-2844)Gaa>Aaa p.E948K MGAM_ENST00000549489.2_Missense_Mutation_p.E948K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 948 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) TCTCCTGGGAGAAGCATACAC 0.433000 15 16 0 0 1 0 0 FAM83H 286077 broad.mit.edu 37 8 144810155 144810155 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:144810155G>A ENST00000388913.3 - 5 1601 c.1476C>T c.(1474-1476)ggC>ggT p.G492G NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 492 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 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) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGGCCCGGCGCCCAGGGTGA 0.761000 3 16 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768890 57768890 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:57768890C>T ENST00000371030.2 + 1 2816 c.2816C>T c.(2815-2817)cCc>cTc p.P939L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 939 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) GCCTTTTCCCCCAAGTACCTC 0.637000 34 111 0 0 1 0 0 AQR 9716 broad.mit.edu 37 15 35189779 35189779 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:35189779G>A ENST00000156471.5 - 21 2596 c.2371C>T c.(2371-2373)Cct>Tct p.P791S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 791 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TGATTATAAGGATAAGGACCC 0.353000 16 68 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103832 53103832 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:53103832G>A ENST00000408890.4 + 1 484 c.468G>A c.(466-468)caG>caA p.Q156Q NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 156 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCCTGGACAGAGAgcccgcc 0.731000 26 37 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70048381 70048381 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:70048381G>A ENST00000358769.2 - 8 752 c.550C>T c.(550-552)Ctg>Ttg p.L184L PBLD_ENST00000277795.4_3'UTR|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Silent_p.L151L|PBLD_ENST00000309049.4_Silent_p.L184L|PBLD_ENST00000432941.1_Silent_p.L184L NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 184 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 ACTTGCAGCAGATTCTCCGTG 0.453000 22 24 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37101346 37101346 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:37101346C>T ENST00000378079.2 - 7 859 c.660G>A c.(658-660)agG>agA p.R220R NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 220 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 GGAGGACATTCCTACAGAAGA 0.398000 41 54 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065218 35065218 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:35065218G>A ENST00000382002.5 - 10 2268 c.1842C>T c.(1840-1842)ccC>ccT p.P614P PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.P513P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Silent_p.P513P|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 614 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TAAAACATGCGGGATCCAGGT 0.438000 15 28 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81706400 81706400 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:81706400G>A ENST00000372292.3 - 2 56 c.16C>T c.(16-18)Ctc>Ttc p.L6F NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 6 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) AGTGCAGAGAGGAGGAAGAGC 0.527000 7 14 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238267869 238267869 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:238267869C>T ENST00000295550.4 - 19 6786 c.6334G>A c.(6334-6336)Gat>Aat p.D2112N COL6A3_ENST00000347401.3_Missense_Mutation_p.D1911N|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1912N|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1505N|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1906N|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1906N NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2112 Collagen-like 2.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.D2112H(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCCAGACCATCCAGTCCAATT 0.408000 37 103 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152276734 152276734 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:152276734C>T ENST00000368799.1 - 3 10663 c.10628G>A c.(10627-10629)aGt>aAt p.S3543N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3543 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) CTGACTGTCACTGTCCTGGCT 0.577000 Ichthyosis 365 277 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136564892 136564892 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:136564892C>T ENST00000264162.2 - 9 3989 c.3979G>A c.(3979-3981)Ggc>Agc p.G1327S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1327 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) ACCGTGTAGCCATTTAGCCAC 0.517000 67 100 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4218134 4218134 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:4218134C>T ENST00000404826.2 + 35 5153 c.5014C>T c.(5014-5016)Cgc>Tgc p.R1672C SDK1_ENST00000389531.3_Missense_Mutation_p.R1652C NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1672 Fibronectin type-III 10. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GAAGTACCGGCGCTATGAAGT 0.527000 67 361 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17609361 17609361 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:17609361G>A ENST00000375460.3 + 16 1822 c.1782G>A c.(1780-1782)ggG>ggA p.G594G NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 594 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGTGCTGGGGAAGCACCTGG 0.617000 11 41 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009792 201009792 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:201009792C>T ENST00000362061.3 - 42 5410 c.5184G>A c.(5182-5184)caG>caA p.Q1728Q RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.Q1709Q NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1728 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) GCATTGCCCTCTGGGTCAGCA 0.607000 16 99 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52610544 52610544 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:52610544C>T ENST00000373995.3 - 3 262 c.4G>A c.(4-6)Gaa>Aaa p.E2K A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000373997.3_Intron|A1CF_ENST00000373993.1_Intron|A1CF_ENST00000282641.2_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.1_Intron NM_138933.2 NP_620311.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 0 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CACACTGCTTCCATCTATAGG 0.413000 37 40 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41663504 41663504 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:41663504G>A ENST00000313860.7 + 14 2003 c.1949G>A c.(1948-1950)gGg>gAg p.G650E LIMCH1_ENST00000513024.1_Missense_Mutation_p.G479E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G638E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G491E|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G650E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1035E|LIMCH1_ENST00000509277.1_Missense_Mutation_p.G484E|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G484E|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G650E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G650E|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G496E|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G491E NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 650 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TCAAGAAAAGGGAATATAGAA 0.348000 OREG0016170 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 14 0 0 1 0 0 BANF1 8815 broad.mit.edu 37 11 65771195 65771195 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:65771195C>T ENST00000312175.2 + 3 730 c.222C>T c.(220-222)tcC>tcT p.S74S BANF1_ENST00000527348.1_Silent_p.S74S|BANF1_ENST00000524628.1_3'UTR|BANF1_ENST00000445560.2_Silent_p.S74S|BANF1_ENST00000533166.1_Silent_p.S74S NM_001143985.1|NM_003860.3 NP_001137457.1|NP_003851.1 O75531 BAF_HUMAN barrier to autointegration factor 1 74 initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus chromosome|cytosol|nucleoplasm DNA binding large_intestine(2)|prostate(1) 3 CCAAGCAGTCCCGGGACTGCT 0.557000 55 50 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884476 64884476 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:64884476T>C ENST00000310597.4 - 1 694 c.650A>G c.(649-651)aAt>aGt p.N217S NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 217 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 GAACAGCACATTGGGCAGCTG 0.682000 9 10 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15917942 15917942 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:15917942C>T ENST00000334920.2 - 1 994 c.906G>A c.(904-906)atG>atA p.M302I NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 AGGTCTTCTTCATGGCGACCT 0.458000 19 77 0 0 1 0 0 TMEM155 132332 broad.mit.edu 37 4 122682721 122682721 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:122682721G>A ENST00000337677.5 - 5 742 c.184C>T c.(184-186)Cgc>Tgc p.R62C TMEM155_ENST00000394394.1_Missense_Mutation_p.R62C|TMEM155_ENST00000394396.1_Missense_Mutation_p.R62C NM_152399.2 NP_689612.2 Q4W5P6 TM155_HUMAN transmembrane protein 155 62 extracellular region breast(1)|lung(5) 6 CCCTGCAAGCGAACCAAAAAC 0.378000 20 42 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031122 79031122 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:79031122C>T ENST00000446378.2 + 2 6565 c.6534C>T c.(6532-6534)ttC>ttT p.F2178F NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2178 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTTCATCTTTCAAATCGTGGA 0.453000 44 4 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435897 158435897 + Silent SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:158435897C>A ENST00000289451.2 + 1 626 c.546C>A c.(544-546)tcC>tcA p.S182S NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 182 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) GTGACATCTCCCCTGTCCTTA 0.512000 89 217 2.18974e-44 2.24326e-44 1 1 0 PRTG 283659 broad.mit.edu 37 15 55912454 55912454 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:55912454C>T ENST00000389286.4 - 20 3256 c.3209G>A c.(3208-3210)aGa>aAa p.R1070K NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 1070 multicellular organismal development integral to membrane p.R1070K(1) breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGGAGTAAATCTTCTTTGAGG 0.488000 48 51 0 0 1 0 0 NEDD4L 23327 broad.mit.edu 37 18 56008980 56008980 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:56008980G>A ENST00000456986.1 + 15 1565 c.965G>A c.(964-966)cGg>cAg p.R322Q NEDD4L_ENST00000356462.6_Missense_Mutation_p.R379Q|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R302Q|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R443Q|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R302Q|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R435Q|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R302Q|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R415Q|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R322Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R423Q NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 443 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 CAGATCCGCCGGCCTCGTAGC 0.522000 18 17 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26534849 26534849 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:26534849G>A ENST00000333478.6 - 8 1732 c.1150C>T c.(1150-1152)Ctc>Ttc p.L384F GPR113_ENST00000421160.2_Missense_Mutation_p.L514F|GPR113_ENST00000541401.1_Missense_Mutation_p.L186F|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.L583F NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 583 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.L384F(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCAGCAGGAGAGTCGAGCCT 0.612000 42 54 0 0 1 0 0 PLP2 5355 broad.mit.edu 37 X 49028420 49028420 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:49028420G>A ENST00000376327.5 + 1 148 c.73G>A c.(73-75)Gga>Aga p.G25R PLP2_ENST00000376322.3_Missense_Mutation_p.G25R NM_002668.2 NP_002659.1 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic epithelium-enriched) 25 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3) 13 CACTCGAAAGGGAATCCTCCT 0.647000 20 3 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738729 138738729 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:138738729G>A ENST00000329447.5 - 1 1039 c.775C>T c.(775-777)Cgg>Tgg p.R259W MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 259 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGCGTCTCCGGGCCTTGCAC 0.662000 7 54 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139737659 139737659 + Missense_Mutation SNP G G A rs76179240 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:139737659G>A ENST00000303045.6 - 24 2610 c.2164C>T c.(2164-2166)Cca>Tca p.P722S COL22A1_ENST00000435777.1_Missense_Mutation_p.P722S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 722 Collagen-like 5.|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) GGGGGGCCTGGGACACCAGGG 0.582000 HNSCC(7;0.00092) 66 95 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420614 11420614 + RNA SNP C C T rs71057717 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:11420614C>T ENST00000381842.3 - 0 606 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding p.G190E(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) CTGGTTTCCTCCTTGTGGGGG 0.642000 100 293 0 0 1 0 0 TRIM16L 147166 broad.mit.edu 37 17 18630843 18630843 + Translation_Start_Site SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:18630843G>A ENST00000449552.2 + 0 1457 TRIM16L_ENST00000414850.2_De_novo_Start_InFrame|TRIM16L_ENST00000571708.1_De_novo_Start_InFrame|TRIM16L_ENST00000395902.3_Silent_p.S45S|TRIM16L_ENST00000395671.4_De_novo_Start_InFrame|TRIM16L_ENST00000395672.2_De_novo_Start_InFrame|TRIM16L_ENST00000572555.1_De_novo_Start_InFrame Q309B1 TR16L_HUMAN tripartite motif containing 16-like cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 GCCAGGTGTCGGTGTCAGAGG 0.512000 9 59 0 0 1 0 0 ABCA11P 79963 broad.mit.edu 37 4 419761 419761 + RNA SNP A A G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:419761A>G ENST00000451020.2 - 0 1277 NR_002451.2 TCCACAGGTAACTTACATGCC 0.468000 9 27 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75887458 75887458 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:75887458C>T ENST00000322507.8 - 12 2667 c.2358G>A c.(2356-2358)acG>acA p.T786T COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T786T|COL12A1_ENST00000483888.2_Silent_p.T786T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 786 Fibronectin type-III 4. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTTCATATTTCGTGTCTGGAA 0.423000 185 45 0 0 1 0 0 SETMAR 6419 broad.mit.edu 37 3 4354817 4354817 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:4354817G>A ENST00000358065.4 + 2 459 c.392G>A c.(391-393)aGa>aAa p.R131K SETMAR_ENST00000430981.1_Missense_Mutation_p.R131K|SETMAR_ENST00000425863.1_Missense_Mutation_p.R131K|SUMF1_ENST00000534863.1_Intron NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 118 Histone-lysine N-methyltransferase.|SET. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) TGCAGAAACAGAGTGGTCCAG 0.448000 Chromatin Structure 11 46 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143713832 143713832 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:143713832C>T ENST00000264170.4 + 6 754 c.496C>T c.(496-498)Cct>Tct p.P166S KYNU_ENST00000375773.2_Missense_Mutation_p.P166S|KYNU_ENST00000409512.1_Missense_Mutation_p.P166S NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 166 Pyridoxal phosphate binding. 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 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) CAAAGCCTTCCCTTCTGATCA 0.338000 13 62 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49724837 49724837 + Missense_Mutation SNP G G A rs41291712 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:49724837G>A ENST00000449682.2 - 4 791 c.430C>T c.(430-432)Ccc>Tcc p.P144S MST1_ENST00000545762.1_Intron|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.P69S NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 130 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCCTGGCAGGGCAGGCCACCC 0.587000 4 124 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75269378 75269378 + Splice_Site SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:75269378C>T ENST00000325680.7 + 6 4644 c.4521_splice c.e6+1 p.P1507_splice YLPM1_ENST00000238571.3_Splice_Site_p.P1312_splice|YLPM1_ENST00000552421.1_Splice_Site_p.P801_splice NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1312 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GGAATGTATCCGGTATGGGAG 0.373000 4 41 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529302 40529302 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:40529302G>A ENST00000447116.2 + 6 1728 c.1421G>A c.(1420-1422)gGg>gAg p.G474E ZNF619_ENST00000456778.1_Missense_Mutation_p.G390E|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.G425E|ZNF619_ENST00000314686.5_Missense_Mutation_p.G418E|ZNF619_ENST00000432264.2_Missense_Mutation_p.G434E|ZNF619_ENST00000521353.1_Missense_Mutation_p.G474E|ZNF619_ENST00000429348.2_Missense_Mutation_p.G434E NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 474 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CAGGAATGTGGGAAGACATTC 0.458000 34 84 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116747781 116747781 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:116747781C>T ENST00000331677.3 + 4 905 c.461C>T c.(460-462)tCc>tTc p.S154F DSE_ENST00000452085.3_Missense_Mutation_p.S154F|DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.S154F|DSE_ENST00000537543.1_Missense_Mutation_p.S173F Q9UL01 DSE_HUMAN dermatan sulfate epimerase 154 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CTTGCTCACTCCCTGGTTGGT 0.453000 24 41 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22029902 22029902 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:22029902C>T ENST00000284202.4 + 10 1020 c.879C>T c.(877-879)aaC>aaT p.N293N NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 293 endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) TGGAAAAGAACTACACAAATT 0.388000 26 85 0 0 1 0 0 NARF 26502 broad.mit.edu 37 17 80430571 80430571 + Missense_Mutation SNP C C G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:80430571C>G ENST00000390006.4 + 5 814 c.340C>G c.(340-342)Cct>Gct p.P114A NARF_ENST00000345415.7_Missense_Mutation_p.P125A|NARF_ENST00000457415.3_Missense_Mutation_p.P173A|NARF_ENST00000309794.10_Missense_Mutation_p.P173A|NARF_ENST00000412079.2_Intron|NARF_ENST00000581743.1_3'UTR NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 173 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CTCTGCCTGTCCTGGTGAGCC 0.562000 30 52 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515463 195515463 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:195515463G>A ENST00000463781.3 - 2 3447 c.2988C>T c.(2986-2988)acC>acT p.T996T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T996T|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1001 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T996T(1) 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) AGGAAGCATCGGTGACATGAA 0.582000 3 16 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 313842 313842 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:313842G>A ENST00000428720.1 - 4 980 c.237C>T c.(235-237)ttC>ttT p.F79F RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.F79F|SLC6A12_ENST00000397296.2_Silent_p.F79F|SLC6A12_ENST00000359674.4_Silent_p.F79F|SLC6A12_ENST00000424061.2_Silent_p.F79F NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 79 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) AGAAGAAGATGAAGTAGGGGA 0.592000 29 25 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183388985 183388985 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:183388985C>T ENST00000454652.1 + 7 1774 c.1388C>T c.(1387-1389)cCt>cTt p.P463L KLHL24_ENST00000242810.6_Missense_Mutation_p.P463L|KLHL24_ENST00000476808.1_Missense_Mutation_p.P463L Q6TFL4 KLH24_HUMAN kelch-like family member 24 463 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) GGTGGAGGACCTGATGATAAT 0.403000 31 154 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 10051647 10051647 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:10051647T>C ENST00000263663.5 + 11 1329 c.1141T>C c.(1141-1143)Tct>Cct p.S381P TAF1B_ENST00000396242.3_Missense_Mutation_p.S126P NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 381 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CAGGTCTTTGTCTAATCTTGC 0.264000 3 45 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49434220 49434220 + Nonsense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:49434220G>A ENST00000301067.7 - 31 7332 c.7333C>T c.(7333-7335)Cag>Tag p.Q2445* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCAGGGGACTGGAAGCGAGGG 0.627000 21 32 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 732594 732594 + Silent SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:732594T>C ENST00000382303.1 + 10 3874 c.3222T>C c.(3220-3222)ccT>ccC p.P1074P KANK1_ENST00000382293.3_Silent_p.P916P|KANK1_ENST00000382297.2_Silent_p.P1074P|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1074 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) AATGTGAACCTGAGAAGGTGG 0.483000 38 46 0 0 1 0 0 GLTPD1 80772 broad.mit.edu 37 1 1263011 1263011 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:1263011C>T ENST00000343938.4 + 3 924 c.513C>T c.(511-513)ttC>ttT p.F171F GLTPD1_ENST00000464957.1_3'UTR NM_001029885.1 NP_001025056.1 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 171 cytoplasm glycolipid binding|glycolipid transporter activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCGAGGTCTTCCTGGAGGCCA 0.687000 22 51 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187549725 187549725 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:187549725G>A ENST00000441802.2 - 8 4725 c.4516C>T c.(4516-4518)Cgt>Tgt p.R1506C NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1506 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGATCAAGACGAAATTTCTTG 0.463000 HNSCC(5;0.00058) 40 27 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17443679 17443679 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:17443679G>A ENST00000458468.1 + 0 273 NR_027790.1 GGCCATGCTCGAAGCCAGCTC 0.483000 13 24 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50102987 50102987 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:50102987C>T ENST00000418929.2 + 5 4149 c.4137C>T c.(4135-4137)tcC>tcT p.S1379S NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 558 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CGCTGCCCTCCTTCTCCTCGG 0.632000 44 81 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54793713 54793713 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:54793713G>A ENST00000293379.4 - 26 2923 c.2662C>T c.(2662-2664)Ctg>Ttg p.L888L RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 888 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TGGTGGTGCAGGGAACCCTCG 0.537000 OREG0021897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 68 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2111908 2111908 + Missense_Mutation SNP G G A rs137854007 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:2111908G>A ENST00000219476.3 + 12 1786 c.1156G>A c.(1156-1158)Gac>Aac p.D386N TSC2_ENST00000350773.4_Missense_Mutation_p.D386N|TSC2_ENST00000439673.2_Missense_Mutation_p.D349N|TSC2_ENST00000382538.6_Missense_Mutation_p.D337N|TSC2_ENST00000353929.4_Missense_Mutation_p.D386N|TSC2_ENST00000568454.1_Missense_Mutation_p.D397N|TSC2_ENST00000401874.2_Missense_Mutation_p.D386N NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 386 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CATCGTCCATGACCTGTTGAC 0.587000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 50 31 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9225703 9225703 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:9225703G>A ENST00000293614.1 - 1 736 c.737C>T c.(736-738)tCt>tTt p.S246F OR7G1_ENST00000541538.1_Missense_Mutation_p.S246F Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 246 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 GGAAAAAACAGAGAGGTGACA 0.428000 19 57 0 0 1 0 0 RTN4IP1 84816 broad.mit.edu 37 6 107076868 107076868 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:107076868C>T ENST00000539449.1 - 1 505 c.29G>A c.(28-30)aGa>aAa p.R10K RTN4IP1_ENST00000369063.3_Missense_Mutation_p.R10K Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 10 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) TGCATTTCTTCTAAGTACACA 0.423000 38 7 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134265 119134265 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:119134265G>A ENST00000264245.4 + 12 4021 c.3489G>A c.(3487-3489)caG>caA p.Q1163Q NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGGACCCCCAGGACCTGGACA 0.547000 15 70 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179658157 179658157 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:179658157C>T ENST00000589042.1 - 9 1734 c.1510G>A c.(1510-1512)Gag>Aag p.E504K TTN_ENST00000342992.6_Missense_Mutation_p.E504K|TTN_ENST00000460472.2_Missense_Mutation_p.E504K|TTN_ENST00000591111.1_Missense_Mutation_p.E504K|TTN_ENST00000359218.5_Missense_Mutation_p.E504K|TTN_ENST00000342175.6_Missense_Mutation_p.E504K|TTN_ENST00000360870.5_Missense_Mutation_p.E504K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 504 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) TGCATCTGCTCTTGCTTTGTG 0.408000 72 122 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8421297 8421297 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:8421297C>T ENST00000337907.3 - 19 2904 c.2270G>A c.(2269-2271)gGg>gAg p.G757E RERE_ENST00000476556.1_Missense_Mutation_p.G203E|RERE_ENST00000400908.2_Missense_Mutation_p.G757E|RERE_ENST00000377464.1_Missense_Mutation_p.G489E|RERE_ENST00000400907.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 757 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTGAGGGGTCCCTGGAGGAGC 0.711000 9 40 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101847707 101847707 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:101847707C>T ENST00000360264.3 + 19 2997 c.2977C>T c.(2977-2979)Ctg>Ttg p.L993L CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Silent_p.L982L|CUX1_ENST00000549414.2_Silent_p.L960L|CUX1_ENST00000546411.2_Silent_p.L880L|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.L824L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.L926L|CUX1_ENST00000393824.3_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 982 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CAGCGACATGCTGTCCCGACC 0.612000 4 162 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179509338 179509338 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:179509338G>A ENST00000589042.1 - 218 40638 c.40414C>T c.(40414-40416)Cca>Tca p.P13472S TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10904S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11831S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000418062.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11831 Ig-like 90. 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) TTCTTCTTTGGAATAGCTTTA 0.318000 5 13 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37427573 37427573 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr13:37427573G>A ENST00000379826.4 - 6 1585 c.1243C>T c.(1243-1245)Cgg>Tgg p.R415W SMAD9_ENST00000399275.2_Missense_Mutation_p.R415W|SMAD9_ENST00000350148.5_Missense_Mutation_p.R378W NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 415 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) AAACTCATCCGGATAGTACAC 0.453000 30 60 0 0 1 0 0 CASD1 64921 broad.mit.edu 37 7 94156486 94156486 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:94156486C>T ENST00000297273.4 + 4 651 c.364C>T c.(364-366)Cct>Tct p.P122S NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 122 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TGAAAACATTCCTTTTGAAGA 0.279000 39 145 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149557668 149557668 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:149557668C>T ENST00000223210.4 + 7 1664 c.1419C>T c.(1417-1419)ttC>ttT p.F473F NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TTGGGCAGTTCCCATGGTTAG 0.478000 34 179 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1516076 1516076 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:1516076G>A ENST00000389470.4 - 39 5778 c.5779C>T c.(5779-5781)Ctg>Ttg p.L1927L INTS1_ENST00000404767.3_Silent_p.L1723L Q8N201 INT1_HUMAN integrator complex subunit 1 1723 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CGCAGCACCAGCTCCTCCCGC 0.721000 4 17 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247151442 247151442 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:247151442C>T ENST00000339986.7 - 4 522 c.375G>A c.(373-375)agG>agA p.R125R ZNF695_ENST00000487338.2_Silent_p.R125R|ZNF695_ENST00000498046.2_5'UTR NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 125 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) CCCAGTCATTCCTTAAGCGTA 0.408000 205 176 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40483543 40483543 + Silent SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:40483543C>A ENST00000264657.5 - 11 1368 c.1056G>T c.(1054-1056)ctG>ctT p.L352L STAT3_ENST00000389272.3_Silent_p.L254L|STAT3_ENST00000588969.1_Silent_p.L352L|STAT3_ENST00000585517.1_Silent_p.L352L|STAT3_ENST00000404395.3_Silent_p.L352L NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 352 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GGAATTTGACCAGCAACCTAT 0.303000 Hyperimmunoglobulin E Recurrent Infection Syndrome 9 42 0.00621372 0.00623852 1 1 0 PPIAL4G 644591 broad.mit.edu 37 1 143767520 143767520 + Missense_Mutation SNP G G A rs66906173 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:143767520G>A ENST00000419275.1 - 1 361 c.329C>T c.(328-330)tCc>tTc p.S110F NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 110 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 GAAAAACTGGGAACCATTTGT 0.473000 14 405 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134151946 134151946 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:134151946C>T ENST00000389887.5 + 5 2955 c.459C>T c.(457-459)atC>atT p.I153I GLB1L3_ENST00000431683.2_Silent_p.I153I Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 153 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CCGCAGAGATCGGGCTGTGGG 0.657000 12 4 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103964482 103964482 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:103964482G>A ENST00000394785.3 - 9 1748 c.1117C>T c.(1117-1119)Ctt>Ttt p.L373F SLC9B2_ENST00000339611.4_Missense_Mutation_p.L373F|SLC9B2_ENST00000503230.1_Missense_Mutation_p.L316F|SLC9B2_ENST00000362026.3_Missense_Mutation_p.L373F|SLC9B2_ENST00000503103.1_Missense_Mutation_p.L316F NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 373 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity ATGCCTGCAAGGAAAGCCATG 0.443000 11 34 0 0 1 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409727 22409727 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:22409727G>A ENST00000390441.2 + 0 273 CACGAAGGCTGATGACAAGGG 0.473000 31 62 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46832646 46832646 + Nonsense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:46832646G>A ENST00000529230.1 - 5 587 c.541C>T c.(541-543)Cga>Tga p.R181* CKAP5_ENST00000415402.1_Nonsense_Mutation_p.R181*|CKAP5_ENST00000354558.3_Nonsense_Mutation_p.R181*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.R181* Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 181 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GCTTCATCTCGAACAGCCTTC 0.388000 41 38 0 0 1 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672611 113672611 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:113672611C>T ENST00000330212.3 + 3 525 c.226C>T c.(226-228)Cgc>Tgc p.R76C ZDHHC23_ENST00000498275.1_Missense_Mutation_p.R70C NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 76 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 AATTTCTGATCGCCTCCGAAT 0.453000 63 98 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111156716 111156716 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:111156716C>T ENST00000280325.4 + 4 795 c.648C>T c.(646-648)tcC>tcT p.S216S NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 216 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) ATGACCCTTCCCCTTGGGTGA 0.537000 60 4 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5941718 5941718 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:5941718G>A ENST00000356134.5 - 6 747 c.676C>T c.(676-678)Ctg>Ttg p.L226L ANO2_ENST00000327087.8_Silent_p.L225L|ANO2_ENST00000546188.1_Silent_p.L226L NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 230 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 AGCTTCTGCAGAGCCGCGCTG 0.522000 48 44 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 369855 369855 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:369855C>T ENST00000256509.2 + 5 845 c.203C>T c.(202-204)tCg>tTg p.S68L CHL1_ENST00000397491.2_Missense_Mutation_p.S68L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 68 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.S68L(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTTAGATTTTCGTGGACTAAG 0.338000 61 71 0 0 1 0 0 DIS3L2 129563 broad.mit.edu 37 2 233128061 233128061 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:233128061G>A ENST00000325385.7 + 13 1846 c.1570G>A c.(1570-1572)Gag>Aag p.E524K DIS3L2_ENST00000409307.1_Missense_Mutation_p.E524K|DIS3L2_ENST00000273009.6_Missense_Mutation_p.E524K NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 524 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TAGCAGCGAGGAGGTACACCA 0.542000 45 58 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1414070 1414070 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:1414070C>T ENST00000446702.2 + 13 2207 c.1580C>T c.(1579-1581)cCc>cTc p.P527L CNTN6_ENST00000539053.1_Missense_Mutation_p.P455L|CNTN6_ENST00000350110.2_Missense_Mutation_p.P527L Q9UQ52 CNTN6_HUMAN contactin 6 527 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TCCCATGACCCCTCCATTGAA 0.418000 55 54 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47098764 47098764 + Missense_Mutation SNP C C G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:47098764C>G ENST00000377107.2 + 3 655 c.301C>G c.(301-303)Cgc>Ggc p.R101G USP11_ENST00000218348.3_Missense_Mutation_p.R144G P51784 UBP11_HUMAN ubiquitin specific peptidase 11 144 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GATAAACTGGCGCCTCAAGGA 0.572000 17 0 0 0 1 0 0 PFKFB3 5209 broad.mit.edu 37 10 6266120 6266120 + Missense_Mutation SNP G G T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:6266120G>T ENST00000379775.4 + 13 1615 c.1285G>T c.(1285-1287)Gtg>Ttg p.V429L PFKFB3_ENST00000379782.3_Missense_Mutation_p.V429L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.V429L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.V409L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.V443L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.V429L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.V429L|PFKFB3_ENST00000536985.1_Intron NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 429 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 AGGCTGCCGTGTGGAATCCAT 0.607000 22 37 5.45024e-15 5.52716e-15 1 1 0 PEAR1 375033 broad.mit.edu 37 1 156884457 156884457 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:156884457C>T ENST00000338302.3 + 24 3206 c.2981C>T c.(2980-2982)tCc>tTc p.S994F PEAR1_ENST00000292357.7_Missense_Mutation_p.S994F Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 994 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCTGTGGGCTCCCAGCCCCCT 0.612000 106 87 0 0 1 0 0 RNASE10 338879 broad.mit.edu 37 14 20979121 20979121 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:20979121G>A ENST00000430083.1 + 2 979 c.575G>A c.(574-576)gGa>gAa p.G192E RNASE10_ENST00000328444.5_Missense_Mutation_p.G164E Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 164 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.G164E(1) endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 12 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CTCAAGGGGGGAAAATGTCAC 0.458000 13 38 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10953845 10953845 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:10953845G>A ENST00000254488.2 + 7 1028 c.962G>A c.(961-963)gGa>gAa p.G321E NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 321 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) ACCGCTCTGGGAAGTTATAAC 0.507000 79 90 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 37002746 37002746 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:37002746G>A ENST00000358127.4 - 5 577 c.503C>T c.(502-504)tCc>tTc p.S168F PAX5_ENST00000377853.2_Missense_Mutation_p.S168F|PAX5_ENST00000446742.1_Missense_Mutation_p.S102F|PAX5_ENST00000523241.1_Missense_Mutation_p.S168F|PAX5_ENST00000377852.2_Missense_Mutation_p.S168F|PAX5_ENST00000377847.2_Missense_Mutation_p.S168F|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.S60F|PAX5_ENST00000523145.1_Missense_Mutation_p.S60F|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520154.1_Missense_Mutation_p.S168F|PAX5_ENST00000414447.1_Intron NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 168 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(40) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GCTCACCGAGGACACCTGCGT 0.677000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 5 8 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120480126 120480126 + Missense_Mutation SNP A A G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:120480126A>G ENST00000222747.3 - 3 711 c.104T>C c.(103-105)aTg>aCg p.M35T TSPAN12_ENST00000415871.1_Missense_Mutation_p.M35T NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 35 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) GTAGTCCCTCATCCAAGCAGA 0.353000 64 52 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58384787 58384787 + Missense_Mutation SNP T T A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:58384787T>A ENST00000435989.2 - 3 2205 c.1971A>T c.(1969-1971)gaA>gaT p.E657D ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 657 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 TAAAAGGTCTTTCTGTAGTGT 0.423000 15 20 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56549392 56549392 + Splice_Site SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:56549392C>T ENST00000390649.3 + 10 2617 c.2615_splice c.e10-1 p.L873_splice NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 873 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCTCTGCAGGCTGGATTGCTG 0.557000 33 14 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104173721 104173721 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:104173721G>A ENST00000020673.5 - 5 1884 c.1358C>T c.(1357-1359)cCc>cTc p.P453L PSD_ENST00000406432.1_Missense_Mutation_p.P453L NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 453 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TGGTGGGTCGGGCCGGGGTGC 0.652000 15 23 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10085442 10085442 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:10085442C>T ENST00000380861.4 + 11 1734 c.1343C>T c.(1342-1344)tCc>tTc p.S448F WWC3_ENST00000454666.1_Missense_Mutation_p.S448F NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 448 Ser-rich. NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 ACGCCCCAGTCCCTGGCATCG 0.687000 43 9 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114903697 114903697 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:114903697C>T ENST00000545257.1 + 7 1208 c.701C>T c.(700-702)cCg>cTg p.P234L TCF7L2_ENST00000349937.2_Missense_Mutation_p.P234L|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P211L|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P211L|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P234L|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P234L|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P234L|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P258L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369395.1_Missense_Mutation_p.P259L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P234L|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P234L Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 234 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCACGGCCTCCGCACCCTCCA 0.527000 T VTI1A colorectal 16 27 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57564319 57564319 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:57564319G>A ENST00000524630.1 + 6 1324 c.811G>A c.(811-813)Gat>Aat p.D271N CTNND1_ENST00000534579.1_Missense_Mutation_p.D217N|CTNND1_ENST00000528621.1_Missense_Mutation_p.D217N|CTNND1_ENST00000532844.1_Missense_Mutation_p.D217N|CTNND1_ENST00000529919.1_Missense_Mutation_p.D271N|CTNND1_ENST00000532245.1_Missense_Mutation_p.D170N|CTNND1_ENST00000526357.1_Missense_Mutation_p.D217N|CTNND1_ENST00000361332.4_Missense_Mutation_p.D271N|CTNND1_ENST00000428599.2_Missense_Mutation_p.D271N|CTNND1_ENST00000415361.2_Missense_Mutation_p.D170N|CTNND1_ENST00000528232.1_Missense_Mutation_p.D170N|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.D271N|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529986.1_Missense_Mutation_p.D170N|CTNND1_ENST00000532649.1_Missense_Mutation_p.D217N|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532463.1_Missense_Mutation_p.D170N|CTNND1_ENST00000361796.4_Missense_Mutation_p.D271N|CTNND1_ENST00000361391.6_Missense_Mutation_p.D271N|CTNND1_ENST00000530748.1_Missense_Mutation_p.D217N|CTNND1_ENST00000529873.1_Missense_Mutation_p.D217N|CTNND1_ENST00000530094.1_Missense_Mutation_p.D170N|CTNND1_ENST00000426142.2_Missense_Mutation_p.D170N|CTNND1_ENST00000399050.4_Missense_Mutation_p.D271N|CTNND1_ENST00000399039.4_Missense_Mutation_p.D271N|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.D271N|CTNND1_ENST00000532787.1_Missense_Mutation_p.D170N|CTNND1_ENST00000529526.1_Missense_Mutation_p.D217N|CTNND1_ENST00000526938.1_Missense_Mutation_p.D271N O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 271 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) GAGCAGCGTGGATCTGCATCG 0.547000 62 244 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93118223 93118223 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:93118223C>T ENST00000216487.7 + 6 988 c.829C>T c.(829-831)Cca>Tca p.P277S RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 277 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CAGGTGGGCCCCACGccgccc 0.726000 36 51 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846141 18846141 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr22:18846141G>A ENST00000412938.1 + 0 3499 AGGGCACCTTGGACCTCTCTC 0.622000 6 31 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110431368 110431368 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:110431368G>A ENST00000378402.5 + 22 2507 c.2403G>A c.(2401-2403)acG>acA p.T801T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 801 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCGTAAGAACGAAATACACTG 0.373000 HNSCC(38;0.096) 32 41 0 0 1 0 0 ASAP3 55616 broad.mit.edu 37 1 23782474 23782474 + Missense_Mutation SNP A A G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:23782474A>G ENST00000336689.3 - 3 292 c.248T>C c.(247-249)tTa>tCa p.L83S ASAP3_ENST00000437606.2_Missense_Mutation_p.L83S NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 83 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 GCTGTTGCCTAAGGATTCCAC 0.587000 89 130 0 0 1 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593386 1593386 + RNA SNP A A C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:1593386A>C ENST00000436493.2 - 0 239 CTGGCCATTCACGTGCCTCAG 0.597000 3 36 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230315 140230315 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:140230315G>A ENST00000378122.3 + 1 2959 c.2235G>A c.(2233-2235)gtG>gtA p.V745V PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.V745V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_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) CTAGCGCGGTGGGGAGTTGGT 0.647000 65 19 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328397 61328397 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:61328397C>T ENST00000283752.5 - 2 197 c.54G>A c.(52-54)caG>caA p.Q18Q SERPINB3_ENST00000332821.8_Silent_p.Q18Q|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 18 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 ATTTTCTGAACTGTTGGAACA 0.438000 100 156 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75269376 75269376 + Nonsense_Mutation SNP T T A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:75269376T>A ENST00000325680.7 + 6 4642 c.4518T>A c.(4516-4518)taT>taA p.Y1506* YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Y1311*|YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Y800* NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1311 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CTGGAATGTATCCGGTATGGG 0.363000 4 40 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102882 61102882 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr13:61102882G>A ENST00000196169.3 + 11 2032 c.1244G>A c.(1243-1245)gGa>gAa p.G415E TDRD3_ENST00000535286.1_Missense_Mutation_p.G508E|TDRD3_ENST00000377881.2_Missense_Mutation_p.G415E|TDRD3_ENST00000377894.2_Missense_Mutation_p.G415E NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 415 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AGCAGATCAGGAAAAGGTCCC 0.358000 29 117 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732749 152732749 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:152732749C>T ENST00000368773.1 + 2 743 c.685C>T c.(685-687)Ccc>Tcc p.P229S KPRP_ENST00000606109.1_Missense_Mutation_p.P229S NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 229 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TTCATTTAGTCCCTGTGTGCC 0.592000 105 88 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90328647 90328647 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:90328647G>A ENST00000300060.6 - 21 3150 c.2837C>T c.(2836-2838)gCc>gTc p.A946V NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 946 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CTTGATGTTGGCTTTCGTCTT 0.562000 50 168 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403704 47403704 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:47403704C>T ENST00000310638.4 - 2 332 c.301G>A c.(301-303)Gac>Aac p.D101N CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D101N|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D101N NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 101 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TAGTCAGGGTCATAGAGCTGG 0.522000 92 74 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46331157 46331157 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:46331157G>A ENST00000245934.7 - 15 2249 c.2005C>T c.(2005-2007)Ctg>Ttg p.L669L NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 669 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGCGCCTCCAGCACAACCTTG 0.642000 57 126 0 0 1 0 0 NOBOX 135935 broad.mit.edu 37 7 144097351 144097351 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:144097351T>C ENST00000467773.1 - 5 898 c.899A>G c.(898-900)gAt>gGt p.D300G NOBOX_ENST00000483238.1_Missense_Mutation_p.D300G|NOBOX_ENST00000223140.5_Missense_Mutation_p.D215G NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 300 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) TCGGCGTTTATCACTGTCAGG 0.562000 33 73 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059148 248059148 + Missense_Mutation SNP G G A rs111963382 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:248059148G>A ENST00000537741.1 + 3 517 c.260G>A c.(259-261)gGa>gAa p.G87E OR2W3_ENST00000360358.3_Missense_Mutation_p.G87E Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 87 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) AACCTTAATGGATGTGACAAG 0.562000 76 128 0 0 1 0 0 TMEM128 85013 broad.mit.edu 37 4 4239621 4239621 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:4239621G>A ENST00000254742.2 - 4 954 c.368C>T c.(367-369)cCa>cTa p.P123L TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000382753.4_Missense_Mutation_p.P147L|TMEM128_ENST00000540397.1_Missense_Mutation_p.P147L NM_032927.2 NP_116316.1 Q5BJH2 TM128_HUMAN transmembrane protein 128 147 integral to membrane endometrium(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) CAACAACAATGGAGTGAAAAA 0.358000 17 52 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149509490 149509490 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:149509490G>A ENST00000261799.4 - 10 1878 c.1409C>T c.(1408-1410)tCc>tTc p.S470F NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 470 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCCTCTTCGGAACTGTTCCC 0.627000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 49 0 0 1 0 0 H2BFM 286436 broad.mit.edu 37 X 103294957 103294957 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:103294957G>A ENST00000243297.5 + 3 723 c.723G>A c.(721-723)acG>acA p.T241T H2BFM_ENST00000355016.3_Silent_p.T138T H2B histone family, member M endometrium(1)|lung(1)|ovary(1) 3 CCCAGGGCACGAATGCCGCCC 0.627000 4 1 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110445374 110445374 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:110445374C>T ENST00000378402.5 + 28 3373 c.3269C>T c.(3268-3270)tCt>tTt p.S1090F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1090 IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATAGTGGGTTCTGGATTTTCT 0.338000 HNSCC(38;0.096) 200 169 0 0 1 0 0 TTLL10 254173 broad.mit.edu 37 1 1118377 1118377 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:1118377C>T ENST00000379290.1 + 11 1211 c.1038C>T c.(1036-1038)ccC>ccT p.P346P TTLL10_ENST00000379289.1_Silent_p.P346P|TTLL10_ENST00000379288.3_Silent_p.P273P Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 346 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGACGACCCCATCCACCACA 0.701000 10 22 0 0 1 0 0 KLC1 3831 broad.mit.edu 37 14 104124042 104124042 + Missense_Mutation SNP C C G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:104124042C>G ENST00000389744.4 + 3 690 c.421C>G c.(421-423)Ctg>Gtg p.L141V KLC1_ENST00000554280.1_Missense_Mutation_p.L141V|KLC1_ENST00000557575.1_Missense_Mutation_p.L141V|KLC1_ENST00000380038.3_Missense_Mutation_p.L141V|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313V|KLC1_ENST00000557450.1_Missense_Mutation_p.L141V|KLC1_ENST00000452929.2_Missense_Mutation_p.L141V|KLC1_ENST00000555836.1_Missense_Mutation_p.L141V|KLC1_ENST00000553286.1_Missense_Mutation_p.L141V|KLC1_ENST00000347839.6_Missense_Mutation_p.L141V|KLC1_ENST00000445352.4_Missense_Mutation_p.L141V|KLC1_ENST00000348520.6_Missense_Mutation_p.L141V|KLC1_ENST00000246489.7_Missense_Mutation_p.L141V|KLC1_ENST00000334553.6_Missense_Mutation_p.L141V Q07866 KLC1_HUMAN kinesin light chain 1 141 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TGTGGCTCAACTGGAGGAGGA 0.502000 32 21 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26299688 26299688 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr22:26299688G>A ENST00000335473.7 + 31 5288 c.5038G>A c.(5038-5040)Gaa>Aaa p.E1680K MYO18B_ENST00000536101.1_Missense_Mutation_p.E1680K|MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000407587.2_Missense_Mutation_p.E1681K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1680 Gln-rich.|Tail. 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 CTCTCTGGGGGAAAATTGCGT 0.542000 4 10 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72425248 72425248 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:72425248G>A ENST00000359373.5 - 4 1479 c.628C>T c.(628-630)Ccc>Tcc p.P210S ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.P210S|ARAP1_ENST00000393609.3_Missense_Mutation_p.P210S|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000429686.1_5'UTR Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 210 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GGGGGGCAGGGAGGTGGAGAG 0.652000 11 5 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131186710 131186710 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:131186710G>A ENST00000337057.3 - 17 2976 c.2795C>T c.(2794-2796)tCc>tTc p.S932F EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S633F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S738F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000531410.1_Missense_Mutation_p.S53F|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S932F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S779F|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S310F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S862F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S674F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S674F NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 932 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity p.S932F(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TGTTGACACGGACTCAGATGT 0.458000 27 38 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148614415 148614415 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:148614415C>T ENST00000296046.3 + 11 1227 c.1175C>T c.(1174-1176)tCc>tTc p.S392F RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 392 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTTCCAGAATCCCGGATAAAG 0.438000 23 97 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90605755 90605755 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:90605755G>A ENST00000369352.1 + 1 1568 c.1568G>A c.(1567-1569)gGg>gAg p.G523E NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 523 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCAGATGGAGGGGGAGATTAT 0.343000 9 16 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62845433 62845433 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:62845433C>T ENST00000512091.1 + 17 3501 c.2754C>T c.(2752-2754)atC>atT p.I918I LPHN3_ENST00000506720.1_Silent_p.I986I|LPHN3_ENST00000506700.1_Silent_p.I918I|LPHN3_ENST00000514157.1_Silent_p.I918I|LPHN3_ENST00000514996.1_Silent_p.I918I|LPHN3_ENST00000508946.1_Silent_p.I918I|LPHN3_ENST00000507164.1_Silent_p.I986I|LPHN3_ENST00000507625.1_Silent_p.I986I|LPHN3_ENST00000545650.1_Silent_p.I918I|LPHN3_ENST00000511324.1_Silent_p.I986I|LPHN3_ENST00000509896.1_Silent_p.I986I|LPHN3_ENST00000514591.1_Silent_p.I918I|LPHN3_ENST00000504896.1_Silent_p.I918I|LPHN3_ENST00000508693.1_Silent_p.I986I|LPHN3_ENST00000506746.1_Silent_p.I986I Q9HAR2 LPHN3_HUMAN latrophilin 3 905 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ACCTCTGCATCAGTCTCTTTG 0.458000 106 289 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40747130 40747130 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:40747130C>T ENST00000373198.3 - 22 3196 c.2961G>A c.(2959-2961)caG>caA p.Q987Q PTPRT_ENST00000373184.1_Silent_p.Q955Q|PTPRT_ENST00000373187.1_Silent_p.Q965Q|PTPRT_ENST00000356100.2_Silent_p.Q974Q|PTPRT_ENST00000373201.1_Silent_p.Q955Q|PTPRT_ENST00000373193.3_Silent_p.Q968Q|PTPRT_ENST00000373190.1_Silent_p.Q964Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 965 Tyrosine-protein phosphatase 1. 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) TTACAGTCTCCTGCATCGGAC 0.532000 27 68 0 0 1 0 0 NOLC1 9221 broad.mit.edu 37 10 103920812 103920812 + Missense_Mutation SNP A A C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:103920812A>C ENST00000405356.1 + 10 1968 c.1733A>C c.(1732-1734)gAa>gCa p.E578A NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.E569A|NOLC1_ENST00000605788.1_Missense_Mutation_p.E568A|NOLC1_ENST00000603742.1_Missense_Mutation_p.E287A Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 568 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GAGGAGGAAGAAGAAAAGAAA 0.517000 32 41 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960868 73960868 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:73960868G>A ENST00000373468.1 - 3 4175 c.3524C>T c.(3523-3525)tCa>tTa p.S1175L KIAA2022_ENST00000055682.5_Missense_Mutation_p.S1175L Q5QGS0 K2022_HUMAN KIAA2022 1175 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTCTTTCTTGATTTTGACAC 0.403000 32 4 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169673786 169673786 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:169673786C>T ENST00000236147.4 - 5 888 c.728G>A c.(727-729)gGa>gAa p.G243E SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 230 Sushi 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TAAGTTTGTTCCTTCAGAGCA 0.498000 5 3 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31088167 31088167 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:31088167G>A ENST00000394979.2 + 1 945 c.522G>A c.(520-522)ttG>ttA p.L174L ZNF646_ENST00000300850.5_Silent_p.L174L O15015 ZN646_HUMAN zinc finger protein 646 174 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 GAGAAGGCTTGGCAAGCCACC 0.582000 24 54 0 0 1 0 0 NUP210P1 255330 broad.mit.edu 37 3 126382223 126382223 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:126382223C>T ENST00000357061.3 + 0 190 NR_034158.1 TTTTCTCCATCAGCAACTAGA 0.587000 18 49 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787509 73787509 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:73787509G>A ENST00000342056.2 + 5 1215 c.817G>A c.(817-819)Gga>Aga p.G273R KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273R|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273R|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G273R|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273R NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 273 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTGGTACATAGGATTTTTGGT 0.353000 21 3 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564602 36564602 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:36564602G>A ENST00000397799.1 - 4 904 c.680C>T c.(679-681)cCc>cTc p.P227L COL8A2_ENST00000303143.4_Missense_Mutation_p.P227L|COL8A2_ENST00000481785.1_Missense_Mutation_p.P162L P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 227 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGGCCGGGGGGGCCGGGGGC 0.711000 7 42 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26483789 26483789 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:26483789C>T ENST00000295589.3 - 5 952 c.758G>A c.(757-759)aGg>aAg p.R253K NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 253 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GCTAGGTTTCCTTTCTGGGTG 0.582000 58 48 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61582839 61582839 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:61582839C>T ENST00000238508.3 + 2 154 c.95C>T c.(94-96)tCc>tTc p.S32F NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TTCTTTTCTTCCTGGAGCATC 0.458000 50 62 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55136211 55136211 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:55136211C>T ENST00000414150.2 + 6 1709 c.1431C>T c.(1429-1431)tcC>tcT p.S477S MROH7_ENST00000421030.2_Silent_p.S477S|MROH7_ENST00000395690.2_Silent_p.S477S|MROH7_ENST00000454855.2_5'UTR|MROH7_ENST00000545244.1_Silent_p.S45S|MROH7_ENST00000409996.1_Silent_p.S45S|MROH7_ENST00000339553.5_Silent_p.S477S maestro heat-like repeat family member 7 TCTCAAGCTCCGTCCGCAAGC 0.637000 19 28 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61533511 61533511 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:61533511C>T ENST00000278836.5 + 3 312 c.216C>T c.(214-216)gtC>gtT p.V72V MYRF_ENST00000265460.5_Silent_p.V63V NM_001127392.1 NP_001120864.1 myelin regulatory factor CCAGCGGGGTCCACCACCTGA 0.716000 6 22 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71234558 71234558 + Missense_Mutation SNP G G C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:71234558G>C ENST00000418814.2 + 15 2385 c.1771G>C c.(1771-1773)Gaa>Caa p.E591Q FAM135A_ENST00000505868.1_Missense_Mutation_p.E591Q|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000370479.3_Intron NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 591 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TCCAGATATTGAAAATGTTCA 0.388000 3 12 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176022 140176022 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:140176022C>T ENST00000526136.1 + 1 1473 c.1473C>T c.(1471-1473)tcC>tcT p.S491S PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.S491S|PCDHA2_ENST00000378132.1_Silent_p.S491S NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGGTGTCCTACTCGCTGG 0.657000 64 4 0 0 1 0 0 RPSAP52 204010 broad.mit.edu 37 12 66152243 66152243 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:66152243C>T ENST00000489520.2 - 0 700 NR_026825.2 GCAGAACTTCCCAGGCCAGCA 0.483000 12 4 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832829 61832829 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:61832829C>T ENST00000280772.1 - 37 8001 c.7810G>A c.(7810-7812)Gat>Aat p.D2604N ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2604 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 TGCAGTTCATCATTTAGCTTT 0.433000 34 56 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49604372 49604372 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:49604372G>A ENST00000371175.4 - 1 180 c.154C>T c.(154-156)Cct>Tct p.P52S RHAG_ENST00000229810.7_Missense_Mutation_p.P52S NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 52 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TACTCACGAGGATATAACTCA 0.368000 71 107 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45555638 45555638 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:45555638T>C ENST00000588982.1 - 4 2354 c.1853A>G c.(1852-1854)aAc>aGc p.N618S ZBTB7C_ENST00000586438.1_Missense_Mutation_p.N618S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.N618S|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.N618S|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.N618S A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 618 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGCCTAGTTGTTGGCTTCGGA 0.667000 5 9 0 0 1 0 0 SPP1 6696 broad.mit.edu 37 4 88902848 88902848 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:88902848C>T ENST00000237623.7 + 5 544 c.396C>T c.(394-396)ttC>ttT p.F132F SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Silent_p.F119F|SPP1_ENST00000395080.3_Silent_p.F146F NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 146 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CCGAAGTTTTCACTCCAGTTG 0.468000 42 71 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32133219 32133219 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:32133219C>T ENST00000373672.3 - 52 3830 c.3314G>A c.(3313-3315)gGg>gAg p.G1105E COL16A1_ENST00000271069.6_Missense_Mutation_p.G1105E NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1105 Triple-helical region 2 (COL2) with 2 imperfections. 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) GCCACGCTCCCCCTTGATGCC 0.622000 6 21 0 0 1 0 0 MIR381HG 378881 broad.mit.edu 37 14 101514271 101514271 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:101514271C>T ENST00000553692.1 + 0 28 MIR889_ENST00000401280.1_RNA AGTATGGTCTCTATATTTATG 0.403000 28 15 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32712940 32712940 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:32712940C>T ENST00000374940.3 + 2 189 c.87C>T c.(85-87)gaC>gaT p.D29D NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 29 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGTCAGCTGACCATGTTGCCT 0.473000 82 100 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18163916 18163916 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:18163916C>T ENST00000278816.2 + 9 2608 c.1958C>T c.(1957-1959)tCc>tTc p.S653F CSRP2BP_ENST00000435364.2_Missense_Mutation_p.S653F|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.S652F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S525F Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 653 N-acetyltransferase. histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 ACGATCAACTCCATGTGTCAG 0.498000 82 66 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17548304 17548304 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:17548304G>A ENST00000005226.7 - 7 574 c.575C>T c.(574-576)tCt>tTt p.S192F USH1C_ENST00000527720.1_Missense_Mutation_p.S161F|USH1C_ENST00000527020.1_Missense_Mutation_p.S192F|USH1C_ENST00000318024.4_Missense_Mutation_p.S192F NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 192 equilibrioception|G2/M transition of mitotic cell cycle|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 CCTTACCCCAGATTCCGACAC 0.567000 16 61 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3189726 3189726 + Missense_Mutation SNP T T A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:3189726T>A ENST00000251607.6 + 8 1295 c.1193T>A c.(1192-1194)aTt>aAt p.I398N TRNT1_ENST00000280591.6_Missense_Mutation_p.I378N NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 398 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) AAAGTGGGCATTTCTTCAGGA 0.418000 18 65 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366453 248366453 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:248366453C>T ENST00000456743.1 + 1 122 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 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;0.0245) CCTTCCTCTTCTTTCTGGTCC 0.512000 270 228 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542657 28542657 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:28542657C>T ENST00000452236.2 - 3 2442 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 609 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CCTGTGCATTCTTTTTCACAA 0.413000 36 39 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230316 140230316 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:140230316G>A ENST00000378122.3 + 1 2960 c.2236G>A c.(2236-2238)Ggg>Agg p.G746R PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G746R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_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) TAGCGCGGTGGGGAGTTGGTC 0.652000 62 19 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23588106 23588106 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:23588106C>T ENST00000206513.5 - 1 719 c.195G>A c.(193-195)gaG>gaA p.E65E NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 65 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) GGCCTCTGGCCTCAGGCGCTG 0.622000 49 51 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57088981 57088981 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:57088981G>A ENST00000436936.1 + 26 3859 c.3634G>A c.(3634-3636)Gag>Aag p.E1212K NLRC5_ENST00000308149.7_Missense_Mutation_p.E1212K|NLRC5_ENST00000262510.6_Missense_Mutation_p.E1212K|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1212K Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1212 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) CAGATCCAACGAGGAGGAGGA 0.602000 46 27 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138424313 138424313 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:138424313C>T ENST00000310018.2 - 15 1826 c.1544G>A c.(1543-1545)gGa>gAa p.G515E ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G515E|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G515E NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 515 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTATGGATTTCCAAAATACAC 0.398000 27 51 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30517983 30517983 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:30517983C>T ENST00000383096.3 - 23 2778 c.2596G>A c.(2596-2598)Gat>Aat p.D866N CCDC178_ENST00000403303.1_Missense_Mutation_p.D866N|CCDC178_ENST00000581852.1_Missense_Mutation_p.D71N|CCDC178_ENST00000300227.8_Missense_Mutation_p.D828N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D890N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D890N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000402325.1_Missense_Mutation_p.D816N|CCDC178_ENST00000579916.1_Missense_Mutation_p.D186N coiled-coil domain containing 178 GCTTAACCATCGTTTTCGCAT 0.368000 18 55 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120466777 120466777 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:120466777G>A ENST00000355622.6 + 1 128 c.27G>A c.(25-27)ggG>ggA p.G9G TLR4_ENST00000394487.4_5'UTR|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 9 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GCCTGGCTGGGACTCTGATCC 0.602000 14 20 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54163388 54163388 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:54163388G>A ENST00000265572.3 - 2 507 c.210C>T c.(208-210)ttC>ttT p.F70F OPRK1_ENST00000520287.1_Silent_p.F70F NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 70 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGCCCACGACGAACACTACGG 0.692000 43 33 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272402 158272402 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:158272402C>T ENST00000264192.3 - 8 988 c.867G>A c.(865-867)gaG>gaA p.E289E CYTIP_ENST00000540637.1_Silent_p.E183E NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 289 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 AATCATCCCCCTCCTTGGGGA 0.532000 66 69 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545613 196545613 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:196545613C>T ENST00000409086.3 + 2 1122 c.847C>T c.(847-849)Cca>Tca p.P283S SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.P283S NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 283 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TGTACATCTTCCAGAACGTAA 0.448000 43 49 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59166470 59166470 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:59166470G>A ENST00000262717.4 + 3 696 c.298G>A c.(298-300)Gga>Aga p.G100R CDH20_ENST00000536675.2_Missense_Mutation_p.G100R|CDH20_ENST00000538374.1_Missense_Mutation_p.G100R Q9HBT6 CAD20_HUMAN cadherin 20, type 2 100 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CATCCTCTCGGGAGAAGGTGC 0.502000 10 38 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295718 29295718 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:29295718G>A ENST00000331664.5 - 1 1409 c.1410C>T c.(1408-1410)tcC>tcT p.S470S NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 470 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGGAGGTTTTGGAAAGGTGTG 0.532000 35 113 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000423 56000423 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:56000423C>T ENST00000313264.4 - 1 314 c.239G>A c.(238-240)gGa>gAa p.G80E NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G80E(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TCCTAAATTTCCCATGAGAGT 0.413000 11 69 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26349172 26349172 + Missense_Mutation SNP T T C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:26349172T>C ENST00000374280.3 + 1 902 c.35T>C c.(34-36)cTg>cCg p.L12P NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 12 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTGTGGCTGGCACTGTCA 0.652000 53 60 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32756532 32756532 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr22:32756532G>A ENST00000249007.4 + 2 872 c.667G>A c.(667-669)Gga>Aga p.G223R RFPL3_ENST00000382088.3_Missense_Mutation_p.G194R|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.G194R|RFPL3S_ENST00000382084.4_3'UTR NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 223 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 TTTGAGGGATGGAAGCCGCCT 0.532000 69 52 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734148 28734148 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:28734148G>A ENST00000550043.1 + 0 553 TTCCCCCCAAGGAGTTCCTCT 0.468000 52 41 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45568333 45568333 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:45568333G>A ENST00000256692.5 - 0 352 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATTATCTACAGAATGAACTTC 0.468000 26 34 0 0 1 0 0 C12orf42 374470 broad.mit.edu 37 12 103699957 103699957 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:103699957C>T ENST00000548048.1 - 8 721 c.225G>A c.(223-225)ttG>ttA p.L75L C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.L142L|C12orf42_ENST00000548883.1_Silent_p.L142L|C12orf42_ENST00000548789.1_5'UTR Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 142 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CAGTAAAAATCAATGGGGCCT 0.458000 26 3 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6912103 6912103 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr18:6912103C>T ENST00000419673.2 + 17 1880 c.1663C>T c.(1663-1665)Cgt>Tgt p.R555C ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R555C|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R714C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R550C NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 537 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GGATGTATATCGTATAAATCC 0.373000 21 21 0 0 1 0 0 SCTR 6344 broad.mit.edu 37 2 120221704 120221704 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:120221704G>A ENST00000019103.5 - 6 898 c.631C>T c.(631-633)Cac>Tac p.H211Y NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 211 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) ATTACCCTGTGGGCATCGCAG 0.582000 30 101 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54866904 54866904 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:54866904G>A ENST00000391743.3 - 9 1063 c.783C>T c.(781-783)atC>atT p.I261I LAIR1_ENST00000434277.2_Silent_p.I278I|LAIR1_ENST00000348231.4_Silent_p.I262I|LAIR1_ENST00000474878.1_Silent_p.I261I|LAIR1_ENST00000391742.2_Silent_p.I279I|LAIR1_ENST00000313038.6_Silent_p.I272I Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 279 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CTGCATACGTGATGGACTCGG 0.597000 43 140 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165948884 165948884 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:165948884G>A ENST00000360093.3 - 27 5178 c.4687C>T c.(4687-4689)Cta>Tta p.L1563L SCN3A_ENST00000409101.3_Silent_p.L1514L|SCN3A_ENST00000283254.7_Silent_p.L1563L|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000540861.1_Silent_p.L46L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1563 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATGAACACTAGGTTGATCCGG 0.458000 58 48 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54850615 54850615 + Splice_Site SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:54850615G>A ENST00000333896.5 + 9 1410 c.e9-1 SPTBN1_ENST00000356805.4_Splice_Site NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CCTGTGTTTAGATTTACTGAG 0.428000 31 50 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21101926 21101926 + Missense_Mutation SNP G G T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr22:21101926G>T ENST00000255882.6 - 29 3394 c.3308C>A c.(3307-3309)gCc>gAc p.A1103D PI4KA_ENST00000572273.1_Missense_Mutation_p.A1045D NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1045 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCTCTCAGTGGCCATGGCCAG 0.493000 42 62 1.47197e-15 1.49879e-15 1 1 0 SDHA 6389 broad.mit.edu 37 5 223656 223656 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:223656G>A ENST00000264932.6 + 2 238 c.123G>A c.(121-123)aaG>aaA p.K41K SDHA_ENST00000510361.1_Silent_p.K41K|SDHA_ENST00000504309.1_Silent_p.K41K NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 41 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) ATGGGAACAAGAGGGCATCTG 0.428000 Familial Paragangliomas 45 10 0 0 1 0 0 PPM1G 5496 broad.mit.edu 37 2 27607720 27607720 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:27607720G>A ENST00000344034.4 - 5 909 c.645C>T c.(643-645)tcC>tcT p.S215S PPM1G_ENST00000350803.4_Silent_p.S215S NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 215 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CCGAGTTGGAGGAAAAGCCTG 0.592000 55 58 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901204 51901204 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:51901204C>T ENST00000268919.4 + 1 966 c.810C>T c.(808-810)ttC>ttT p.F270F NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 270 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACCATGCCTTCGATGACAAAG 0.572000 16 50 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26789987 26789987 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:26789987G>A ENST00000376236.4 + 5 855 c.400G>A c.(400-402)Gat>Aat p.D134N APBB1IP_ENST00000356785.4_Missense_Mutation_p.D134N NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 134 Pro-rich. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium p.D134N(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TCCACCAGCCGATCCTGTGTT 0.512000 41 96 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130023604 130023604 + Missense_Mutation SNP A A G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:130023604A>G ENST00000011292.3 + 6 815 c.665A>G c.(664-666)aAc>aGc p.N222S CPA1_ENST00000484324.1_Missense_Mutation_p.N134S NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 222 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) ATCGTCACCAACCCTGATGGC 0.567000 77 72 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114170964 114170964 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:114170964C>T ENST00000357077.4 + 10 989 c.936C>T c.(934-936)gaC>gaT p.D312D ANK2_ENST00000394537.3_Silent_p.D312D|ANK2_ENST00000264366.6_Silent_p.D312D|ANK2_ENST00000506722.1_Silent_p.D291D NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 312 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.D312D(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GTGGGCATGACCAAGTGGTGG 0.443000 15 24 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148572 34148572 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:34148572G>A ENST00000346193.3 - 1 1875 c.1824C>T c.(1822-1824)ctC>ctT p.L608L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 608 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGAATTCACGGAGTTTTTCCG 0.448000 40 4 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70729975 70729975 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:70729975C>T ENST00000354185.4 + 8 1353 c.1255C>T c.(1255-1257)Cac>Tac p.H419Y NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 419 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TATTAAGTGCCACTGGACTCA 0.398000 25 38 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767603 31767603 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:31767603G>A ENST00000240587.4 - 2 3423 c.3096C>T c.(3094-3096)tcC>tcT p.S1032S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1032 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CTTCCTCGGGGGAGGACGTCA 0.498000 27 13 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4249767 4249767 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:4249767G>A ENST00000404826.2 + 38 5651 c.5512G>A c.(5512-5514)Gtg>Atg p.V1838M SDK1_ENST00000389531.3_Missense_Mutation_p.V1818M NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1838 Fibronectin type-III 12. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTATCGGGTGGTGTACGAGCC 0.642000 33 84 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2021456 2021456 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:2021456C>T ENST00000262113.4 + 10 1137 c.996C>T c.(994-996)ttC>ttT p.F332F MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 332 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CGAAGATGTTCTTTGGAGAAG 0.572000 23 95 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519259 50519259 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:50519259G>A ENST00000267842.5 + 7 1573 c.1341G>A c.(1339-1341)aaG>aaA p.K447K SLC27A2_ENST00000380902.4_Silent_p.K394K|SLC27A2_ENST00000544960.1_Silent_p.K212K NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 447 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGACAGAGAAGAAAAAACTGA 0.388000 16 57 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161221472 161221472 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:161221472C>T ENST00000327928.4 + 4 1176 c.1176C>T c.(1174-1176)taC>taT p.Y392Y NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 392 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TTTTTTCCTACCATATTACGG 0.438000 9 25 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100341902 100341902 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:100341902G>A ENST00000437033.2 - 6 1116 c.613C>T c.(613-615)Ctg>Ttg p.L205L ADH7_ENST00000482593.1_Silent_p.L148L|ADH7_ENST00000209665.4_Silent_p.L217L|ADH7_ENST00000476959.1_Silent_p.L225L P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 217 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) ATGACTGACAGGCCAACTCCT 0.488000 63 34 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596767 24596767 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:24596767G>A ENST00000535378.1 - 4 750 c.108C>T c.(106-108)atC>atT p.I36I KIAA0319_ENST00000537886.1_Silent_p.I45I|KIAA0319_ENST00000430948.2_5'UTR|KIAA0319_ENST00000378214.3_Silent_p.I45I|KIAA0319_ENST00000543707.1_Silent_p.I45I NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 45 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 ACACCCGCATGATTCTGGTGG 0.542000 28 44 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58980668 58980668 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:58980668C>T ENST00000536459.2 + 2 825 c.116C>T c.(115-117)tCg>tTg p.S39L ZNF324_ENST00000196482.3_Missense_Mutation_p.S39L O75467 Z324A_HUMAN zinc finger protein 324 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTTGTGGCCTCGCTGGGTAAG 0.612000 14 39 0 0 1 0 0 TRIM16L 147166 broad.mit.edu 37 17 18630844 18630844 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:18630844G>A ENST00000395902.3 + 6 529 c.136G>A c.(136-138)Gtg>Atg p.V46M TRIM16L_ENST00000449552.2_5'UTR|TRIM16L_ENST00000414850.2_5'UTR|TRIM16L_ENST00000571708.1_5'UTR|TRIM16L_ENST00000395671.4_5'UTR|TRIM16L_ENST00000395672.2_5'UTR|TRIM16L_ENST00000572555.1_5'UTR Q309B1 TR16L_HUMAN tripartite motif containing 16-like 0 cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 CCAGGTGTCGGTGTCAGAGGT 0.512000 9 58 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45882540 45882540 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:45882540G>A ENST00000443527.2 + 4 694 c.672G>A c.(670-672)gaG>gaA p.E224E CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Silent_p.E142E NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 203 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 AGATCCAGGAGAACCACGACG 0.602000 42 39 0 0 1 0 0 RNF144B 255488 broad.mit.edu 37 6 18465228 18465228 + Missense_Mutation SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:18465228C>A ENST00000259939.3 + 8 1159 c.842C>A c.(841-843)cCa>cAa p.P281Q RNF144B_ENST00000429054.2_Missense_Mutation_p.P192Q NM_182757.3 NP_877434.2 Q7Z419 R144B_HUMAN ring finger protein 144B 281 apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7) 11 Ovarian(93;0.00365)|Breast(50;0.0145) all_hematologic(90;0.0536) OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105) CTGGCCTCCCCATGTATAATC 0.473000 7 31 0.000157383 0.000158328 1 1 0 GRM7 2917 broad.mit.edu 37 3 7188181 7188181 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:7188181G>A ENST00000486284.1 + 2 836 c.562G>A c.(562-564)Gat>Aat p.D188N GRM7_ENST00000389336.4_Missense_Mutation_p.D188N|GRM7_ENST00000402647.2_Missense_Mutation_p.D188N|GRM7_ENST00000403881.1_Missense_Mutation_p.D188N|GRM7_ENST00000357716.4_Missense_Mutation_p.D188N NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 188 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) CGAGCTAAGTGATGACCGGCG 0.517000 32 115 0 0 1 0 0 CNNM1 26507 broad.mit.edu 37 10 101117322 101117322 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:101117322C>T ENST00000356713.4 + 2 1916 c.1627C>T c.(1627-1629)Cct>Tct p.P543S CNNM1_ENST00000446890.1_Missense_Mutation_p.P472S|CNNM1_ENST00000370534.4_Missense_Mutation_p.P178S|CNNM1_ENST00000370528.3_Missense_Mutation_p.P472S NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 543 CBS 2. ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) AGAAGGGGACCCTTTCTATGA 0.453000 9 21 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17838132 17838132 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:17838132G>A ENST00000325083.8 + 24 4415 c.3976G>A c.(3976-3978)Gaa>Aaa p.E1326K PCM1_ENST00000327578.8_Missense_Mutation_p.E6K|PCM1_ENST00000519253.1_Missense_Mutation_p.E1326K|PCM1_ENST00000524226.1_Intron NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 1326 Interaction with HAP1. E -> D (in dbSNP:rs34932823). centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TAGCACATGTGAACCTTGCAA 0.388000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 91 64 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27460435 27460435 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:27460435C>T ENST00000337929.3 + 9 1921 c.1448C>T c.(1447-1449)gCc>gTc p.A483V IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.A483V|IL21R_ENST00000395754.4_Missense_Mutation_p.A483V|IL21R_ENST00000395755.1_Missense_Mutation_p.A483V NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 483 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TCACCCCTGGCCGGCCTGGAT 0.667000 T BCL6 NHL 39 6 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140081953 140081953 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:140081953G>A ENST00000323927.2 - 2 724 c.720C>T c.(718-720)ttC>ttT p.F240F NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 240 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TGAGCTGATGGAACTGCTCCA 0.637000 31 49 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40127760 40127760 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:40127760C>T ENST00000261435.6 + 12 4753 c.4337C>T c.(4336-4338)tCc>tTc p.S1446F NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1446 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GTAGATCCTTCCTTGGTTGGA 0.333000 71 54 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16855834 16855834 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:16855834G>A ENST00000261652.2 - 2 137 c.125C>T c.(124-126)cCt>cTt p.P42L TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.P42L|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000583789.1_Intron NM_012452.2 NP_036584.1 O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 42 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 ACCCAGCAGAGGATCCCAGTA 0.617000 IgA Deficiency, Selective 30 9 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63672277 63672277 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:63672277C>T ENST00000402010.2 + 16 2275 c.1696C>T c.(1696-1698)Cct>Tct p.P566S MARK2_ENST00000509502.2_Missense_Mutation_p.P532S|MARK2_ENST00000425897.2_Missense_Mutation_p.P486S|MARK2_ENST00000513765.2_Missense_Mutation_p.P533S|MARK2_ENST00000377809.4_Missense_Mutation_p.P566S|MARK2_ENST00000502399.3_Missense_Mutation_p.P565S|MARK2_ENST00000408948.3_Missense_Mutation_p.P478S|MARK2_ENST00000508192.1_Missense_Mutation_p.P511S|MARK2_ENST00000413835.2_Missense_Mutation_p.P512S|MARK2_ENST00000377810.3_Missense_Mutation_p.P478S|MARK2_ENST00000361128.5_Missense_Mutation_p.P512S|MARK2_ENST00000350490.7_Missense_Mutation_p.P511S|MARK2_ENST00000315032.8_Missense_Mutation_p.P566S NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 566 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.P532S(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CCAGCGTGTCCCTGTTGCCTC 0.627000 55 72 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61894226 61894226 + Splice_Site SNP A A G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:61894226A>G ENST00000578681.1 + 18 2614 c.e18-1 DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TTATTTTTTTAGGATCGAGGA 0.403000 3 43 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3653762 3653762 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:3653762G>A ENST00000263087.4 - 16 2006 c.1908C>T c.(1906-1908)tcC>tcT p.S636S NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 636 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GGGCCACCGTGGAGGCTCTGA 0.617000 25 9 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51410324 51410324 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:51410324G>A ENST00000324041.1 - 5 630 c.631C>T c.(631-633)Ctg>Ttg p.L211L KLK4_ENST00000431178.2_3'UTR NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 211 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) TTGCAGATCAGGGGCCCCCCA 0.527000 51 32 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57564318 57564318 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:57564318G>A ENST00000524630.1 + 6 1323 c.810G>A c.(808-810)gtG>gtA p.V270V CTNND1_ENST00000534579.1_Silent_p.V216V|CTNND1_ENST00000528621.1_Silent_p.V216V|CTNND1_ENST00000532844.1_Silent_p.V216V|CTNND1_ENST00000529919.1_Silent_p.V270V|CTNND1_ENST00000532245.1_Silent_p.V169V|CTNND1_ENST00000526357.1_Silent_p.V216V|CTNND1_ENST00000361332.4_Silent_p.V270V|CTNND1_ENST00000428599.2_Silent_p.V270V|CTNND1_ENST00000415361.2_Silent_p.V169V|CTNND1_ENST00000528232.1_Silent_p.V169V|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000358694.6_Silent_p.V270V|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529986.1_Silent_p.V169V|CTNND1_ENST00000532649.1_Silent_p.V216V|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000532463.1_Silent_p.V169V|CTNND1_ENST00000361796.4_Silent_p.V270V|CTNND1_ENST00000361391.6_Silent_p.V270V|CTNND1_ENST00000530748.1_Silent_p.V216V|CTNND1_ENST00000529873.1_Silent_p.V216V|CTNND1_ENST00000530094.1_Silent_p.V169V|CTNND1_ENST00000426142.2_Silent_p.V169V|CTNND1_ENST00000399050.4_Silent_p.V270V|CTNND1_ENST00000399039.4_Silent_p.V270V|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000360682.6_Silent_p.V270V|CTNND1_ENST00000532787.1_Silent_p.V169V|CTNND1_ENST00000529526.1_Silent_p.V216V|CTNND1_ENST00000526938.1_Silent_p.V270V O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 270 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) GGAGCAGCGTGGATCTGCATC 0.542000 62 247 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9225637 9225637 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:9225637G>A ENST00000293614.1 - 1 802 c.803C>T c.(802-804)tCc>tTc p.S268F OR7G1_ENST00000541538.1_Missense_Mutation_p.S268F Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 268 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 AGTAATTCGGGAAGACTCAGC 0.448000 23 75 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579717 7579717 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:7579717G>A ENST00000420246.2 - 3 211 c.79C>T c.(79-81)Cct>Tct p.P27S TP53_ENST00000413465.2_Missense_Mutation_p.P27S|TP53_ENST00000445888.2_Missense_Mutation_p.P27S|TP53_ENST00000269305.4_Missense_Mutation_p.P27S|TP53_ENST00000455263.2_Missense_Mutation_p.P27S|TP53_ENST00000359597.4_Missense_Mutation_p.P27S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 27 Interaction with HRMT1L2.|Transcription activation (acidic). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.P27fs*17(2)|p.P13fs*18(1)|p.L26fs*11(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGTTTTCAGGAAGTCTGAAA 0.622000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 49 5 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83631273 83631273 + Missense_Mutation SNP G G A rs137871935 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:83631273G>A ENST00000265362.3 - 12 1764 c.1450C>T c.(1450-1452)Cgg>Tgg p.R484W SEMA3A_ENST00000436949.1_Missense_Mutation_p.R484W NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 484 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GCACTCACCCGAAAAACTGTC 0.418000 9 49 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110576361 110576361 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:110576361G>A ENST00000338081.3 - 4 1140 c.969C>T c.(967-969)ttC>ttT p.F323F DCX_ENST00000356915.2_Silent_p.F242F|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Silent_p.F242F|DCX_ENST00000488120.1_Silent_p.F242F|DCX_ENST00000371993.2_Silent_p.F242F NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 323 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 CATCACCAAAGAAATCATGGA 0.403000 4 2 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67101675 67101675 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:67101675C>T ENST00000284425.2 - 20 2842 c.2668G>A c.(2668-2670)Gaa>Aaa p.E890K NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 890 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) AAATACAATTCGTTTTTAAAT 0.328000 10 30 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41137517 41137517 + Missense_Mutation SNP G G T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:41137517G>T ENST00000380588.4 + 3 259 c.156G>T c.(154-156)aaG>aaT p.K52N IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 52 Ig-like V-type 1. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) GAGTCCTGAAGGGCTCCCAGG 0.527000 17 20 1.30988e-24 1.33916e-24 1 1 0 F10 2159 broad.mit.edu 37 13 113803738 113803738 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr13:113803738C>T ENST00000375559.3 + 8 1412 c.1374C>T c.(1372-1374)ttC>ttT p.F458F F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 458 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACCGCCTTCCTCAAGTGGA 0.577000 31 110 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159277667 159277667 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:159277667G>A ENST00000368115.1 + 6 818 c.719G>A c.(718-720)aGg>aAg p.R240K FCER1A_ENST00000368114.1_Missense_Mutation_p.R207K NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 240 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) AAGAGAACCAGGAAAGGCTTC 0.383000 51 44 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322664 31322664 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:31322664G>A ENST00000580599.1 + 3 474 c.65G>A c.(64-66)gGt>gAt p.G22D SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000269053.3_Missense_Mutation_p.G91D Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 91 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) AAGCTCTACGGTCGTTGTGAA 0.622000 36 51 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806017 54806017 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:54806017G>A ENST00000306858.7 + 5 2364 c.2248G>A c.(2248-2250)Gaa>Aaa p.E750K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 750 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) GAATAAAGAGGAATCTAACAA 0.413000 47 74 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64880685 64880685 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:64880685G>A ENST00000533854.1 + 5 714 c.477G>A c.(475-477)gaG>gaA p.E159E CACNG5_ENST00000169565.3_Silent_p.E159E|CACNG5_ENST00000307139.3_Silent_p.E159E Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 159 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TCAACGATGAGATGCTCAACA 0.567000 32 93 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20760871 20760871 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr22:20760871C>T ENST00000400451.2 + 5 2062 c.1548C>T c.(1546-1548)atC>atT p.I516I ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Silent_p.I516I|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000405993.1_Silent_p.I484I NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 516 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGTCCCTCATCGTGCACCAGC 0.592000 40 138 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44492363 44492363 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:44492363G>A ENST00000425708.2 - 4 1031 c.690C>T c.(688-690)ctC>ctT p.L230L ZNF445_ENST00000396077.2_Silent_p.L230L P59923 ZN445_HUMAN zinc finger protein 445 230 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GGCTCACCTGGAGCTGGGCTG 0.577000 6 6 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109518567 109518567 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr13:109518567G>A ENST00000356711.2 + 12 1462 c.1336G>A c.(1336-1338)Gag>Aag p.E446K MYO16_ENST00000357550.2_Missense_Mutation_p.E446K|MYO16_ENST00000251041.5_Missense_Mutation_p.E446K NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 446 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCCATACAAGGAGCTTCCAAT 0.308000 20 91 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169673787 169673787 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:169673787C>T ENST00000236147.4 - 5 887 c.727G>A c.(727-729)Gga>Aga p.G243R SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 230 Sushi 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) AAGTTTGTTCCTTCAGAGCAG 0.502000 5 3 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46760858 46760858 + Nonsense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:46760858G>A ENST00000311907.5 + 14 1825 c.1769G>A c.(1768-1770)tGg>tAg p.W590* F2_ENST00000530231.1_Nonsense_Mutation_p.W551* NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 590 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) ATCGTCTCATGGGGTGAAGGC 0.463000 54 60 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46396386 46396386 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:46396386C>T ENST00000454345.1 + 19 2284 c.2159C>T c.(2158-2160)cCc>cTc p.P720L DGKZ_ENST00000421244.2_Missense_Mutation_p.P532L|DGKZ_ENST00000343674.6_Missense_Mutation_p.P548L|DGKZ_ENST00000528615.1_Missense_Mutation_p.P310L|DGKZ_ENST00000456247.2_Missense_Mutation_p.P531L|DGKZ_ENST00000527911.1_Missense_Mutation_p.P532L|DGKZ_ENST00000532868.2_Missense_Mutation_p.P536L|DGKZ_ENST00000318201.8_Missense_Mutation_p.P509L|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Missense_Mutation_p.P498L NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 720 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CTGAACATCCCCAGGTGAGGA 0.597000 41 52 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55894190 55894190 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:55894190C>T ENST00000447944.2 - 13 1198 c.1112G>A c.(1111-1113)aGt>aAt p.S371N NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 371 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TACCTCACAACTTACATTCCT 0.328000 36 40 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83328416 83328416 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:83328416G>A ENST00000261722.3 - 26 3352 c.3145C>T c.(3145-3147)Ctg>Ttg p.L1049L AP3B2_ENST00000535348.1_Silent_p.L1017L|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.L1068L NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 1049 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CGGGCATCCAGGGTCAGCAGA 0.562000 15 42 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 198001381 198001381 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:198001381G>A ENST00000328737.2 - 4 197 c.121C>T c.(121-123)Cgt>Tgt p.R41C ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R41C|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R58C|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R41C|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R66C|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R66C Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 66 protein binding p.R41C(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCATTTACACGAGCTCCTGGA 0.468000 31 31 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99799946 99799946 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:99799946C>T ENST00000426455.1 + 24 2953 c.2546C>T c.(2545-2547)cCg>cTg p.P849L STAG3_ENST00000317296.5_Missense_Mutation_p.P849L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.P791L Q9UJ98 STAG3_HUMAN stromal antigen 3 849 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTCATCCAGCCGGGAGACCTG 0.547000 34 140 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92224289 92224289 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:92224289G>A ENST00000212355.4 - 4 730 c.265C>T c.(265-267)Ccc>Tcc p.P89S TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P89S|TGFBR3_ENST00000525962.1_Missense_Mutation_p.P89S NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 89 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GAGGAGATGGGATTCAGGTGA 0.507000 49 98 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48306127 48306127 + Silent SNP G G T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:48306127G>T ENST00000535759.1 - 4 431 c.432C>A c.(430-432)gtC>gtA p.V144V TPRX1_ENST00000543508.1_Silent_p.V47V|TPRX1_ENST00000322175.3_Silent_p.V47V Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 47 Gly-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) AGGCTGCAGGGACTAGGGGCG 0.726000 8 9 0.0692343 0.0692343 1 1 0 LCT 3938 broad.mit.edu 37 2 136566053 136566053 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:136566053C>T ENST00000264162.2 - 8 3874 c.3864G>A c.(3862-3864)agG>agA p.R1288R NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1288 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) GGTAAAATATCCTATCAGTAT 0.463000 125 185 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6681984 6681984 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:6681984C>T ENST00000245907.6 - 35 4410 c.4318G>A c.(4318-4320)Gat>Aat p.D1440N NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1440 Properdin-binding. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTGTTCCTATCGGAGAAGGCT 0.547000 45 119 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598113 49598113 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:49598113C>T ENST00000527477.1 + 0 717 GGCTGTGGCCCTAGAGCAGAG 0.527000 17 19 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114158691 114158691 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:114158691C>T ENST00000393081.1 + 3 496 c.189C>T c.(187-189)aaC>aaT p.N63N ACSL5_ENST00000354655.4_Silent_p.N63N|ACSL5_ENST00000354273.4_Silent_p.N63N|ACSL5_ENST00000433418.1_Silent_p.N63N|ACSL5_ENST00000356116.1_Silent_p.N119N|ACSL5_ENST00000479936.1_3'UTR NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 63 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CCCAGAAGAACAATGACCTAA 0.478000 30 33 0 0 1 0 0 VPS41 27072 broad.mit.edu 37 7 38810819 38810819 + Missense_Mutation SNP A A T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:38810819A>T ENST00000310301.4 - 14 1218 c.1164T>A c.(1162-1164)aaT>aaA p.N388K VPS41_ENST00000395969.2_Missense_Mutation_p.N363K NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 388 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GTCTTTTAATATTTTTTTGGC 0.279000 28 55 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70972629 70972629 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:70972629C>T ENST00000393567.2 - 44 7033 c.6883G>A c.(6883-6885)Gag>Aag p.E2295K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2295 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) CGCTCCTTCTCTTTCTCAAGA 0.542000 18 41 0 0 1 0 0 PAPSS2 9060 broad.mit.edu 37 10 89504779 89504779 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:89504779C>T ENST00000361175.4 + 11 1866 c.1497C>T c.(1495-1497)tcC>tcT p.S499S PAPSS2_ENST00000456849.1_Silent_p.S504S|PAPSS2_ENST00000427144.2_Silent_p.S503S NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 499 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) ACTGCAGGTCCCGGATGATTG 0.502000 15 16 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46760925 46760925 + Nonsense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:46760925G>A ENST00000311907.5 + 14 1892 c.1836G>A c.(1834-1836)tgG>tgA p.W612* F2_ENST00000530231.1_Nonsense_Mutation_p.W573* NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 612 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TGAAGAAGTGGATACAGAAGG 0.473000 44 62 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161580244 161580244 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:161580244G>A ENST00000356592.3 + 10 1758 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q GABRG2_ENST00000361925.4_Missense_Mutation_p.R425Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R330Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R473Q NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 425 Interaction with GABARAP (Potential). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.R433Q(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GAAGATTGTCGAACAGGAGCT 0.468000 35 50 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 36986129 36986129 + Translation_Start_Site SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:36986129G>A ENST00000497382.1 + 0 614 VIT_ENST00000401530.1_Missense_Mutation_p.G143S|VIT_ENST00000379241.3_Missense_Mutation_p.G143S|VIT_ENST00000389975.3_Missense_Mutation_p.G143S|VIT_ENST00000457137.2_Missense_Mutation_p.G143S|VIT_ENST00000379242.3_Missense_Mutation_p.G143S|VIT_ENST00000404084.1_Missense_Mutation_p.G121S Q6UXI7 VITRN_HUMAN vitrin proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) ACCCAAAAAGGGTGTAACCTA 0.398000 89 112 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42711363 42711363 + Missense_Mutation SNP G G A rs45590635 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr5:42711363G>A ENST00000230882.4 + 7 863 c.673G>A c.(673-675)Gaa>Aaa p.E225K GHR_ENST00000537449.1_Missense_Mutation_p.E38K|GHR_ENST00000357703.3_Missense_Mutation_p.E203K 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 225 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGTGGATAAGGAATATGAAGT 0.398000 86 117 0 0 1 0 0 LINC00854 100874261 broad.mit.edu 37 17 41381938 41381938 + RNA SNP C C G rs4986161 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:41381938C>G ENST00000433702.2 - 0 14 NR_047479.1 aagagctgatcttatgcaggg 0.552000 5 45 0 0 1 0 0 CEP57 9702 broad.mit.edu 37 11 95551057 95551057 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:95551057C>T ENST00000325542.5 + 5 849 c.611C>T c.(610-612)gCc>gTc p.A204V CEP57_ENST00000541150.1_Missense_Mutation_p.A195V|CEP57_ENST00000325486.5_Missense_Mutation_p.A204V|CEP57_ENST00000537677.1_Missense_Mutation_p.A177V|CEP57_ENST00000538658.1_Missense_Mutation_p.A204V NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 204 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACAATGCAGGCCCTTGCAGAA 0.338000 Mosaic Variegated Aneuploidy Syndrome 41 57 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50699455 50699455 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:50699455C>T ENST00000404971.1 - 17 4684 c.3345G>A c.(3343-3345)caG>caA p.Q1115Q NRXN1_ENST00000401669.2_Silent_p.Q1075Q|NRXN1_ENST00000401710.1_Silent_p.Q84Q|NRXN1_ENST00000406859.3_Silent_p.Q1075Q|NRXN1_ENST00000406316.2_Silent_p.Q1075Q|NRXN1_ENST00000402717.3_Silent_p.Q1067Q|NRXN1_ENST00000405472.3_Silent_p.Q1067Q|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1075 EGF-like 3. 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) CTCTCTCGATCTGTCCGTTGC 0.433000 24 26 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16467092 16467092 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:16467092G>A ENST00000395824.1 - 4 1166 c.549C>T c.(547-549)gaC>gaT p.D183D ZNF287_ENST00000395825.3_Silent_p.D183D Q9HBT7 ZN287_HUMAN zinc finger protein 287 176 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTAACTCCCAGTCCTCCTGGG 0.423000 52 2 0 0 1 0 0 GPM6B 2824 broad.mit.edu 37 X 13803745 13803745 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:13803745C>T ENST00000454189.2 - 2 314 c.187G>A c.(187-189)Gag>Aag p.E63K GPM6B_ENST00000493677.1_Missense_Mutation_p.E96K|GPM6B_ENST00000316715.4_Missense_Mutation_p.E122K|GPM6B_ENST00000356942.5_Missense_Mutation_p.E82K|GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000355135.2_Missense_Mutation_p.E122K NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 82 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 ACTTACACCTCGCTCAGCAAG 0.567000 44 6 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086413 92086413 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:92086413G>A ENST00000298047.6 + 1 1152 c.1135G>A c.(1135-1137)Gaa>Aaa p.E379K FAT3_ENST00000541502.1_Missense_Mutation_p.E379K|FAT3_ENST00000409404.2_Missense_Mutation_p.E379K|FAT3_ENST00000525166.1_Missense_Mutation_p.E229K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 379 Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.E379Q(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTTGAAAAAGAAGTGTACGA 0.403000 TCGA Ovarian(4;0.039) 9 16 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526198 176526198 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:176526198C>T ENST00000367662.3 + 2 1904 c.740C>T c.(739-741)tCc>tTc p.S247F PAPPA2_ENST00000367661.3_Missense_Mutation_p.S247F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 247 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 GGAGAGGGCTCCTACCGAGAA 0.532000 81 71 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41101674 41101674 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:41101674G>A ENST00000372684.3 - 4 742 c.273C>T c.(271-273)atC>atT p.I91I RIMS3_ENST00000372683.1_Silent_p.I91I NM_014747.2 NP_055562.2 Q9UJD0 RIMS3_HUMAN regulating synaptic membrane exocytosis 3 91 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) TCTCCACCGCGATGCCTGTCT 0.667000 33 79 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849693 73849693 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:73849693G>A ENST00000523207.1 + 3 2691 c.2103G>A c.(2101-2103)aaG>aaA p.K701K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 701 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACAGTCCTAAGAGCTCTCTAA 0.517000 33 144 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28792354 28792354 + Silent SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:28792354C>A ENST00000373839.3 + 5 691 c.430C>A c.(430-432)Cga>Aga p.R144R PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.R154R NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 144 actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CCTAAAGAAACGACTAGGTAA 0.423000 33 88 1.90571e-15 1.93651e-15 1 1 0 NDUFB2 4708 broad.mit.edu 37 7 140402711 140402711 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:140402711C>T ENST00000476279.1 + 2 218 c.144C>T c.(142-144)ccC>ccT p.P48P NDUFB2_ENST00000204307.5_Silent_p.P38P|NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000247866.4_Silent_p.P48P|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000475276.1_Silent_p.P21P|NDUFB2_ENST00000471136.1_Silent_p.P36P|NDUFB2_ENST00000465506.1_Silent_p.P48P O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa 48 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1) 10 Melanoma(164;0.00956) NADH(DB00157) GACAGTTCCCCCAGCTGACCA 0.537000 147 77 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947261 237947261 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:237947261C>T ENST00000366574.2 + 90 12566 c.12249C>T c.(12247-12249)ttC>ttT p.F4083F RYR2_ENST00000360064.6_Silent_p.F4089F|RYR2_ENST00000542537.1_Silent_p.F4067F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4083 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) ACGAAGAGTTCGTCAAACGCT 0.512000 14 50 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166892978 166892978 + Silent SNP A A T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:166892978A>T ENST00000423058.2 - 16 3026 c.3009T>A c.(3007-3009)acT>acA p.T1003T SCN1A_ENST00000409050.1_Silent_p.T975T|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T1003T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.T992T NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1003 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TATCATCATCAGTGGCTGCAA 0.343000 10 52 0 0 1 0 0 EIF5B 9669 broad.mit.edu 37 2 99995850 99995850 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:99995850C>T ENST00000289371.5 + 12 2222 c.2020C>T c.(2020-2022)Cct>Tct p.P674S NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 674 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CACCAATGTTCCTCTTGAAGC 0.343000 13 38 0 0 1 0 0 PLSCR2 57047 broad.mit.edu 37 3 146177757 146177757 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:146177757G>A ENST00000497985.1 - 4 593 c.154C>T c.(154-156)Cca>Tca p.P52S PLSCR2_ENST00000336685.2_5'UTR NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 0 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 CCAGCAGGTGGGACTAGGTAG 0.567000 29 29 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54823363 54823363 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:54823363C>T ENST00000301219.3 - 4 299 c.180G>A c.(178-180)ggG>ggA p.G60G LILRA5_ENST00000432233.3_Silent_p.G60G|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.G48G|LILRA5_ENST00000346508.3_Silent_p.G48G NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 60 Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACAGAGTTCCCCCGGCTGA 0.612000 34 80 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36831765 36831765 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:36831765G>A ENST00000270001.7 - 5 1078 c.963C>T c.(961-963)ttC>ttT p.F321F NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F321F(1) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) GACCACATACGAAGGCTTTCC 0.413000 56 47 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89912291 89912291 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:89912291C>T ENST00000389297.4 + 13 1709 c.1458C>T c.(1456-1458)ctC>ctT p.L486L C7orf63_ENST00000497910.1_Silent_p.L468L|C7orf63_ENST00000316089.8_Silent_p.L486L NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 486 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GTTTAAGACTCCTGAGAGCCG 0.413000 38 38 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18847965 18847965 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:18847965C>T ENST00000266505.7 - 12 1603 c.1340G>A c.(1339-1341)gGg>gAg p.G447E PLCZ1_ENST00000435379.1_Missense_Mutation_p.G252E|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.G310E|PLCZ1_ENST00000447925.2_Missense_Mutation_p.G445E|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G229E|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G254E Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 447 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CAAAAATTTCCCATTTTGCAG 0.343000 59 56 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154108435 154108435 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:154108435G>A ENST00000368559.3 - 7 935 c.864C>T c.(862-864)ccC>ccT p.P288P NUP210L_ENST00000271854.3_Silent_p.P288P NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 288 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AATGTTCCAGGGGAAATTTCA 0.383000 34 46 0 0 1 0 0 AGTRAP 57085 broad.mit.edu 37 1 11810268 11810268 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:11810268C>T ENST00000510878.1 + 4 427 c.393C>T c.(391-393)ccC>ccT p.P131P AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000314340.5_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 0 cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) endometrium(1)|lung(3)|prostate(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) ACGCTGCGCCCGGCCCTGCCC 0.642000 9 26 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380773 124380773 + Missense_Mutation SNP G G C TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:124380773G>C ENST00000338354.3 + 41 5204 c.5098G>C c.(5098-5100)Gga>Cga p.G1700R DMBT1_ENST00000368955.3_Missense_Mutation_p.G1690R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1690R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1072R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1700R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1072R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1700 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAGGGCTCAGGACCCATTGT 0.612000 65 104 0 0 1 0 0 OR51B4 79339 broad.mit.edu 37 11 5322806 5322806 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:5322806C>T ENST00000380224.1 - 1 420 c.371G>A c.(370-372)cGc>cAc p.R124H HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R124H(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGTGGTGTGCGGATGGCAAT 0.453000 4 105 0 0 1 0 0 RP11-44F14.1 0 broad.mit.edu 37 16 53403514 53403514 + RNA SNP T T A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:53403514T>A ENST00000565421.1 - 0 1103 CTGTCTTCTCTTTCTTCCAGG 0.338000 3 6 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36564603 36564603 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:36564603G>A ENST00000397799.1 - 4 903 c.679C>T c.(679-681)Ccc>Tcc p.P227S COL8A2_ENST00000303143.4_Missense_Mutation_p.P227S|COL8A2_ENST00000481785.1_Missense_Mutation_p.P162S P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 227 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGGCCGGGGGGGCCGGGGGCA 0.716000 7 40 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49510604 49510604 + Missense_Mutation SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:49510604C>A ENST00000396029.3 - 5 1214 c.647G>T c.(646-648)cGa>cTa p.R216L ADNP_ENST00000396032.3_Missense_Mutation_p.R216L|ADNP_ENST00000371602.4_Missense_Mutation_p.R216L|ADNP_ENST00000349014.3_Missense_Mutation_p.R216L NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 ACTCTCTTCTCGGGCATTCGA 0.463000 28 67 9.39395e-14 9.50735e-14 1 1 0 TBCK 93627 broad.mit.edu 37 4 107171634 107171634 + Splice_Site SNP C C A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:107171634C>A ENST00000273980.4 - 8 1046 c.597_splice c.e8-1 p.G200_splice TBCK_ENST00000432496.2_Splice_Site_p.G200_splice|TBCK_ENST00000361687.4_Splice_Site_p.G137_splice|TBCK_ENST00000394706.3_Splice_Site_p.G161_splice|TBCK_ENST00000394708.2_Splice_Site_p.G200_splice Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 200 Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TAATTTTCTTCCCTAAATAAA 0.274000 8 38 1.12685e-05 1.13588e-05 1 1 0 SH2D3A 10045 broad.mit.edu 37 19 6760715 6760715 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:6760715C>T ENST00000245908.6 - 3 622 c.353G>A c.(352-354)gGg>gAg p.G118E SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 118 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 TCGCAGAGGCCCCTGCCAAGT 0.612000 14 27 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117676893 117676893 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:117676893C>T ENST00000276204.6 + 3 298 c.224C>T c.(223-225)tCg>tTg p.S75L DOCK11_ENST00000276202.7_Missense_Mutation_p.S75L Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 75 Interaction with activated CDC42 (By similarity). blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TTCTAGATCTCGGTGATAGGT 0.398000 37 5 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435899 158435899 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:158435899C>T ENST00000289451.2 + 1 628 c.548C>T c.(547-549)cCt>cTt p.P183L NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 183 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) GACATCTCCCCTGTCCTTAAA 0.512000 90 214 0 0 1 0 0 TREML3P 340206 broad.mit.edu 37 6 41185676 41185676 + RNA SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr6:41185676G>A ENST00000564680.1 - 0 9 TGCAGGAAGAGGGTCTGTCCT 0.527000 16 59 0 0 1 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5653515 5653515 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:5653515G>A ENST00000354852.5 + 8 1189 c.1016G>A c.(1015-1017)aGg>aAg p.R339K TRIM34_ENST00000429814.2_5'UTR|TRIM34_ENST00000514226.1_5'UTR|HBG2_ENST00000380259.2_Intron NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 339 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) AGAAGAGAGAGGAGAGCCTCA 0.448000 OREG0003725 type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 90 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63175679 63175679 + Missense_Mutation SNP C C T rs147323107 byFrequency TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:63175679C>T ENST00000279178.3 + 8 1633 c.1384C>T c.(1384-1386)Ccc>Tcc p.P462S SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 462 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TGAAGTAATTCCCACCATAAT 0.453000 20 28 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187197476 187197476 + Silent SNP C C T rs150644991 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:187197476C>T ENST00000264692.4 + 7 864 c.531C>T c.(529-531)atC>atT p.I177I F11_ENST00000403665.2_Silent_p.I229I P03951 FA11_HUMAN coagulation factor XI 229 Apple 2. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GTGGCCGAATCTGCACTCATC 0.448000 25 73 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802781 185802781 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:185802781C>T ENST00000302277.6 + 4 3252 c.2658C>T c.(2656-2658)ctC>ctT p.L886L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 886 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CTAACAATCTCCTTCCTTCTG 0.383000 42 69 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92838160 92838160 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:92838160C>T ENST00000394468.2 - 4 822 c.745G>A c.(745-747)Gat>Aat p.D249N HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D237N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D237N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D272N NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 249 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 AGCCCTTTATCAGAATTCACT 0.398000 25 130 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211478 78211478 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr15:78211478C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA AGTCTCTCCTCCTGCTCCTGG 0.582000 50 188 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30785434 30785434 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:30785434G>A ENST00000324685.6 + 20 3440 c.3005G>A c.(3004-3006)tGa>tAa p.*1002* RNF40_ENST00000563683.1_Silent_p.*962*|RNF40_ENST00000402121.3_Silent_p.*694*|RNF40_ENST00000357890.5_Silent_p.*902* NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 0 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) TACATCAGCTGAACCTGAAAC 0.632000 23 64 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25399847 25399847 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr13:25399847G>A ENST00000255324.5 + 16 2234 c.2182G>A c.(2182-2184)Gtt>Att p.V728I RNF17_ENST00000381921.1_Missense_Mutation_p.V728I NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 728 Tudor 1. 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) CCTCTGTCCAGTTCAAGATCA 0.373000 43 67 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193029730 193029730 + Splice_Site SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:193029730C>T ENST00000342358.4 - 20 2437 c.2319_splice c.e20-1 p.E774_splice ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 774 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATGTAGATTTCCTAAAATCAA 0.408000 48 51 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17415304 17415304 + Missense_Mutation SNP T T A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:17415304T>A ENST00000302539.4 - 38 4676 c.4551A>T c.(4549-4551)gaA>gaT p.E1517D ABCC8_ENST00000389817.3_Missense_Mutation_p.E1516D NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1516 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGAGGATGTTTTCCTGCCAAG 0.627000 110 125 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173970 51173970 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:51173970C>T ENST00000440970.1 - 2 2303 c.1872G>A c.(1870-1872)ttG>ttA p.L624L SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.L721L NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 721 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) AGTGCATTTTCAAGGCGCTCT 0.517000 27 56 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32133220 32133220 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:32133220C>T ENST00000373672.3 - 52 3829 c.3313G>A c.(3313-3315)Ggg>Agg p.G1105R COL16A1_ENST00000271069.6_Missense_Mutation_p.G1105R NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1105 Triple-helical region 2 (COL2) with 2 imperfections. 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) CCACGCTCCCCCTTGATGCCC 0.622000 6 21 0 0 1 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42887208 42887208 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:42887208G>A ENST00000342560.5 + 3 596 c.508G>A c.(508-510)Gac>Aac p.D170N GDAP1L1_ENST00000537864.1_Intron NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 170 endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCTCACCACCGACTCCATGAT 0.652000 5 8 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119916956 119916956 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr12:119916956C>T ENST00000327554.2 + 4 864 c.399C>T c.(397-399)ttC>ttT p.F133F RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 133 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GTCGCCCATTCACTCCCATCC 0.468000 17 29 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142561823 142561823 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:142561823G>A ENST00000295992.3 - 4 822 c.516C>T c.(514-516)gaC>gaT p.D172D PCOLCE2_ENST00000485766.1_Silent_p.D172D NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 172 CUB 2. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 GGTAATCCCGGTCTGGCCAGT 0.478000 25 80 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66434667 66434667 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:66434667C>T ENST00000383703.3 - 15 2494 c.1891G>A c.(1891-1893)Gac>Aac p.D631N LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.D607N|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 607 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) ATGGTTATGTCGTGGGGCGTT 0.542000 51 228 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42778860 42778860 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:42778860C>T ENST00000330714.3 + 13 2024 c.1840C>T c.(1840-1842)Ccc>Tcc p.P614S NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 614 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CTCTCATTTTCCCAGTAATGA 0.468000 23 55 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72842271 72842271 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:72842271C>T ENST00000293190.5 - 11 2430 c.2284G>A c.(2284-2286)Gcc>Acc p.A762T GRIN2C_ENST00000347612.4_Missense_Mutation_p.A762T NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 762 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TTCTGCATGGCGATGCCGTAG 0.607000 43 146 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594669 179594669 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:179594669G>A ENST00000589042.1 - 63 18535 c.18311C>T c.(18310-18312)cCt>cTt p.P6104L TTN_ENST00000342992.6_Missense_Mutation_p.P4860L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P5787L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5787 Ig-like 42. 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) GAATTGAGGAGGTTCTAAAGA 0.448000 16 20 0 0 1 0 0 LYZL1 84569 broad.mit.edu 37 10 29599985 29599985 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:29599985C>T ENST00000375500.3 + 5 639 c.582C>T c.(580-582)tcC>tcT p.S194S NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 148 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) GTGAGGTTTCCTAAACTGGAA 0.507000 54 68 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73646435 73646435 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:73646435C>T ENST00000264448.6 + 3 746 c.635C>T c.(634-636)tCt>tTt p.S212F ALMS1_ENST00000409009.1_Missense_Mutation_p.S170F|ALMS1_ENST00000377715.1_Missense_Mutation_p.S212F NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 212 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTCTTCTGTTCTCCACTGCTA 0.423000 57 61 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515287 56515287 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr19:56515287G>A ENST00000390649.3 + 2 268 c.268G>A c.(268-270)Gaa>Aaa p.E90K NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 90 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAAATCTTCAGAATCGACCAC 0.448000 13 43 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066410 73066410 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:73066410C>T ENST00000429829.1 - 0 6178 NR_001564.2 ACATAAATGTCCAAGATGCAT 0.483000 27 7 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75039062 75039062 + Missense_Mutation SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:75039062C>T ENST00000326665.5 - 14 2550 c.2332G>A c.(2332-2334)Gat>Aat p.D778N C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 778 Glu-rich. 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 GGCGCTTCATCTTCCTCCATT 0.498000 30 143 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389124 48389124 + Missense_Mutation SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr10:48389124G>A ENST00000224600.4 - 1 1867 c.1754C>T c.(1753-1755)cCc>cTc p.P585L NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 585 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) GCTGCCTTCGGGTGTGTCCAG 0.662000 25 48 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25259080 25259080 + Silent SNP C C T rs139728214 byFrequency TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:25259080C>T ENST00000216962.4 + 8 1091 c.981C>T c.(979-981)ttC>ttT p.F327F NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 327 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) GAACCTGTTTCGAGACGTTCC 0.602000 28 86 0 0 1 0 0 PDP1 54704 broad.mit.edu 37 8 94934464 94934464 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:94934464G>A ENST00000396200.3 + 3 528 c.252G>A c.(250-252)aaG>aaA p.K84K PDP1_ENST00000520728.1_Silent_p.K59K|PDP1_ENST00000517764.1_Silent_p.K59K|PDP1_ENST00000297598.4_Silent_p.K59K NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 59 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 GCAGGCCAAAGGAGAACTGGT 0.463000 44 81 0 0 1 0 0 IQSEC2 23096 broad.mit.edu 37 X 53271020 53271020 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chrX:53271020G>A ENST00000396435.3 - 10 3161 c.2961C>T c.(2959-2961)ccC>ccT p.P987P IQSEC2_ENST00000375365.2_Silent_p.P782P|IQSEC2_ENST00000375368.5_Silent_p.P977P NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 977 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 CTAGCCTCTGGGGGCGGTTTG 0.572000 25 0 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986059 11986059 + RNA SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:11986059C>T ENST00000434078.2 + 0 608 NR_027425.1 GATAGGCATTCTCTCCATTGA 0.507000 32 17 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747291 158747291 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:158747291G>A ENST00000339258.1 - 1 134 c.135C>T c.(133-135)atC>atT p.I45I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 45 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) TGACTGAGAAGATGAGCATGT 0.488000 43 215 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75898447 75898447 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr13:75898447G>A ENST00000377636.3 - 11 2470 c.2124C>T c.(2122-2124)ttC>ttT p.F708F TBC1D4_ENST00000431480.2_Silent_p.F708F|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 708 Ser-rich. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AGGGGGCAGTGAAGGAAGGGG 0.458000 43 55 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98073321 98073321 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:98073321C>T ENST00000354924.2 + 1 624 c.624C>T c.(622-624)atC>atT p.I208I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I208I(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 CAATTCAAATCTTTACCATTG 0.343000 34 55 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144998535 144998535 + Silent SNP G G A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:144998535G>A ENST00000322810.4 - 31 6142 c.5973C>T c.(5971-5973)atC>atT p.I1991I PLEC_ENST00000357649.2_Silent_p.I1858I|PLEC_ENST00000527096.1_Silent_p.I1877I|PLEC_ENST00000354589.3_Silent_p.I1854I|PLEC_ENST00000345136.3_Silent_p.I1854I|PLEC_ENST00000398774.2_Silent_p.I1822I|PLEC_ENST00000356346.3_Silent_p.I1840I|PLEC_ENST00000436759.2_Silent_p.I1881I|PLEC_ENST00000354958.2_Silent_p.I1832I NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1991 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTTGAGCGCGATCTCCGCCT 0.736000 23 30 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56232982 56232982 + Silent SNP C C T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:56232982C>T ENST00000268912.5 + 1 489 c.468C>T c.(466-468)tcC>tcT p.S156S NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTGTCCACTCCATTGTCCAAC 0.532000 48 61 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67390736 67390756 + In_Frame_Del DEL GGCGGCAGCAGCGAAGGTGGC GGCGGCAGCAGCGAAGGTGGC - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:67390736_67390756delGGCGGCAGCAGCGAAGGTGGC ENST00000401041.1 + 1 95_115 c.25_45delGGCGGCAGCAGCGAAGGTGGC c.(25-45)del p.GGSSEGG9del MIER1_ENST00000371016.1_5'UTR|MIER1_ENST00000355977.6_5'UTR|MIER1_ENST00000357692.2_5'UTR|MIER1_ENST00000371018.3_5'UTR|MIER1_ENST00000371014.1_In_Frame_Del_p.GGSSEGG9del|MIER1_ENST00000371012.2_5'UTR NM_001077700.2 NP_001071168.2 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 0 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 TTCAggcggtggcggcagcagcgaaggtggcggcggcagca 0.674 2 4 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143174793 143174793 + RNA DEL G G - rs111919200 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:143174793delG ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA ctctgaagcagtgacgcaagc 0.537 2 4 --- --- --- --- LOC101927648 101927648 broad.mit.edu 37 1 143411083 143411084 + RNA INS - - A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:143411083_143411084insA ENST00000423249.1 - 0 59 ctgcaggctgtaaaaaaaaaag 0.381 5 3 --- --- --- --- LOC101927648 101927648 broad.mit.edu 37 1 143412865 143412865 + RNA DEL A A - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:143412865delA ENST00000423249.1 - 0 59 aggctgacagaaggatggaca 0.413 4 2 --- --- --- --- LOC101927648 101927648 broad.mit.edu 37 1 143425098 143425099 + RNA INS - - A TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:143425098_143425099insA ENST00000423249.1 - 0 59 ccagtaatgctaaaaaccaacc 0.406 2 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145116193 145116193 + RNA DEL G G - rs66989703 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:145116193delG ENST00000453618.1 + 0 1279 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGCACTGGCTGGGGCATTCTC 0.428 5 3 --- --- --- --- RP11-544D21.1 0 broad.mit.edu 37 1 239451673 239451674 + RNA DEL AA AA - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr1:239451673_239451674delAA ENST00000442410.1 - 0 32 ctaatgctatAAAAAAAAAAAa 0.356 2 4 --- --- --- --- AC144450.1 0 broad.mit.edu 37 2 1601390 1601391 + RNA INS - - AC TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr2:1601390_1601391insAC ENST00000438247.1 - 0 515 acacagatcagacacacacgca 0.505 4 9 --- --- --- --- LINC00620 285375 broad.mit.edu 37 3 13693078 13693079 + RNA DEL GT GT - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:13693078_13693079delGT ENST00000419618.1 + 0 113 LINC00620_ENST00000438915.1_RNA NR_027103.1 ACTGTTCTGGgtgtgtgtgtat 0.550 2 4 --- --- --- --- ARHGEF3 50650 broad.mit.edu 37 3 56787532 56787533 + Splice_Site INS - - T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:56787532_56787533insT ENST00000413728.2 - 4 998_999 c.456_splice c.e4+1 p.S152_splice ARHGEF3_ENST00000497267.1_Splice_Site_p.S117_splice|ARHGEF3_ENST00000496106.1_Splice_Site_p.S152_splice|ARHGEF3_ENST00000495373.1_Splice_Site_p.S146_splice|ARHGEF3_ENST00000296315.3_Splice_Site_p.S146_splice|ARHGEF3_ENST00000338458.4_Splice_Site_p.S178_splice|ARHGEF3_ENST00000498517.1_5'UTR NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 146 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) TTAAATTTACCTTTTTTGCTAA 0.366 17 69 --- --- --- --- PRICKLE2-AS1 100652759 broad.mit.edu 37 3 64065825 64065825 + RNA DEL C C - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:64065825delC ENST00000482609.1 + 0 198 RP11-129B22.2_ENST00000485805.1_lincRNA NR_045697.1 AGAGCTGGCTCCCAGGTGTAG 0.507 2 4 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - - GAT rs63118461 by1000genomes TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr3:195512373_195512374insGAT ENST00000463781.3 - 2 6536_6537 c.6077_6078insATC c.(6076-6078)tac>tATCac p.2026_2027insH MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 798 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S2026_T2027insS(3) 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) TGTCACCAGTGGATGCTGAGGA 0.579 3 3 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190818258 190818260 + RNA DEL ATA ATA - rs112949874 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr4:190818258_190818260delATA ENST00000511785.1 - 0 231 gcaggtgcacataatgttttgga 0.404 3 4 --- --- --- --- AC004543.2 0 broad.mit.edu 37 7 19854750 19854750 + RNA DEL A A - rs11330936 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:19854750delA ENST00000418764.2 - 0 329 GATGAATGCCAAAAAAATTTT 0.308 3 3 --- --- --- --- APTR 100505854 broad.mit.edu 37 7 77300856 77300857 + RNA DEL TT TT - rs5885029 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr7:77300856_77300857delTT ENST00000440088.1 - 0 370 ACACTAATGCtttttttttttt 0.446 3 3 --- --- --- --- AC022182.1 0 broad.mit.edu 37 8 61863929 61863929 + RNA DEL C C - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr8:61863929delC ENST00000527672.1 + 0 323 AATGATAGTTCCACCTCTTTC 0.468 2 4 --- --- --- --- DOLK 22845 broad.mit.edu 37 9 131709390 131709404 + In_Frame_Del DEL GTAGCAGCCGGTCCC GTAGCAGCCGGTCCC - rs148171062 byFrequency TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr9:131709390_131709404delGTAGCAGCCGGTCCC ENST00000372586.3 - 1 494_508 c.179_193delGGGACCGGCTGCTAC c.(178-195)tag>t p.WDRLLQ60del RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 60 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 CTTCCCTGCTGTAGCAGCCGGTCCCACTTGTATTG 0.591 11 47 --- --- --- --- RP11-587D21.4 0 broad.mit.edu 37 11 27817193 27817194 + RNA INS - - AA rs72512382 by1000genomes TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr11:27817193_27817194insAA ENST00000530663.1 - 0 147 cctgtaagtggagagaataata 0.421 4 3 --- --- --- --- RP11-58E21.5 0 broad.mit.edu 37 14 50519464 50519465 + RNA DEL AC AC - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr14:50519464_50519465delAC ENST00000556019.2 - 0 186 gcacacacagacacacacacac 0.495 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5666686 5666686 + RNA DEL C C - rs35916077 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:5666686delC ENST00000569895.1 + 0 403 CCTTTATCTTCCGCCCCCTGA 0.592 7 2 --- --- --- --- RP11-505K9.4 0 broad.mit.edu 37 16 83952984 83952986 + RNA DEL CAC CAC - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:83952984_83952986delCAC ENST00000561562.1 + 0 300 CACAGGAGAACACAGTgcacagg 0.507 5 1 --- --- --- --- RP11-104N10.1 0 broad.mit.edu 37 16 89566284 89566284 + RNA DEL T T - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr16:89566284delT ENST00000565623.1 - 0 254 cccccagctattttttttttt 0.532 2 4 --- --- --- --- TBC1D3P5 440419 broad.mit.edu 37 17 25753103 25753103 + RNA DEL C C - TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr17:25753103delC ENST00000586223.1 + 0 1495 NR_033892.1 CCCTGCAGTGCCCTGCTTCCC 0.632 2 4 --- --- --- --- FAM182A 284800 broad.mit.edu 37 20 26057657 26057657 + RNA DEL A A - rs144848982 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:26057657delA ENST00000376398.2 + 0 819 NR_026713.1 breast(1)|endometrium(2)|kidney(1) 4 gaaaatacagaaaaaaaatct 0.299 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29587354 29587355 + RNA INS - - T TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:29587354_29587355insT ENST00000432067.1 - 0 152 gtaccacagtgtttttctttct 0.391 2 4 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57173223 57173226 + RNA DEL TTCA TTCA - rs75429445 byFrequency TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr20:57173223_57173226delTTCA ENST00000427140.1 + 0 943 RP5-907D15.3_ENST00000525424.1_lincRNA NR_034147.1 cattctttccttcattcattcatt 0.402 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11037537 11037537 + RNA DEL T T - rs61364433 by1000genomes TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:11037537delT ENST00000470054.1 - 0 1476 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) AAACAAAAAATACTTACTGGA 0.274 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11061894 11061894 + RNA DEL G G - rs56157850 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:11061894delG 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) TAAAGGAAAAGTTATGTATAT 0.318 6 8 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11066282 11066286 + RNA DEL TTACT TTACT - rs66697625 TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55739de1-23f4-4adb-b810-25b24fa7a84c 15b25f50-b0e7-4bd8-9179-879b71046b1b g.chr21:11066282_11066286delTTACT 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) aacaaaGAAATTACTTTATtcccat 0.371 4 3 --- --- --- ---