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 GSG1L 146395 broad.mit.edu 37 16 27974490 27974490 + Silent SNP C C T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr16:27974490C>T ENST00000447459.2 - 2 468 c.384G>A c.(382-384)ccG>ccA p.P128P GSG1L_ENST00000380898.2_5'UTR|GSG1L_ENST00000395724.3_Silent_p.P128P NM_001109763.1 NP_001103233.1 Q6UXU4 GSG1L_HUMAN GSG1-like 128 integral to membrane p.P128P(1) endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 TCTCCGATGCCGGGGCCAGGT 0.542000 8 17 0 0 2.17888e-05 0 0 NBPF9 400818 broad.mit.edu 37 1 144815953 144815953 + Missense_Mutation SNP A A G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:144815953A>G ENST00000440491.2 + 4 550 c.550A>G c.(550-552)Aat>Gat p.N184D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000281815.8_5'UTR NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 p.N184D(2) NS(2)|prostate(1) 3 CAACGATGACAATGAAGATGT 0.423000 15 72 0 0 2.31682e-05 0 0 SOHLH1 402381 broad.mit.edu 37 9 138590185 138590185 + Missense_Mutation SNP T T A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:138590185T>A ENST00000298466.5 - 3 395 c.335A>T c.(334-336)gAg>gTg p.E112V SOHLH1_ENST00000425225.1_Missense_Mutation_p.E112V NM_001012415.2 NP_001012415.2 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 1 112 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1) 12 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) AGCGTGCTGCTCCTGACTGGG 0.642000 27 32 0 0 0.000227799 0 0 SNW1 22938 broad.mit.edu 37 14 78187103 78187103 + Missense_Mutation SNP C C A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr14:78187103C>A ENST00000261531.7 - 12 1261 c.1199G>T c.(1198-1200)cGg>cTg p.R400L SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_3'UTR|SNW1_ENST00000554775.1_Missense_Mutation_p.R238L|SNW1_ENST00000555761.1_Missense_Mutation_p.R400L NM_012245.2 NP_036377.1 Q13573 SNW1_HUMAN SNW domain containing 1 400 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ATTGGAAGTCCGAGGATTAGG 0.388000 36 53 2.75727e-19 1.39198e-17 0.000159656 1 0 DNAH9 1770 broad.mit.edu 37 17 11554609 11554609 + Missense_Mutation SNP C C T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr17:11554609C>T ENST00000262442.3 + 13 2389 c.2321C>T c.(2320-2322)gCa>gTa p.A774V DNAH9_ENST00000454412.2_Missense_Mutation_p.A774V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 774 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CGCCTCAGAGCAGCAGAGGAG 0.423000 12 32 0 0 6.40141e-05 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183406 11183406 + Missense_Mutation SNP C C T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr12:11183406C>T ENST00000390675.2 - 1 600 c.529G>A c.(529-531)Gcg>Acg p.A177T PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 177 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GTTACAGTCGCATCTGAAAGG 0.393000 6 58 0 0 2.17888e-05 0 0 SCAP 22937 broad.mit.edu 37 3 47462468 47462468 + Missense_Mutation SNP T T C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr3:47462468T>C ENST00000265565.5 - 11 1709 c.1297A>G c.(1297-1299)Atg>Gtg p.M433V SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000545718.1_Missense_Mutation_p.M41V|SCAP_ENST00000441517.2_Missense_Mutation_p.M178V NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 433 SSD. cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AAAAACAGCATCTGAAGGAAG 0.592000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 32 0 0 0.000147903 0 0 MED22 6837 broad.mit.edu 37 9 136210997 136210997 + Silent SNP C C T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:136210997C>T ENST00000491289.1 - 4 977 c.396G>A c.(394-396)gaG>gaA p.E132E MED22_ENST00000371999.1_Silent_p.E126E|MED22_ENST00000344469.5_Silent_p.E132E|MED22_ENST00000343730.5_Silent_p.E132E|MED22_ENST00000486395.1_Silent_p.E132E|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Silent_p.E132E Q15528 MED22_HUMAN mediator complex subunit 22 132 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) AGTAATACTCCTCCTCCAGCT 0.607000 24 24 0 0 9.22233e-05 0 0 MAP3K6 9064 broad.mit.edu 37 1 27688678 27688678 + Missense_Mutation SNP T T A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:27688678T>A ENST00000493901.1 - 10 1558 c.1319A>T c.(1318-1320)gAt>gTt p.D440V MAP3K6_ENST00000357582.2_Missense_Mutation_p.D440V|MAP3K6_ENST00000374040.3_Missense_Mutation_p.D432V NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 440 MQYYWD -> ALWVPV (in Ref. 3; AAI29952).|MQYYWD -> HTWVPV (in Ref. 3; AAI29951). activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GAAACCCACATCCCAGTAATA 0.597000 13 8 0 0 0.000151284 0 0 IGF1R 3480 broad.mit.edu 37 15 99440126 99440126 + Missense_Mutation SNP G G C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr15:99440126G>C ENST00000268035.6 + 4 1705 c.1094G>C c.(1093-1095)cGa>cCa p.R365P IGF1R_ENST00000558762.1_Missense_Mutation_p.R365P NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 365 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ATTAACATCCGACGGGGGAGT 0.443000 15 31 0 0 7.07596e-05 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877888 76877888 + Missense_Mutation SNP C C G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:76877888C>G ENST00000328299.3 + 3 557 c.409C>G c.(409-411)Cta>Gta p.L137V ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 137 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TCCTCTTTTGCTAAAAAACCC 0.418000 17 16 0 0 5.01169e-05 0 0 SORCS3 22986 broad.mit.edu 37 10 107006985 107006985 + Missense_Mutation SNP C C A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr10:107006985C>A ENST00000369701.3 + 22 3228 c.3001C>A c.(3001-3003)Cag>Aag p.Q1001K SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1001 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGAATATTTCCAGTCCCAGCT 0.468000 5 0 3.59834e-05 0.00165629 3.59834e-05 1 0 CCDC160 347475 broad.mit.edu 37 X 133379086 133379086 + Missense_Mutation SNP A A G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chrX:133379086A>G ENST00000517294.1 + 3 639 c.256A>G c.(256-258)Att>Gtt p.I86V CCDC160_ENST00000370809.4_Missense_Mutation_p.I86V A6NGH7 CC160_HUMAN coiled-coil domain containing 160 86 endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 CAAGAGAAACATTTCAAAGAA 0.294000 7 1 0 0 8.12818e-05 0 0 TRIM38 10475 broad.mit.edu 37 6 25983718 25983718 + Missense_Mutation SNP A A G rs139300929 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr6:25983718A>G ENST00000357085.3 + 8 1677 c.1201A>G c.(1201-1203)Act>Gct p.T401A TRIM38_ENST00000349458.3_Missense_Mutation_p.T401A NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 401 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 TTCTCCCCCAACTTCCCTTCA 0.507000 22 57 0 0 9.22233e-05 0 0 SLC6A13 6540 broad.mit.edu 37 12 330229 330229 + Missense_Mutation SNP C C T rs141229734 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr12:330229C>T ENST00000343164.4 - 15 1746 c.1694G>A c.(1693-1695)cGt>cAt p.R565H SLC6A13_ENST00000445055.2_Missense_Mutation_p.R473H NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 565 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CATGAGCTGACGGATTCTCTG 0.652000 8 17 0 0 2.17888e-05 0 0 DHX38 9785 broad.mit.edu 37 16 72130255 72130255 + Missense_Mutation SNP G G A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr16:72130255G>A ENST00000268482.3 + 2 708 c.199G>A c.(199-201)Gat>Aat p.D67N DHX38_ENST00000536867.1_Missense_Mutation_p.D67N NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 67 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GGAGAAGGACGATGGGGAGGA 0.572000 16 2 0 0 3.45872e-05 0 0 DPYSL5 56896 broad.mit.edu 37 2 27157527 27157527 + Missense_Mutation SNP C C T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr2:27157527C>T ENST00000288699.6 + 8 1030 c.872C>T c.(871-873)gCg>gTg p.A291V DPYSL5_ENST00000401478.1_Missense_Mutation_p.A291V NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 291 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGTCCCACGCGGCTGCCTAT 0.582000 51 66 0 0 0.000147903 0 0 PCNX 22990 broad.mit.edu 37 14 71540341 71540341 + Silent SNP T T C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr14:71540341T>C ENST00000304743.2 + 27 5378 c.4932T>C c.(4930-4932)ccT>ccC p.P1644P PCNX_ENST00000238570.5_Silent_p.P1572P|PCNX_ENST00000439984.3_Silent_p.P1533P NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1644 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTTGTGAACCTGGCCATATTC 0.453000 24 39 0 0 9.22233e-05 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 51 0 0 1.12685e-05 0 0 PTEN 5728 broad.mit.edu 37 10 89717727 89717727 + Missense_Mutation SNP G G T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr10:89717727G>T ENST00000371953.3 + 7 2109 c.752G>T c.(751-753)gGt>gTt p.G251V PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 251 C2 tensin-type. G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.G251V(1)|p.G251fs*6(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CCTGTGTGTGGTGATATCAAA 0.398000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 17 1 1.01871e-10 4.98214e-09 0.000132079 1 0 MKL2 57496 broad.mit.edu 37 16 14334345 14334345 + Nonsense_Mutation SNP C C A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr16:14334345C>A ENST00000572567.1 + 8 1248 c.1050C>A c.(1048-1050)taC>taA p.Y350* MKL2_ENST00000573051.1_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Intron|MKL2_ENST00000341243.5_Intron Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 0 P -> A (in Ref. 1; AAQ82435). cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CATTCAAGTACGGCGGGGCCC 0.493000 15 21 3.41278e-10 1.61849e-08 5.01169e-05 1 0 FMNL1 752 broad.mit.edu 37 17 43309817 43309817 + Silent SNP G G A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr17:43309817G>A ENST00000331495.3 + 3 633 c.297G>A c.(295-297)aaG>aaA p.K99K FMNL1_ENST00000328118.3_Silent_p.K99K|FMNL1_ENST00000592006.1_3'UTR NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 99 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 TCAGCCGAAAGGTAGCAGCTG 0.542000 10 16 0 0 6.40141e-05 0 0 ZFX 7543 broad.mit.edu 37 X 24229387 24229387 + Missense_Mutation SNP C C G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chrX:24229387C>G ENST00000379177.1 + 11 2739 c.2312C>G c.(2311-2313)aCg>aGg p.T771R ZFX_ENST00000539115.1_Missense_Mutation_p.T542R|ZFX_ENST00000540034.1_Missense_Mutation_p.T810R|ZFX_ENST00000379188.3_Missense_Mutation_p.T771R|ZFX_ENST00000338565.3_Missense_Mutation_p.T721R|ZFX_ENST00000304543.5_Missense_Mutation_p.T771R NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 771 T -> R (in Ref. 5). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 TCCATTCACACGAAAGACTAT 0.453000 34 4 0 0 0.000132358 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651241 1651241 + Silent SNP A A C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr11:1651241A>C ENST00000399676.2 + 1 209 c.171A>C c.(169-171)ggA>ggC p.G57G NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 57 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) gctgtgggggatgtggctccg 0.682000 4 57 0 0 3.59834e-05 0 0 DNM1 1759 broad.mit.edu 37 9 130965819 130965819 + Missense_Mutation SNP G G A TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:130965819G>A ENST00000341179.7 + 1 162 c.70G>A c.(70-72)Ggc>Agc p.G24S CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000393608.1_Intron|DNM1_ENST00000486160.1_Missense_Mutation_p.G24S|DNM1_ENST00000393594.3_Missense_Mutation_p.G24S|DNM1_ENST00000372923.3_Missense_Mutation_p.G24S|DNM1_ENST00000475805.1_Missense_Mutation_p.G24S NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 24 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 CTCTGCCATCGGCCAGAACGC 0.682000 9 11 0 0 3.86212e-05 0 0 NRK 203447 broad.mit.edu 37 X 105178259 105178259 + Missense_Mutation SNP G G C TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chrX:105178259G>C ENST00000428173.2 + 20 3628 c.3325G>C c.(3325-3327)Ggt>Cgt p.G1109R NRK_ENST00000243300.9_Missense_Mutation_p.G1108R Q7Z2Y5 NRK_HUMAN Nik related kinase 1108 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGAGCCAGGTGGTGGAAATGA 0.418000 HNSCC(51;0.14) 3 23 0 0 1.23904e-05 0 0 NCOA3 8202 broad.mit.edu 37 20 46262905 46262905 + Missense_Mutation SNP C C G TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr20:46262905C>G ENST00000372004.3 + 10 1294 c.1078C>G c.(1078-1080)Cga>Gga p.R360G NCOA3_ENST00000371997.3_Missense_Mutation_p.R370G|NCOA3_ENST00000371998.3_Missense_Mutation_p.R360G|NCOA3_ENST00000341724.6_Missense_Mutation_p.R370G NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 360 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AACAAATGATCGACATGGCTT 0.388000 31 50 0 0 0.000159656 0 0 KMT2C 58508 broad.mit.edu 37 7 151891141 151891141 + Nonsense_Mutation SNP A A T TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr7:151891141A>T ENST00000355193.2 - 31 4831 c.4613T>A c.(4612-4614)tTg>tAg p.L1538* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L1538* lysine (K)-specific methyltransferase 2C AGGCTGTGGCAATGGAGTTGG 0.393000 22 0 0 0 7.16444e-05 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 166 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 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 AGTAGATTGTTATTTCGTTTTT 0.416 4 6 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152276467 152276468 + In_Frame_Ins INS - - GGA TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:152276467_152276468insGGA ENST00000368799.1 - 3 10929_10930 c.10894_10895insTCC c.(10894-10896)gtc>TCCgtc p.3631_3632insS FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3631 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) GTCTGCTGACTGCTGGTGGTGG 0.554 Ichthyosis 8 643 --- --- --- --- ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG CTGCCGCTG - rs11278152 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr1:226924876_226924884delCTGCCGCTG ENST00000429204.1 - 2 603_611 c.276_284delCAGCGGCAG c.(274-285)agt>ag p.SSGS92del ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 92 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.746 8 23 --- --- --- --- KALRN 8997 broad.mit.edu 37 3 123953675 123953675 + Splice_Site DEL G G - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr3:123953675delG ENST00000360013.3 + 3 269 c.e3-1 KALRN_ENST00000460856.1_Splice_Site|KALRN_ENST00000240874.3_Splice_Site NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTTCTTGCAGGGGGTCGTGA 0.488 2 4 --- --- --- --- PBX2P1 5088 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 19 14 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 2 4 --- --- --- --- PURA 5813 broad.mit.edu 37 5 139494456 139494458 + In_Frame_Del DEL CTT CTT - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr5:139494456_139494458delCTT ENST00000331327.3 + 1 749_751 c.690_692delCTT c.(688-693)cgc>cg p.RF230del NM_005859.4 NP_005850.1 Q00577 PURA_HUMAN purine-rich element binding protein A 230 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACAAGCGCTTCTTCTTCGAT 0.596 21 4 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970503 43970504 + In_Frame_Ins INS - - GCG rs72369323 TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr6:43970503_43970504insGCG ENST00000336600.5 + 4 389_390 c.369_370insGCG c.(367-372)cgcggc>cgGCGcggc p.123_124insR RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 123 central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGTAGAGCGCgcggcggcggc 0.777 4 8 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 3 4 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 8 313 --- --- --- --- ASF1B 55723 broad.mit.edu 37 19 14232424 14232424 + Frame_Shift_Del DEL G G - TCGA-EE-A17Z-06A-11D-A196-08 TCGA-EE-A17Z-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f421d6c-acb9-470b-b315-a1f1375a4d1c 0f5f5be4-90e5-4ed4-abd6-595b4fe4806e g.chr19:14232424delG ENST00000263382.3 - 3 821 c.322delC c.(322-324)gafs p.R108fs ASF1B_ENST00000592798.1_Intron|ASF1B_ENST00000474890.1_Frame_Shift_Del_p.R108fs NM_018154.2 NP_060624.1 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B histone chaperone 108 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 TAGCCCACTCGGATGAACTCC 0.587 22 35 --- --- --- ---