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 MR1 3140 broad.mit.edu 37 1 181018211 181018211 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:181018211C>T ENST00000367580.5 + 2 96 c.91C>T c.(91-93)Cgc>Tgc p.R31C MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.R31C|MR1_ENST00000282990.6_Missense_Mutation_p.R31C|MR1_ENST00000367579.3_Missense_Mutation_p.R31C NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 31 Alpha-1.|Ligand-binding. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 GAGATATTTTCGCCTGGGCGT 0.512000 4 53 0 0 0.217242 0 0 NPNT 255743 broad.mit.edu 37 4 106888393 106888393 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:106888393C>T ENST00000379987.2 + 11 1610 c.1394C>T c.(1393-1395)gCt>gTt p.A465V NPNT_ENST00000305572.8_Missense_Mutation_p.A436V|NPNT_ENST00000514622.1_Missense_Mutation_p.A436V|NPNT_ENST00000506666.1_Missense_Mutation_p.A466V|NPNT_ENST00000453617.2_Missense_Mutation_p.A482V|NPNT_ENST00000427316.2_Missense_Mutation_p.A495V NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 465 MAM. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) GGGGGAAAAGCTGCACGCTTG 0.567000 19 18 0 0 0.189662 0 0 OR52R1 119695 broad.mit.edu 37 11 4824735 4824735 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:4824735G>A ENST00000380382.1 - 1 1112 c.1113C>T c.(1111-1113)ccC>ccT p.P371P MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Silent_p.P292P Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CATAAATGATGGGGTTGAGCA 0.468000 109 112 0 0 0.139131 0 0 CES5A 221223 broad.mit.edu 37 16 55895372 55895372 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:55895372C>T ENST00000521992.1 - 8 1099 c.954G>A c.(952-954)ctG>ctA p.L318L CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.L289L|CES5A_ENST00000290567.9_Silent_p.L289L|CES5A_ENST00000520435.1_Silent_p.L259L|CES5A_ENST00000518005.1_Silent_p.L183L NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 289 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TCAGGCACCTCAGCAGGGCCT 0.552000 9 109 0 0 0.058154 0 0 RYR2 6262 broad.mit.edu 37 1 237947067 237947067 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:237947067A>T ENST00000366574.2 + 90 12372 c.12055A>T c.(12055-12057)Atg>Ttg p.M4019L RYR2_ENST00000542537.1_Missense_Mutation_p.M4003L|RYR2_ENST00000360064.6_Missense_Mutation_p.M4025L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4019 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) ATTTTTTGACATGTTCTTAAA 0.403000 6 57 0 0 0.029380 0 0 ZNF275 10838 broad.mit.edu 37 X 152610221 152610221 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:152610221G>A ENST00000440091.1 + 2 102 c.102G>A c.(100-102)ggG>ggA p.G34G ZNF275_ENST00000370251.2_Intron|ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000421401.3_Intron A6NFS0 A6NFS0_HUMAN zinc finger protein 275 0 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AATATTATGGGAACGTGACCT 0.522000 14 80 0 0 0.132662 0 0 BAI1 575 broad.mit.edu 37 8 143561102 143561102 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:143561102A>T ENST00000517894.1 + 9 2669 c.1775A>T c.(1774-1776)aAg>aTg p.K592M BAI1_ENST00000323289.5_Missense_Mutation_p.K592M O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 592 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGATCTGGAAGGAGACCCCA 0.642000 15 34 0 0 0.219247 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559700 140559700 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:140559700G>T ENST00000239444.2 + 1 2330 c.2085G>T c.(2083-2085)ttG>ttT p.L695F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 695 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTGGCGTTGGCCTCGGTGT 0.677000 39 47 7.05121e-23 1.06688e-22 0.117977 1 0 VASH1 22846 broad.mit.edu 37 14 77236310 77236310 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:77236310C>T ENST00000167106.4 + 2 947 c.314C>T c.(313-315)cCc>cTc p.P105L VASH1_ENST00000554237.1_Missense_Mutation_p.P105L|VASH1_ENST00000556038.1_3'UTR NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 105 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CCCCAGATCCCCATACCGAGT 0.597000 20 17 0 0 0.069288 0 0 FAM135B 51059 broad.mit.edu 37 8 139277996 139277996 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:139277996T>A ENST00000395297.1 - 4 417 c.247A>T c.(247-249)Ata>Tta p.I83L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 83 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATCATTTATGGGTACCTCT 0.493000 HNSCC(54;0.14) 39 57 0 0 0.098360 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464978 5464978 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:5464978G>T ENST00000296564.7 + 13 5753 c.5531G>T c.(5530-5532)aGt>aTt p.S1844I NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1844 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 ACACTGAGAAGTGCTAAAAGA 0.522000 9 52 5.16669e-11 6.74253e-11 0.080935 1 0 HSPA12A 259217 broad.mit.edu 37 10 118434798 118434798 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:118434798G>T ENST00000369209.3 - 12 1626 c.1522C>A c.(1522-1524)Cag>Aag p.Q508K NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 508 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CCCACGTCCTGGGGGATGATG 0.667000 8 4 5.18039e-06 5.89143e-06 0.038147 1 0 PHKA1 5255 broad.mit.edu 37 X 71840577 71840577 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:71840577T>A ENST00000339490.3 - 19 2435 c.2135A>T c.(2134-2136)cAg>cTg p.Q712L PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.Q712L|PHKA1_ENST00000373542.4_Missense_Mutation_p.Q712L|PHKA1_ENST00000373545.3_Intron NM_001122670.1 NP_001116142.1 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 712 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TTACTCACTCTGTACATGCAG 0.512000 14 31 0 0 0.105934 0 0 METAP1D 254042 broad.mit.edu 37 2 172945095 172945095 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:172945095G>T ENST00000315796.4 + 10 1356 c.969G>T c.(967-969)agG>agT p.R323S METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 323 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TCACGTCGAGGGGCGCGCAGA 0.607000 36 55 8.16904e-11 1.0634e-10 0.098360 1 0 SERPINB5 5268 broad.mit.edu 37 18 61154283 61154283 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:61154283G>T ENST00000382771.4 + 3 565 c.273G>T c.(271-273)cgG>cgT p.R91R SERPINB5_ENST00000489441.1_Silent_p.R91R NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 91 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 TAATCAAGCGGCTCTACGTAG 0.343000 8 7 5.18039e-06 5.89143e-06 0.038147 1 0 FAM188B 84182 broad.mit.edu 37 7 30915112 30915112 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:30915112A>G ENST00000265299.6 + 15 1889 c.1812A>G c.(1810-1812)gaA>gaG p.E604E AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Silent_p.E67E NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 604 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCTGCAGGAACTTGTCAATC 0.478000 11 274 0 0 0.069234 0 0 CCDC115 84317 broad.mit.edu 37 2 131098596 131098596 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:131098596C>G ENST00000259229.2 - 4 538 c.315G>C c.(313-315)aaG>aaC p.K105N CCDC115_ENST00000437688.2_Missense_Mutation_p.K100N|CCDC115_ENST00000409127.1_Missense_Mutation_p.K100N NM_032357.2 NP_115733.2 Q96NT0 CC115_HUMAN coiled-coil domain containing 115 105 endosome|lysosome p.K105N(1) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 7 Colorectal(110;0.1) TAGTGGGGCCCTTGCGCCTCC 0.552000 4 11 0 0 0.184627 0 0 LINC00923 91948 broad.mit.edu 37 15 98417282 98417282 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:98417282C>G ENST00000503874.3 - 1 498 c.234G>C c.(232-234)aaG>aaC p.K78N CGAACTGCCTCTTGCCAATTT 0.493000 3 4 0 0 0.150653 0 0 STS 412 broad.mit.edu 37 X 7243484 7243484 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:7243484A>T ENST00000217961.4 + 8 1421 c.1201A>T c.(1201-1203)Atg>Ttg p.M401L NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 401 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CACTAGCAACATGGACATATT 0.522000 Ichthyosis 5 92 0 0 0.029380 0 0 FBN2 2201 broad.mit.edu 37 5 127697428 127697428 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:127697428C>A ENST00000508053.1 - 25 3516 c.2542G>T c.(2542-2544)Gag>Tag p.E848* FBN2_ENST00000262464.4_Nonsense_Mutation_p.E848*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.E815* P35556 FBN2_HUMAN fibrillin 2 848 EGF-like 12; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCACAGGTCTCTGTCTCAGTC 0.443000 29 74 3.65163e-15 5.13787e-15 0.116897 1 0 CASS4 57091 broad.mit.edu 37 20 55012273 55012273 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:55012273G>T ENST00000371336.3 + 2 291 c.90G>T c.(88-90)ctG>ctT p.L30L CASS4_ENST00000434344.1_Silent_p.L30L|CASS4_ENST00000360314.3_Silent_p.L30L NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 30 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CTGACGAGCTGGCTTTCAGCA 0.587000 48 196 1.46357e-32 2.28055e-32 0.139131 1 0 TRPS1 7227 broad.mit.edu 37 8 116616277 116616277 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:116616277T>A ENST00000395715.3 - 4 2496 c.1919A>T c.(1918-1920)gAt>gTt p.D640V TRPS1_ENST00000220888.5_Missense_Mutation_p.D627V|TRPS1_ENST00000519674.1_Missense_Mutation_p.D627V|TRPS1_ENST00000519076.1_Splice_Site_p.D381_splice|TRPS1_ENST00000520276.1_Missense_Mutation_p.D631V NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 627 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAGGAGTACATCTACGTCAGG 0.517000 Langer-Giedion syndrome 17 63 0 0 0.146539 0 0 DNAH9 1770 broad.mit.edu 37 17 11622753 11622753 + Silent SNP C C G rs111713622 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:11622753C>G ENST00000262442.3 + 27 5723 c.5655C>G c.(5653-5655)cgC>cgG p.R1885R DNAH9_ENST00000454412.2_Silent_p.R1885R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1885 AAA 1 (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) ACCTGGGCCGCGCACTGGGCA 0.622000 10 61 0 0 0.058154 0 0 UBR2 23304 broad.mit.edu 37 6 42626495 42626495 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:42626495G>A ENST00000372899.1 + 29 3433 c.3175G>A c.(3175-3177)Gaa>Aaa p.E1059K UBR2_ENST00000372883.3_Missense_Mutation_p.M566I|UBR2_ENST00000372901.1_Missense_Mutation_p.E1059K NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1059 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) TTTTATTGATGAAAACAAAGA 0.378000 4 47 0 0 0.150653 0 0 TLR8 51311 broad.mit.edu 37 X 12940114 12940114 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:12940114G>A ENST00000218032.6 + 2 3042 c.2955G>A c.(2953-2955)caG>caA p.Q985Q TLR8_ENST00000311912.5_Silent_p.Q1003Q NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 985 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CAGTGTTACAGCATTCTCAGT 0.458000 18 42 0 0 0.099896 0 0 PPIF 10105 broad.mit.edu 37 10 81111255 81111255 + Missense_Mutation SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:81111255A>C ENST00000225174.3 + 4 399 c.328A>C c.(328-330)Acc>Ccc p.T110P PPIF_ENST00000394579.3_Missense_Mutation_p.T110P NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 110 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) GGGCGACTTCACCAACCACAA 0.637000 3 6 0 0 0.150653 0 0 FAM45B 55855 broad.mit.edu 37 X 129629472 129629472 + RNA SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:129629472C>G ENST00000458525.1 - 0 1015 FAM45B_ENST00000592932.1_RNA TAGAATGTACCTGAAACATGG 0.403000 46 182 0 0 0.139131 0 0 OR1L6 392390 broad.mit.edu 37 9 125512600 125512600 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:125512600G>A ENST00000373684.1 + 1 582 c.582G>A c.(580-582)ctG>ctA p.L194L OR1L6_ENST00000304720.2_Silent_p.L158L Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 TACATTCCCTGTTCCGCGTGC 0.498000 39 97 0 0 0.139131 0 0 PRMT2 3275 broad.mit.edu 37 21 48071791 48071791 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:48071791G>T ENST00000334494.4 + 7 895 c.728G>T c.(727-729)tGc>tTc p.C243F PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000397637.1_Intron|PRMT2_ENST00000397638.2_Intron NM_001242865.1 NP_001229794.1 P55345 ANM2_HUMAN protein arginine methyltransferase 2 0 Interaction with ESR1. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) CTCCTGGCCTGCTGTCTGCCT 0.632000 74 108 2.72187e-29 4.21607e-29 0.139131 1 0 MUT 4594 broad.mit.edu 37 6 49426988 49426988 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:49426988C>A ENST00000274813.3 - 2 319 c.192G>T c.(190-192)ccG>ccT p.P64P NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 64 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGATCCCTTCCGGGGTGTGCC 0.483000 25 31 3.6726e-16 5.26675e-16 0.091800 1 0 PREX1 57580 broad.mit.edu 37 20 47269937 47269937 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:47269937G>T ENST00000396220.1 - 20 2330 c.2308C>A c.(2308-2310)Cac>Aac p.H770N PREX1_ENST00000371941.3_Missense_Mutation_p.H770N Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 770 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCTGGAAGTGCTCCAGGACC 0.602000 8 114 3.09899e-07 3.69331e-07 0.047766 1 0 SLC16A14 151473 broad.mit.edu 37 2 230910766 230910766 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:230910766A>G ENST00000295190.4 - 4 1534 c.1076T>C c.(1075-1077)aTa>aCa p.I359T NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 359 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) AACTATTGCTATAATTGACGT 0.443000 3 55 0 0 0.115264 0 0 CCDC57 284001 broad.mit.edu 37 17 80130706 80130706 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:80130706T>C ENST00000389641.4 - 11 1573 c.1537A>G c.(1537-1539)Agt>Ggt p.S513G CCDC57_ENST00000392343.3_Missense_Mutation_p.S513G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.S513G Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 513 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) AAGTCTTTACTTATTTCTTCT 0.478000 5 21 0 0 0.217242 0 0 TTN 7273 broad.mit.edu 37 2 179612314 179612314 + Missense_Mutation SNP A A G rs140786524 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:179612314A>G ENST00000360870.5 - 46 15035 c.14813T>C c.(14812-14814)aTg>aCg p.M4938T TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1065 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) TTCCACCTCCATTGAAGTGAT 0.423000 28 94 0 0 0.125774 0 0 OR52D1 390066 broad.mit.edu 37 11 5510137 5510137 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:5510137C>A ENST00000322641.5 + 1 223 c.201C>A c.(199-201)tgC>tgA p.C67* HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCCTCTGCCTTCTCTCAC 0.512000 32 92 1.08312e-15 1.54057e-15 0.144211 1 0 BMP2K 55589 broad.mit.edu 37 4 79766106 79766106 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:79766106G>A ENST00000335016.5 + 5 737 c.571G>A c.(571-573)Ggt>Agt p.G191S BMP2K_ENST00000502871.1_Missense_Mutation_p.G191S NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 191 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 GTTGAATGATGGTGGGAACTA 0.269000 6 31 0 0 0.038147 0 0 NEBL 10529 broad.mit.edu 37 10 21120401 21120401 + Splice_Site SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:21120401C>A ENST00000377122.4 - 15 1957 c.e15+1 NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTGTCTTACCTGGCTGGCC 0.433000 28 80 2.05212e-20 3.06936e-20 0.225048 1 0 EPHB2 2048 broad.mit.edu 37 1 23239019 23239019 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:23239019A>G ENST00000400191.3 + 15 2797 c.2779A>G c.(2779-2781)Atg>Gtg p.M927V EPHB2_ENST00000374627.1_Missense_Mutation_p.M922V|EPHB2_ENST00000374630.3_Missense_Mutation_p.M927V|EPHB2_ENST00000374632.3_Missense_Mutation_p.M928V NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 927 SAM. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGCCATCAAGATGGGGCAGTA 0.592000 6 48 0 0 0.029380 0 0 ABCA1 19 broad.mit.edu 37 9 107560864 107560864 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:107560864C>A ENST00000374736.3 - 37 5353 c.4959G>T c.(4957-4959)gtG>gtT p.V1653V NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1653 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAAGGACATCCACTGATGTGG 0.493000 31 70 8.16721e-17 1.18096e-16 0.153744 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117365197 117365197 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:117365197G>A ENST00000160373.3 - 18 4261 c.4170C>T c.(4168-4170)caC>caT p.H1390H NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1390 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CTTGGCTAGGGTGTCTTTTAG 0.512000 10 225 0 0 0.069234 0 0 KIF1C 10749 broad.mit.edu 37 17 4927272 4927272 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:4927272A>G ENST00000320785.5 + 23 3495 c.3138A>G c.(3136-3138)gcA>gcG p.A1046A NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 1046 Pro-rich. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CGGGTTCTGCACAGCCTGAAC 0.701000 17 25 0 0 0.160694 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807817 15807817 + Silent SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:15807817C>G ENST00000550308.1 + 13 1877 c.1497C>G c.(1495-1497)cgC>cgG p.R499R CYP4F12_ENST00000324632.9_Silent_p.R499R NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTGAGCCCCGCAGGAAGCTGG 0.607000 8 71 0 0 0.080935 0 0 OR51F2 119694 broad.mit.edu 37 11 4843075 4843075 + Nonsense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:4843075C>T ENST00000322110.5 + 1 525 c.460C>T c.(460-462)Cga>Tga p.R154* MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TACCAATGCCCGAATTGCCAA 0.458000 35 392 0 0 0.193644 0 0 REST 5978 broad.mit.edu 37 4 57797251 57797251 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:57797251G>A ENST00000309042.7 + 4 2541 c.2227G>A c.(2227-2229)Gag>Aag p.E743K NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 743 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) GGTCCAGAAGGAGCCTGTTCA 0.557000 27 269 0 0 0.144211 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359070 64359070 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:64359070C>A ENST00000377574.1 + 1 789 c.42C>A c.(40-42)ggC>ggA p.G14G SLC22A12_ENST00000377567.2_Silent_p.G14G|SLC22A12_ENST00000336464.7_Silent_p.G14G|SLC22A12_ENST00000377572.1_Silent_p.G14G|SLC22A12_ENST00000473690.1_Intron NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 14 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GTGGCCTGGGCAGGTTCCAGG 0.607000 21 34 7.92952e-12 1.05323e-11 0.091800 1 0 IGF2R 3482 broad.mit.edu 37 6 160485482 160485482 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:160485482C>T ENST00000356956.1 + 28 4084 c.3936C>T c.(3934-3936)aaC>aaT p.N1312N NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1312 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TAAAAATGAACTTCACGGGGG 0.502000 6 170 0 0 0.038147 0 0 CENPF 1063 broad.mit.edu 37 1 214819597 214819597 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:214819597A>G ENST00000366955.3 + 13 6852 c.6684A>G c.(6682-6684)gaA>gaG p.E2228E NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2324 2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGTTGTCAGAACTAGACAAGT 0.358000 32 244 0 0 0.153744 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458165 53458165 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:53458165C>A ENST00000331173.4 - 1 1190 c.1145G>T c.(1144-1146)gGa>gTa p.G382V PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 382 Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) TAATGGCCCTCCCCTCATCTC 0.557000 17 61 2.35188e-11 3.10806e-11 0.175082 1 0 CXorf64 100130613 broad.mit.edu 37 X 125955322 125955322 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:125955322G>C ENST00000371125.3 + 2 781 c.701G>C c.(700-702)aGt>aCt p.S234T NM_001122716.1 NP_001116188.1 B1ATL7 CX064_HUMAN chromosome X open reading frame 64 234 Pro-rich. TTGTCTTCCAGTACTCCAGGT 0.502000 19 30 0 0 0.189662 0 0 DIEXF 27042 broad.mit.edu 37 1 210010463 210010463 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:210010463C>A ENST00000491415.2 + 6 1026 c.969C>A c.(967-969)gcC>gcA p.A323A NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 323 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 AAGCCAATGCCCAGGTGCTTG 0.517000 38 80 2.19489e-29 3.40991e-29 0.235728 1 0 KALRN 8997 broad.mit.edu 37 3 123946896 123946896 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:123946896G>T ENST00000360013.3 + 2 254 c.127G>T c.(127-129)Gtg>Ttg p.V43L KALRN_ENST00000460856.1_Missense_Mutation_p.V43L|KALRN_ENST00000240874.3_Missense_Mutation_p.V43L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 43 CRAL-TRIO. 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 AAAGGAAAAGGTGGCCTTCGT 0.448000 87 133 7.62712e-44 1.1992e-43 0.139131 1 0 DLGAP2 9228 broad.mit.edu 37 8 1624761 1624761 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:1624761G>T ENST00000421627.2 + 8 2159 c.2025G>T c.(2023-2025)ggG>ggT p.G675G NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 754 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ACTCTGTCGGGGTGCAAGTGG 0.542000 4 7 0.00116845 0.00123218 0.217242 1 0 EEF1D 1936 broad.mit.edu 37 8 144668960 144668960 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:144668960T>C ENST00000532741.1 - 2 1532 c.1304A>G c.(1303-1305)gAc>gGc p.D435G EEF1D_ENST00000529272.1_Missense_Mutation_p.D19G|EEF1D_ENST00000531621.1_Missense_Mutation_p.D19G|EEF1D_ENST00000526838.1_Missense_Mutation_p.D19G|EEF1D_ENST00000423316.2_Missense_Mutation_p.D385G|EEF1D_ENST00000419152.2_Missense_Mutation_p.D19G|EEF1D_ENST00000395119.3_Missense_Mutation_p.D19G|EEF1D_ENST00000532400.1_Missense_Mutation_p.D19G|EEF1D_ENST00000528610.1_Missense_Mutation_p.D19G|EEF1D_ENST00000317198.6_Missense_Mutation_p.D19G|EEF1D_ENST00000442189.2_Missense_Mutation_p.D385G|EEF1D_ENST00000524624.1_Missense_Mutation_p.D19G P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 19 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TTCTGCGTCGTCATATTTGAA 0.562000 5 63 0 0 0.038147 0 0 RUSC2 9853 broad.mit.edu 37 9 35547523 35547523 + Nonsense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:35547523T>A ENST00000455600.1 + 2 1574 c.1005T>A c.(1003-1005)taT>taA p.Y335* NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 335 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AGATGTCTTATGAGTCCCATC 0.567000 8 52 0 0 0.038147 0 0 CHD6 84181 broad.mit.edu 37 20 40050438 40050438 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:40050438T>C ENST00000373233.3 - 31 5014 c.4837A>G c.(4837-4839)Aga>Gga p.R1613G NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1613 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GCATAGTTTCTATAGGCATCC 0.488000 7 48 0 0 0.029380 0 0 ZNF492 57615 broad.mit.edu 37 19 22847646 22847646 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:22847646C>A ENST00000456783.2 + 4 1419 c.1175C>A c.(1174-1176)cCc>cAc p.P392H NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P392H(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GGAGAGAAGCCCTACAAATGT 0.383000 5 32 3.59834e-05 3.96272e-05 0.217242 1 0 ZNF354B 117608 broad.mit.edu 37 5 178309722 178309722 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:178309722C>T ENST00000322434.3 + 5 495 c.269C>T c.(268-270)aCa>aTa p.T90I NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTAAGAGCACACCTAAAATG 0.368000 15 79 0 0 0.160694 0 0 ALPK1 80216 broad.mit.edu 37 4 113303646 113303646 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:113303646G>T ENST00000458497.1 + 4 493 c.214G>T c.(214-216)Gtg>Ttg p.V72L ALPK1_ENST00000177648.9_Missense_Mutation_p.V72L|ALPK1_ENST00000504176.2_Intron NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 72 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAAACAAGCCGTGGGCCCAGA 0.532000 23 36 5.26018e-13 7.11351e-13 0.234183 1 0 GPATCH2L 55668 broad.mit.edu 37 14 76647192 76647192 + Splice_Site SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:76647192G>C ENST00000261530.7 + 8 1259 c.1193_splice c.e8+1 p.R398_splice GPATCH2L_ENST00000312858.5_Splice_Site_p.R393_splice|GPATCH2L_ENST00000553588.1_Splice_Site_p.D19_splice|GPATCH2L_ENST00000556675.1_3'UTR NM_017926.2 NP_060396.2 G patch domain containing 2-like TGCTCTGCCAGGTAATTGTCT 0.428000 5 153 0 0 0.217242 0 0 REM2 161253 broad.mit.edu 37 14 23354108 23354108 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:23354108A>G ENST00000267396.4 + 2 452 c.329A>G c.(328-330)cAa>cGa p.Q110R REM2_ENST00000536884.1_Missense_Mutation_p.Q110R NM_173527.2 NP_775798.2 Q8IYK8 REM2_HUMAN RAS (RAD and GEM)-like GTP binding 2 110 regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|transcription factor binding breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1) 5 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.012) GCCCCTGCTCAAAAGGATGGC 0.617000 5 24 0 0 0.217242 0 0 ELP4 26610 broad.mit.edu 37 11 31616420 31616420 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:31616420G>T ENST00000395934.2 + 4 492 c.485G>T c.(484-486)tGg>tTg p.W162L ELP4_ENST00000350638.5_Missense_Mutation_p.W162L|ELP4_ENST00000379163.5_Missense_Mutation_p.W162L Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 162 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) AAAATAGCTTGGCGTTACCAG 0.318000 11 37 5.16669e-11 6.74253e-11 0.080935 1 0 PRKCZ 5590 broad.mit.edu 37 1 2106259 2106259 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:2106259G>C ENST00000400921.2 + 12 1606 c.923G>C c.(922-924)gGa>gCa p.G308A PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.G308A NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 491 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) GTTTTAAAAGGATTTTTAAAT 0.537000 OREG0013007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 33 0 0 0.105934 0 0 TRDN 10345 broad.mit.edu 37 6 123539833 123539833 + Silent SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:123539833T>C ENST00000334268.4 - 40 2396 c.2079A>G c.(2077-2079)ggA>ggG p.G693G TRDN_ENST00000398178.3_Silent_p.G701G Q13061 TRDN_HUMAN triadin 701 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GAAACTGAAATCCATAGCCAT 0.458000 4 24 0 0 0.184627 0 0 ZNF341 84905 broad.mit.edu 37 20 32332941 32332941 + Nonsense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:32332941A>T ENST00000375200.1 + 3 540 c.175A>T c.(175-177)Aag>Tag p.K59* ZNF341_ENST00000342427.2_Nonsense_Mutation_p.K59* Q9BYN7 ZN341_HUMAN zinc finger protein 341 59 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CGGGAAGTGTAAGAAGCAATT 0.527000 15 59 0 0 0.160694 0 0 C1orf173 127254 broad.mit.edu 37 1 75078352 75078352 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:75078352C>A ENST00000326665.5 - 9 1360 c.1142G>T c.(1141-1143)gGc>gTc p.G381V C1orf173_ENST00000420661.2_Missense_Mutation_p.G184V|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 381 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 CCCAAAGTAGCCTCGTTTGCC 0.438000 13 69 3.27435e-08 3.98418e-08 0.119110 1 0 ATP10D 57205 broad.mit.edu 37 4 47560036 47560036 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:47560036G>T ENST00000273859.3 + 12 2449 c.2180G>T c.(2179-2181)aGc>aTc p.S727I AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 727 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GAGGCCGAGAGCCCAGACGAA 0.567000 23 35 7.92952e-12 1.05323e-11 0.091800 1 0 AIFM1 9131 broad.mit.edu 37 X 129274513 129274513 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:129274513G>T ENST00000287295.3 - 7 1006 c.776C>A c.(775-777)gCa>gAa p.A259E AIFM1_ENST00000535724.1_Missense_Mutation_p.A172E|AIFM1_ENST00000319908.3_Missense_Mutation_p.A255E|AIFM1_ENST00000346424.2_Intron NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 259 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 CTCACCTGTTGCAATCAAGCA 0.413000 13 126 9.16793e-09 1.13944e-08 0.160694 1 0 MID2 11043 broad.mit.edu 37 X 107084310 107084310 + Missense_Mutation SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:107084310T>G ENST00000262843.6 + 2 963 c.415T>G c.(415-417)Tgc>Ggc p.C139G MID2_ENST00000443968.2_Missense_Mutation_p.C139G NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 139 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GCGAATTGCTTGCCAATTCTG 0.577000 14 59 0 0 0.132662 0 0 MED12 9968 broad.mit.edu 37 X 70347238 70347238 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:70347238G>C ENST00000333646.6 + 21 3101 c.2902G>C c.(2902-2904)Gag>Cag p.E968Q MED12_ENST00000374102.1_Missense_Mutation_p.E968Q|MED12_ENST00000374080.3_Missense_Mutation_p.E968Q NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 968 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CTCCTCTGCAGAGCGCTGTAT 0.517000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 15 48 0 0 0.132662 0 0 ZNF318 24149 broad.mit.edu 37 6 43305759 43305759 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:43305759T>A ENST00000361428.2 - 10 6054 c.5977A>T c.(5977-5979)Ata>Tta p.I1993L ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1993 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TTGCTTTCTATTGTCACTGTT 0.478000 20 76 0 0 0.219247 0 0 TXNDC11 51061 broad.mit.edu 37 16 11782158 11782158 + Splice_Site SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:11782158C>A ENST00000356957.3 - 10 2232 c.e10+1 TXNDC11_ENST00000283033.5_Splice_Site|TXNDC11_ENST00000570917.1_Splice_Site Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TGACTCCATACCTGTTTTTGA 0.423000 17 125 2.48551e-13 3.38756e-13 0.160694 1 0 NSF 4905 broad.mit.edu 37 17 44788392 44788392 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:44788392G>T ENST00000398238.4 + 14 1641 c.1534G>T c.(1534-1536)Gac>Tac p.D512Y NSF_ENST00000575068.1_Missense_Mutation_p.D507Y|NSF_ENST00000225282.8_Missense_Mutation_p.D418Y NM_006178.3 NP_006169.2 P46459 NSF_HUMAN N-ethylmaleimide-sensitive factor 512 protein transport|synaptic transmission cytosol ATP binding|metal ion binding kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) CAAATGGGGTGACCCAGTTAC 0.453000 8 70 1.12685e-05 1.26771e-05 0.047766 1 0 NFAT5 10725 broad.mit.edu 37 16 69681331 69681331 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:69681331A>G ENST00000349945.1 + 5 1924 c.372A>G c.(370-372)aaA>aaG p.K124K NFAT5_ENST00000354436.2_Silent_p.K200K|NFAT5_ENST00000567239.1_Silent_p.K218K|NFAT5_ENST00000566899.1_Silent_p.K124K|NFAT5_ENST00000393742.2_Silent_p.K124K|NFAT5_ENST00000432919.1_Silent_p.K218K NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 200 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TACCTCGTAAATCACGAAAAC 0.463000 13 11 0 0 0.105934 0 0 SHANK1 50944 broad.mit.edu 37 19 51165487 51165487 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:51165487C>A ENST00000293441.1 - 23 6239 c.6221G>T c.(6220-6222)cGc>cTc p.R2074L SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082L|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461L|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065L NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2074 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGAGAGGGAGCGCGAGGCCCC 0.687000 8 5 0.000157383 0.000170799 0.038147 1 0 ATF7 11016 broad.mit.edu 37 12 53994752 53994752 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:53994752G>A ENST00000420353.2 - 2 182 c.33C>T c.(31-33)gcC>gcT p.A11A ATF7_ENST00000328463.7_Silent_p.A11A|ATF7_ENST00000548118.2_Silent_p.A11A|ATF7_ENST00000548446.2_Silent_p.A11A|RP11-793H13.10_ENST00000591834.1_Silent_p.A11A|ATF7_ENST00000591397.1_Silent_p.A11A|ATF7_ENST00000415113.1_Silent_p.A11A|ATF7_ENST00000456903.4_Silent_p.A11A NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 11 Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 CACAGCCCGGGGCATTGCACA 0.438000 6 33 0 0 0.217242 0 0 USP53 54532 broad.mit.edu 37 4 120213653 120213653 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:120213653G>A ENST00000450251.1 + 15 3053 c.2509G>A c.(2509-2511)Gag>Aag p.E837K USP53_ENST00000274030.6_Missense_Mutation_p.E837K Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 837 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 AGAAAATTCTGAGAGAACAGG 0.383000 14 69 0 0 0.132662 0 0 TTN 7273 broad.mit.edu 37 2 179594622 179594622 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:179594622C>T ENST00000589042.1 - 63 18582 c.18358G>A c.(18358-18360)Gga>Aga p.G6120R TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4876R|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5803R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5803 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) GTTGACTGTCCATTCCTCAGC 0.383000 9 63 0 0 0.047766 0 0 ZNF292 23036 broad.mit.edu 37 6 87966730 87966730 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:87966730C>A ENST00000369577.3 + 8 3426 c.3383C>A c.(3382-3384)gCt>gAt p.A1128D ZNF292_ENST00000339907.4_Missense_Mutation_p.A1123D NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A983D(1)|p.A1128D(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GACCAATATGCTGCATTTAAA 0.393000 6 46 0.00198382 0.00207942 0.029380 1 0 CXorf66 347487 broad.mit.edu 37 X 139038644 139038644 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:139038644T>A ENST00000370540.1 - 3 520 c.497A>T c.(496-498)aAg>aTg p.K166M NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 166 Ser-rich. integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 GCATGATGACTTGGATGACCT 0.388000 47 206 0 0 0.139131 0 0 AKR1B10 57016 broad.mit.edu 37 7 134221408 134221408 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:134221408G>A ENST00000359579.4 + 5 756 c.436G>A c.(436-438)Gag>Aag p.E146K AKR1B10_ENST00000475559.1_Intron NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 146 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 ATAGGCCATGGAGGAGCTGGT 0.512000 5 68 0 0 0.217242 0 0 ATAD2 29028 broad.mit.edu 37 8 124359640 124359640 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:124359640C>A ENST00000287394.5 - 16 2011 c.1904G>T c.(1903-1905)tGt>tTt p.C635F ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 635 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATCTGCTCCACAGTATCCTAT 0.393000 10 33 2.17888e-05 2.41994e-05 0.058154 1 0 CORIN 10699 broad.mit.edu 37 4 47746537 47746537 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:47746537C>A ENST00000273857.4 - 5 680 c.681G>T c.(679-681)ctG>ctT p.L227L CORIN_ENST00000504584.1_Silent_p.L227L|CORIN_ENST00000505909.1_Silent_p.L227L|CORIN_ENST00000508498.1_Silent_p.L88L|CORIN_ENST00000502252.1_Silent_p.L160L NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 227 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TCACCATCCCCAGGACTGATT 0.453000 9 484 0.000978159 0.00104417 0.080935 1 0 BRWD3 254065 broad.mit.edu 37 X 79932142 79932142 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:79932142G>C ENST00000373275.4 - 41 5591 c.5375C>G c.(5374-5376)gCc>gGc p.A1792G NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1792 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GCTAACCCTGGCTTTTTCTGT 0.363000 13 75 0 0 0.132662 0 0 DIP2C 22982 broad.mit.edu 37 10 373024 373024 + Silent SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:373024C>G ENST00000280886.6 - 31 3933 c.3846G>C c.(3844-3846)ctG>ctC p.L1282L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1282 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GGTCCTTAAACAGCTTTGAGA 0.607000 29 40 0 0 0.163468 0 0 TRPC3 7222 broad.mit.edu 37 4 122853688 122853688 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:122853688T>A ENST00000264811.5 - 1 924 c.506A>T c.(505-507)cAc>cTc p.H169L TRPC3_ENST00000379645.3_Missense_Mutation_p.H242L|TRPC3_ENST00000513531.1_Missense_Mutation_p.H169L NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 157 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTTCTGGCAGTGCGCCGCCAG 0.612000 10 58 0 0 0.105934 0 0 NDUFA13 51079 broad.mit.edu 37 19 19626829 19626829 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:19626829C>G ENST00000252576.5 + 1 31 c.31C>G c.(31-33)Ctg>Gtg p.L11V NDUFA13_ENST00000507754.3_5'UTR|TSSK6_ENST00000360913.3_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 CACGCCCTGTCTGGGCAAAAG 0.607000 35 15 0 0 0.235728 0 0 MIR873 100126316 broad.mit.edu 37 9 28888880 28888880 + RNA SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:28888880T>C ENST00000401120.1 - 0 73 NR_030618.1 GGAAGATTTGTGGGTGTTCCC 0.413000 13 20 0 0 0.146539 0 0 TG 7038 broad.mit.edu 37 8 133913644 133913644 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:133913644A>T ENST00000220616.4 + 16 3520 c.3480A>T c.(3478-3480)agA>agT p.R1160S TG_ENST00000377869.1_Missense_Mutation_p.R1160S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1160 Thyroglobulin type-1 10. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCTCCAGGAGAGTCAGCCCAG 0.607000 8 81 0 0 0.069234 0 0 CIB4 130106 broad.mit.edu 37 2 26852375 26852375 + Splice_Site SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:26852375C>T ENST00000288861.4 - 3 143 c.e3-1 NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 calcium ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCATGGATGCTGAAAAGAGA 0.612000 2 5 0 0 0.115264 0 0 SYN1 6853 broad.mit.edu 37 X 47464643 47464643 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:47464643G>T ENST00000295987.7 - 4 787 c.663C>A c.(661-663)aaC>aaA p.N221K SYN1_ENST00000340666.4_Missense_Mutation_p.N221K NM_006950.3 NP_008881.2 P17600 SYN1_HUMAN synapsin I 221 C; actin-binding and synaptic-vesicle binding. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 TGTCACAGAAGTTGTAGACAG 0.522000 3 28 0.115264 0.117745 0.115264 1 0 GPR17 2840 broad.mit.edu 37 2 128408864 128408864 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:128408864C>A ENST00000544369.1 + 4 1250 c.639C>A c.(637-639)taC>taA p.Y213* LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Nonsense_Mutation_p.Y213*|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000272644.3_Nonsense_Mutation_p.Y213* NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 213 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TGCAGCTGTACCGGGAGAAGG 0.652000 3 12 3.59834e-05 3.96272e-05 0.217242 1 0 CACNA1E 777 broad.mit.edu 37 1 181705572 181705572 + Splice_Site SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:181705572T>A ENST00000526775.1 + 21 3530 c.e21+2 CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CACCAACCCGTAAGCCACCCT 0.587000 13 34 0 0 0.105934 0 0 NOL4 8715 broad.mit.edu 37 18 31599491 31599491 + Missense_Mutation SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:31599491T>G ENST00000261592.5 - 6 1144 c.847A>C c.(847-849)Agc>Cgc p.S283R NOL4_ENST00000535475.1_Missense_Mutation_p.S128R|NOL4_ENST00000589544.1_Missense_Mutation_p.S283R|NOL4_ENST00000269185.4_Missense_Mutation_p.S169R|NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000538587.1_Missense_Mutation_p.S209R NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 283 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ATCTCCCTGCTGTGTGTTCCC 0.493000 13 26 0 0 0.119110 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410038 105410038 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:105410038T>C ENST00000333244.5 - 7 11869 c.11750A>G c.(11749-11751)gAc>gGc p.D3917G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3917 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CACCTTGGGGTCTTTTAGGTC 0.602000 6 63 0 0 0.217242 0 0 PTCHD1 139411 broad.mit.edu 37 X 23397857 23397857 + Silent SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:23397857T>C ENST00000379361.4 + 2 1361 c.501T>C c.(499-501)aaT>aaC p.N167N NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 167 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GGGCCACCAATCGGACCAATT 0.488000 19 58 0 0 0.175082 0 0 OR5M10 390167 broad.mit.edu 37 11 56344538 56344538 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:56344538G>T ENST00000526812.2 - 1 725 c.660C>A c.(658-660)ttC>ttA p.F220L NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 CTGCAAAAATGAAAAGATAGG 0.448000 26 89 1.7881e-09 2.26551e-09 0.134883 1 0 ZNF574 64763 broad.mit.edu 37 19 42584008 42584008 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:42584008G>T ENST00000600245.1 + 2 1905 c.1250G>T c.(1249-1251)gGt>gTt p.G417V ZNF574_ENST00000359044.4_Missense_Mutation_p.G417V|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.G507V Q6ZN55 ZN574_HUMAN zinc finger protein 574 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GGGGTAGGGGGTGTCCCTCTG 0.587000 50 44 2.84144e-21 4.26215e-21 0.139131 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481141 95481141 + RNA SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:95481141G>T ENST00000432432.2 - 0 2219 NR_040113.1 GTTTGCTGCTGTGTTTTTCTT 0.348000 22 167 3.01185e-09 3.7884e-09 0.091800 1 0 MST1L 11223 broad.mit.edu 37 1 17084510 17084510 + RNA SNP G G A rs61769731 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:17084510G>A ENST00000455405.2 - 0 379 p.L525L(2)|p.L530L(2) ACCCGCTGTAGGCCTGGCTCT 0.577000 4 65 0 0 0.184627 0 0 UNC5D 137970 broad.mit.edu 37 8 35608193 35608193 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:35608193G>C ENST00000287272.2 + 12 1842 c.1822G>C c.(1822-1824)Gcg>Ccg p.A608P UNC5D_ENST00000420357.1_Missense_Mutation_p.A610P|UNC5D_ENST00000449677.1_Missense_Mutation_p.A253P|UNC5D_ENST00000416672.1_Missense_Mutation_p.A682P|UNC5D_ENST00000453357.2_Missense_Mutation_p.A672P|UNC5D_ENST00000404895.2_Missense_Mutation_p.A677P Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 677 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGGGACCTATGCGCTCACTGG 0.507000 31 65 0 0 0.144211 0 0 LINC01410 103352539 broad.mit.edu 37 9 66466216 66466216 + RNA SNP C C T rs112543984 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:66466216C>T ENST00000424345.1 + 0 849 gtgactctctcctagcggaga 0.443000 5 17 0 0 0.029380 0 0 NRP1 8829 broad.mit.edu 37 10 33619677 33619677 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:33619677G>C ENST00000265371.4 - 3 732 c.207C>G c.(205-207)atC>atG p.I69M NRP1_ENST00000374816.3_Missense_Mutation_p.I69M|NRP1_ENST00000374821.5_Missense_Mutation_p.I69M|NRP1_ENST00000374822.4_Missense_Mutation_p.I69M|NRP1_ENST00000395995.1_Missense_Mutation_p.I69M|NRP1_ENST00000374823.5_Missense_Mutation_p.I69M|NRP1_ENST00000374867.2_Missense_Mutation_p.I69M O14786 NRP1_HUMAN neuropilin 1 69 CUB 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GGTTGAAGTTGATCATAATTC 0.478000 3 19 0 0 0.115264 0 0 ADCY5 111 broad.mit.edu 37 3 123166724 123166724 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:123166724C>T ENST00000462833.1 - 1 1881 c.669G>A c.(667-669)tcG>tcA p.S223S NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 223 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCAGTTTGTCCGACGGGAACT 0.667000 3 11 0 0 0.217242 0 0 MMP16 4325 broad.mit.edu 37 8 89179958 89179958 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:89179958C>T ENST00000286614.6 - 4 930 c.649G>A c.(649-651)Gga>Aga p.G217R MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 217 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GTATCTCCTCCAATTCCTGGT 0.408000 6 70 0 0 0.217242 0 0 TUBD1 51174 broad.mit.edu 37 17 57958410 57958410 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:57958410C>A ENST00000325752.3 - 4 659 c.382G>T c.(382-384)Gag>Tag p.E128* TUBD1_ENST00000394239.3_Nonsense_Mutation_p.E128*|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.E128*|TUBD1_ENST00000376094.4_Nonsense_Mutation_p.E128*|TUBD1_ENST00000592426.1_Nonsense_Mutation_p.E128*|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000591611.1_Intron NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 128 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TCACATTTCTCCACTTCCTTC 0.393000 19 89 2.37509e-13 3.27123e-13 0.219247 1 0 FAM47A 158724 broad.mit.edu 37 X 34150064 34150064 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:34150064T>A ENST00000346193.3 - 1 383 c.332A>T c.(331-333)cAg>cTg p.Q111L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 111 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 CCGTGCTAGCTGGGCTGGAGA 0.542000 7 129 0 0 0.029380 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52132629 52132629 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:52132629C>A ENST00000222107.4 - 3 820 c.682G>T c.(682-684)Gtc>Ttc p.V228F SIGLEC5_ENST00000599649.1_Missense_Mutation_p.V228F|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.V228F|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.V228F|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.V228F O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 228 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TTGAGCTGGACAGTTCTCTCC 0.597000 57 76 1.55545e-33 2.43097e-33 0.139131 1 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820937 62820937 + RNA SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:62820937C>A ENST00000582986.1 - 0 188 NR_024386.1 TGTCCAGGGACACGTACTGCT 0.532000 24 58 9.57634e-11 1.2435e-10 0.083992 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711582 155711582 + Silent SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:155711582T>C ENST00000295101.2 + 3 1740 c.1263T>C c.(1261-1263)tcT>tcC p.S421S NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 421 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GGATGAGTTCTACAACTTCAG 0.388000 6 190 0 0 0.029380 0 0 VPS13B 157680 broad.mit.edu 37 8 100520071 100520071 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:100520071C>T ENST00000358544.2 + 28 4342 c.4231C>T c.(4231-4233)Cgc>Tgc p.R1411C VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1411 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCTGAACAGACGCACCTTGTT 0.458000 6 105 0 0 0.038147 0 0 PTPRT 11122 broad.mit.edu 37 20 40730771 40730771 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:40730771A>T ENST00000373198.3 - 27 4008 c.3773T>A c.(3772-3774)cTg>cAg p.L1258Q PTPRT_ENST00000356100.2_Missense_Mutation_p.L1245Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.L1239Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.L1236Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.L1246Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.L1235Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.L1226Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1236 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TACATCCATCAGTGCTGCGTT 0.552000 5 78 0 0 0.184627 0 0 SI 6476 broad.mit.edu 37 3 164758884 164758884 + Splice_Site SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:164758884T>A ENST00000264382.3 - 18 2067 c.e18-2 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) ATCCTGATGCTGTGAGATAGA 0.318000 HNSCC(35;0.089) 92 104 0 0 0.139131 0 0 SEL1L3 23231 broad.mit.edu 37 4 25834645 25834645 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:25834645C>A ENST00000399878.3 - 5 1192 c.1070G>T c.(1069-1071)cGa>cTa p.R357L SEL1L3_ENST00000502949.1_Missense_Mutation_p.R204L|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R322L NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 357 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GATATCCAGTCGAAACCACTC 0.398000 18 89 3.32936e-07 3.95883e-07 0.175082 1 0 SFMBT2 57713 broad.mit.edu 37 10 7247813 7247813 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:7247813T>C ENST00000361972.4 - 12 1498 c.1408A>G c.(1408-1410)Aat>Gat p.N470D SFMBT2_ENST00000397167.1_Missense_Mutation_p.N470D NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 470 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GGATAAGAATTGGCTTCACAC 0.488000 8 43 0 0 0.069234 0 0 PCDH18 54510 broad.mit.edu 37 4 138451915 138451915 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:138451915G>T ENST00000344876.4 - 1 1714 c.1328C>A c.(1327-1329)cCc>cAc p.P443H PCDH18_ENST00000412923.2_Missense_Mutation_p.P443H|PCDH18_ENST00000507846.1_Missense_Mutation_p.P223H|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 443 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AGAGAGACTGGGTGTCCCCCT 0.368000 28 104 1.12875e-08 1.39955e-08 0.116897 1 0 MDP1 145553 broad.mit.edu 37 14 24683754 24683754 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:24683754G>T ENST00000288087.7 - 4 372 c.261C>A c.(259-261)ttC>ttA p.F87L NEDD8-MDP1_ENST00000604306.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.F104L|MDP1_ENST00000396833.2_Missense_Mutation_p.F87L NM_001199822.1|NM_138476.3 NP_001186751.1|NP_612485.2 magnesium-dependent phosphatase 1 breast(2)|large_intestine(2)|lung(3) 7 CAAAGTACCTGAAGAGGTCAA 0.488000 13 71 4.7546e-09 5.95181e-09 0.146539 1 0 ZNF772 400720 broad.mit.edu 37 19 57985636 57985636 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:57985636A>G ENST00000343280.4 - 5 736 c.476T>C c.(475-477)tTg>tCg p.L159S ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.L47S|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.L118S NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) GTGCTCAGCCAAGTGCAAAAT 0.502000 33 44 0 0 0.203993 0 0 LANCL3 347404 broad.mit.edu 37 X 37518781 37518781 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:37518781C>T ENST00000378621.3 + 3 1066 c.764C>T c.(763-765)tCa>tTa p.S255L TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Missense_Mutation_p.S255L NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 255 catalytic activity lung(4)|pancreas(1) 5 CTCAAGCCCTCAGATCGGGAA 0.478000 8 78 0 0 0.038147 0 0 MAGI1 9223 broad.mit.edu 37 3 65479268 65479268 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:65479268C>T ENST00000330909.8 - 3 468 c.469G>A c.(469-471)Gtg>Atg p.V157M MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.V157M|MAGI1_ENST00000497477.2_Missense_Mutation_p.V157M|MAGI1_ENST00000483466.1_Missense_Mutation_p.V157M NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 157 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTATAGTCCACGCCAGGCACT 0.473000 3 35 0 0 0.115264 0 0 SPTA1 6708 broad.mit.edu 37 1 158618311 158618311 + Silent SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:158618311G>C ENST00000368148.3 - 26 3882 c.3702C>G c.(3700-3702)ccC>ccG p.P1234P SPTA1_ENST00000368147.3_Silent_p.P1234P NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1234 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TATCTCCCAGGGGTACGAGGT 0.493000 9 156 0 0 0.047766 0 0 TKTL1 8277 broad.mit.edu 37 X 153551620 153551620 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:153551620G>A ENST00000369915.3 + 9 1443 c.1254G>A c.(1252-1254)acG>acA p.T418T TKTL1_ENST00000369912.2_Silent_p.T362T|TKTL1_ENST00000217905.7_Silent_p.T158T NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 418 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCAAGTGCACGATCTTCTACC 0.517000 7 158 0 0 0.047766 0 0 SH2B1 25970 broad.mit.edu 37 16 28883246 28883246 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:28883246G>A ENST00000337120.5 + 5 4746 c.1455G>A c.(1453-1455)ggG>ggA p.G485G SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Silent_p.G175G|SH2B1_ENST00000359285.5_Silent_p.G485G|SH2B1_ENST00000395532.4_Silent_p.G485G|SH2B1_ENST00000322610.8_Silent_p.G485G|SH2B1_ENST00000538342.1_Silent_p.G149G NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 485 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCCCAACAGGGACAGTTCATC 0.622000 10 58 0 0 0.058154 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763856 77763856 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:77763856C>A ENST00000521891.2 + 10 5147 c.4699C>A c.(4699-4701)Cat>Aat p.H1567N ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1522N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1522N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1541N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1522 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCTCACTTGCATAAGCTGAA 0.408000 HNSCC(33;0.089) 29 186 3.65163e-15 5.13787e-15 0.116897 1 0 PDGFRA 5156 broad.mit.edu 37 4 55141092 55141092 + Missense_Mutation SNP C C A rs143003840 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:55141092C>A ENST00000257290.5 + 12 2069 c.1738C>A c.(1738-1740)Ctg>Atg p.L580M FIP1L1_ENST00000507166.1_Splice_Site_p.L340_splice NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 580 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.L580M(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCCGATGCAGCTGCCTTATGA 0.458000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 26 32 1.7881e-09 2.26551e-09 0.134883 1 0 LRRC16A 55604 broad.mit.edu 37 6 25450201 25450201 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:25450201C>T ENST00000329474.6 + 6 815 c.447C>T c.(445-447)acC>acT p.T149T LRRC16A_ENST00000377969.3_5'UTR NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 149 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 ACAGCCAGACCGTGGCTGAGC 0.498000 3 24 0 0 0.150653 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125233323 125233323 + RNA SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:125233323T>C ENST00000439075.1 - 0 1422 NR_026876.1 AAGGCTAACATTGATAGACTG 0.368000 7 18 0 0 0.029380 0 0 TRIM60 166655 broad.mit.edu 37 4 165961707 165961707 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:165961707G>A ENST00000512596.1 + 3 699 c.483G>A c.(481-483)gtG>gtA p.V161V TRIM60_ENST00000341062.5_Silent_p.V161V|TRIM60_ENST00000508504.1_Silent_p.V161V NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 161 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TTGAAAAAGTGATAATTCTGC 0.358000 10 15 0 0 0.069234 0 0 SORCS3 22986 broad.mit.edu 37 10 106927100 106927100 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:106927100C>A ENST00000369701.3 + 13 2121 c.1894C>A c.(1894-1896)Cat>Aat p.H632N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 632 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) GCCAGTCAGGCATTTGTGGTA 0.463000 23 23 8.04996e-18 1.17705e-17 0.234183 1 0 SNX19 399979 broad.mit.edu 37 11 130785334 130785334 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:130785334C>A ENST00000265909.4 - 1 1070 c.501G>T c.(499-501)caG>caT p.Q167H SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.Q167H NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 167 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GAATGTAGCTCTGCAGGTGAC 0.577000 7 30 1.12685e-05 1.26771e-05 0.047766 1 0 PRKD3 23683 broad.mit.edu 37 2 37516516 37516516 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:37516516C>A ENST00000379066.1 - 5 1462 c.700G>T c.(700-702)Gcc>Tcc p.A234S PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S O94806 KPCD3_HUMAN protein kinase D3 234 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) CTGGGAAGGGCTACATATTCA 0.418000 4 75 1.23904e-05 1.38794e-05 0.184627 1 0 EFCAB6 64800 broad.mit.edu 37 22 43950875 43950875 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr22:43950875C>T ENST00000262726.7 - 27 3775 c.3522G>A c.(3520-3522)gtG>gtA p.V1174V EFCAB6_ENST00000396231.2_Silent_p.V1022V|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AATGGGAAGTCACTGCTTTGT 0.537000 34 4 0 0 0.183431 0 0 TMEM135 65084 broad.mit.edu 37 11 87013349 87013349 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:87013349G>C ENST00000340353.7 + 7 699 c.497G>C c.(496-498)gGg>gCg p.G166A TMEM135_ENST00000305494.5_Missense_Mutation_p.G188A|TMEM135_ENST00000532959.1_Missense_Mutation_p.G59A|TMEM135_ENST00000535167.1_Missense_Mutation_p.G49A NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 188 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTCATTGTAGGGAAGGAAGAA 0.353000 50 80 0 0 0.139131 0 0 MAS1L 116511 broad.mit.edu 37 6 29455361 29455361 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:29455361G>A ENST00000377127.3 - 1 377 c.319C>T c.(319-321)Ccc>Tcc p.P107S NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 107 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 ACCATGTAGGGATTCGTGGCC 0.532000 16 33 0 0 0.175082 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 114 0 0 0.150653 0 0 SLC6A12 6539 broad.mit.edu 37 12 301674 301674 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:301674G>T ENST00000428720.1 - 15 2414 c.1671C>A c.(1669-1671)acC>acA p.T557T SLC6A12_ENST00000359674.4_Silent_p.T557T|SLC6A12_ENST00000424061.2_Silent_p.T557T|SLC6A12_ENST00000397296.2_Silent_p.T557T|SLC6A12_ENST00000536824.1_Silent_p.T557T NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 557 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) TCTTCAGGAGGGTGATGACGA 0.567000 14 35 2.32078e-09 2.92621e-09 0.132662 1 0 SERTAD3 29946 broad.mit.edu 37 19 40947447 40947447 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:40947447A>T ENST00000322354.3 - 2 1037 c.541T>A c.(541-543)Tgg>Agg p.W181R SERTAD3_ENST00000392028.4_Missense_Mutation_p.W181R NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 181 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCCACTCCCAAGAACCTGGG 0.522000 41 64 0 0 0.111260 0 0 ZNF85 7639 broad.mit.edu 37 19 21132839 21132839 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:21132839G>C ENST00000601023.1 + 2 1988 c.1342G>C c.(1342-1344)Gag>Cag p.E448Q ZNF85_ENST00000345030.6_Missense_Mutation_p.E474Q|ZNF85_ENST00000328178.8_Missense_Mutation_p.E507Q Q03923 ZNF85_HUMAN zinc finger protein 85 507 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 TCATACTGGAGAGAAACCATA 0.358000 4 26 0 0 0.184627 0 0 USH2A 7399 broad.mit.edu 37 1 216595416 216595416 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:216595416C>A ENST00000366943.2 - 2 649 c.263G>T c.(262-264)tGc>tTc p.C88F USH2A_ENST00000307340.3_Missense_Mutation_p.C88F|USH2A_ENST00000366942.3_Missense_Mutation_p.C88F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 88 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCTGTATGGGCAATCCTGAAT 0.493000 HNSCC(13;0.011) 14 130 4.93089e-13 6.68552e-13 0.119110 1 0 TPP2 7174 broad.mit.edu 37 13 103317145 103317145 + Splice_Site SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:103317145G>T ENST00000376052.3 + 27 3257 c.3240_splice c.e27-1 p.E1081_splice TPP2_ENST00000376065.4_Splice_Site_p.E1068_splice|TPP2_ENST00000466153.1_3'UTR P29144 TPP2_HUMAN tripeptidyl peptidase II 1068 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCCTCTCCAGGAACGAATGAA 0.348000 8 30 0.000157383 0.000170799 0.038147 1 0 PTPRC 5788 broad.mit.edu 37 1 198675924 198675924 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:198675924A>T ENST00000367376.2 + 9 912 c.741A>T c.(739-741)acA>acT p.T247T PTPRC_ENST00000442510.2_Silent_p.T249T|PTPRC_ENST00000348564.6_Silent_p.T88T|PTPRC_ENST00000594404.1_Silent_p.T86T|PTPRC_ENST00000352140.3_Silent_p.T199T NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 247 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AATTATTTACAGCAAAGCTAA 0.303000 21 227 0 0 0.234183 0 0 ABCB5 340273 broad.mit.edu 37 7 20689653 20689653 + Translation_Start_Site SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:20689653A>T ENST00000258738.6 + 0 347 ABCB5_ENST00000406935.1_De_novo_Start_OutOfFrame|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_De_novo_Start_OutOfFrame|ABCB5_ENST00000404938.2_Missense_Mutation_p.K405N NM_178559.5 NP_848654.3 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AGATTCTGAAAGGTCTGAATC 0.393000 4 42 0 0 0.150653 0 0 GCKR 2646 broad.mit.edu 37 2 27746241 27746241 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:27746241C>A ENST00000264717.2 + 19 1876 c.1813C>A c.(1813-1815)Ctt>Att p.L605I GCKR_ENST00000424318.2_Missense_Mutation_p.L415I NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 605 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CAGGAGTGCTCTTGCTGGGCC 0.607000 22 30 1.87028e-06 2.18409e-06 0.234183 1 0 PREX1 57580 broad.mit.edu 37 20 47269935 47269935 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:47269935G>T ENST00000396220.1 - 20 2332 c.2310C>A c.(2308-2310)caC>caA p.H770Q PREX1_ENST00000371941.3_Missense_Mutation_p.H770Q Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 770 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ATGCCTGGAAGTGCTCCAGGA 0.607000 8 118 1.06961e-07 1.28354e-07 0.038147 1 0 EBF3 253738 broad.mit.edu 37 10 131761676 131761676 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:131761676C>A ENST00000368648.3 - 2 318 c.246G>T c.(244-246)gtG>gtT p.V82V EBF3_ENST00000355311.5_Silent_p.V82V NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 82 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TTTCAATCTCCACCGGCTGCC 0.557000 3 11 0.115264 0.117745 0.115264 1 0 SYCE2 256126 broad.mit.edu 37 19 13011420 13011420 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:13011420T>C ENST00000293695.7 - 4 367 c.349A>G c.(349-351)Att>Gtt p.I117V GCDH_ENST00000588242.2_3'UTR NM_001105578.1 NP_001099048.1 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 117 cell division central element endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 TCATTATAAATCTGATAGATC 0.398000 39 131 0 0 0.225048 0 0 USP6 9098 broad.mit.edu 37 17 5042785 5042785 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:5042785T>A ENST00000574788.1 + 22 3544 c.1314T>A c.(1312-1314)gcT>gcA p.A438A USP6_ENST00000332776.4_Silent_p.A438A|USP6_ENST00000304328.5_Silent_p.A121A|USP6_ENST00000250066.6_Silent_p.A438A P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 438 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGGCCCTGGCTCAGGGAGGAC 0.632000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 5 17 0 0 0.184627 0 0 SCGB1D1 10648 broad.mit.edu 37 11 61957767 61957767 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:61957767C>T ENST00000306238.3 + 1 80 c.11C>T c.(10-12)tCg>tTg p.S4L NM_006552.1 NP_006543.1 O95968 SG1D1_HUMAN secretoglobin, family 1D, member 1 4 extracellular space binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 9 ATGAGGCTGTCGGTGTGTCTC 0.587000 16 64 0 0 0.234183 0 0 FLG 2312 broad.mit.edu 37 1 152279610 152279610 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:152279610A>G ENST00000368799.1 - 3 7787 c.7752T>C c.(7750-7752)tcT>tcC p.S2584S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2584 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) AAGCAGACCCAGACCACCTCT 0.557000 Ichthyosis 18 148 0 0 0.091800 0 0 FAM47A 158724 broad.mit.edu 37 X 34150393 34150393 + Translation_Start_Site SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:34150393C>T ENST00000346193.3 - 1 54 c.3G>A c.(1-3)atG>atA p.M1I NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 1 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 TCTGGTCCCCCATGGTGGCCC 0.642000 3 9 0 0 0.038147 0 0 LRRC7 57554 broad.mit.edu 37 1 70477610 70477610 + Splice_Site SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:70477610G>A ENST00000310961.5 + 13 1453 c.e13+1 LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ACCCAGAGAAGTGAGAAATAA 0.338000 7 15 0 0 0.038147 0 0 LCT 3938 broad.mit.edu 37 2 136566189 136566189 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:136566189G>T ENST00000264162.2 - 8 3738 c.3728C>A c.(3727-3729)aCg>aAg p.T1243K NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1243 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) GTTCATTGCCGTGGAAGGCCA 0.562000 23 38 1.22574e-08 1.5162e-08 0.069288 1 0 GRXCR1 389207 broad.mit.edu 37 4 42965033 42965033 + Missense_Mutation SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:42965033T>G ENST00000399770.2 + 2 509 c.509T>G c.(508-510)tTt>tGt p.F170C NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 170 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 CGCGTAAAATTTGAAGAGAAA 0.433000 8 415 0 0 0.058154 0 0 POLA1 5422 broad.mit.edu 37 X 24844714 24844714 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:24844714G>T ENST00000379068.3 + 32 3775 c.3732G>T c.(3730-3732)tgG>tgT p.W1244C POLA1_ENST00000379059.3_Missense_Mutation_p.W1238C P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 1238 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) TTGCAACGTGGTTGGGTAAGT 0.507000 3 13 0.014758 0.0153154 0.184627 1 0 FAM153A 285596 broad.mit.edu 37 5 177156557 177156557 + Splice_Site SNP C C A rs147363353 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:177156557C>A ENST00000440605.3 - 16 915 c.e16-1 FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000513554.1_Intron NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAGGTCACCTAGGAAACAG 0.542000 22 72 2.12542e-12 2.84479e-12 0.116897 1 0 RNF103 7844 broad.mit.edu 37 2 86847581 86847581 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:86847581C>A ENST00000237455.4 - 2 1206 c.238G>T c.(238-240)Gag>Tag p.E80* RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Nonsense_Mutation_p.E2*|CHMP3_ENST00000439940.2_Nonsense_Mutation_p.E2* NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 80 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 AGCTCACCCTCCATCAAGTCA 0.378000 8 33 1.06961e-07 1.28354e-07 0.038147 1 0 KIF5A 3798 broad.mit.edu 37 12 57962848 57962848 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:57962848A>T ENST00000455537.2 + 9 1091 c.817A>T c.(817-819)Act>Tct p.T273S KIF5A_ENST00000286452.5_Missense_Mutation_p.T184S NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 273 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GGCTGAGGGCACTGTGAGTGA 0.562000 9 21 0 0 0.069234 0 0 ZNF561 93134 broad.mit.edu 37 19 9721688 9721688 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:9721688C>A ENST00000302851.3 - 6 1012 c.649G>T c.(649-651)Gga>Tga p.G217* ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Nonsense_Mutation_p.G81*|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Nonsense_Mutation_p.G148* NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 GTGTGGATTCCCATATGATTA 0.398000 24 52 3.28513e-13 4.46572e-13 0.091800 1 0 HMCN1 83872 broad.mit.edu 37 1 186062355 186062355 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:186062355G>C ENST00000271588.4 + 65 10206 c.9977G>C c.(9976-9978)gGa>gCa p.G3326A HMCN1_ENST00000367492.2_Missense_Mutation_p.G3326A NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3326 Ig-like C2-type 31. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AATCCCGCTGGAGAAGAAGAC 0.403000 20 117 0 0 0.189662 0 0 DKK2 27123 broad.mit.edu 37 4 107956733 107956733 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:107956733G>T ENST00000285311.3 - 1 721 c.16C>A c.(16-18)Cgg>Agg p.R6R DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 6 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TCCTTGCTCCGCATCAACGCG 0.647000 14 72 9.16793e-09 1.13944e-08 0.160694 1 0 CDH23 64072 broad.mit.edu 37 10 73405688 73405688 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:73405688G>A ENST00000224721.6 + 12 1261 c.1256G>A c.(1255-1257)cGg>cAg p.R419Q CDH23_ENST00000398809.4_Missense_Mutation_p.R414Q|CDH23_ENST00000398842.3_Missense_Mutation_p.R414Q|CDH23_ENST00000299366.7_Missense_Mutation_p.R459Q|CDH23_ENST00000461841.3_Missense_Mutation_p.R459Q NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 414 Cadherin 4. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATTCGTATTCGGGTGGCCATC 0.577000 4 39 0 0 0.184627 0 0 VBP1 7411 broad.mit.edu 37 X 154448519 154448519 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:154448519G>A ENST00000286428.5 + 2 270 c.153G>A c.(151-153)aaG>aaA p.K51K VBP1_ENST00000535916.1_Silent_p.K46K NM_003372.5 NP_003363.1 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 51 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAGTATTAAAGAAGCTGGATG 0.303000 5 31 0 0 0.029380 0 0 MST1L 11223 broad.mit.edu 37 1 17085006 17085006 + RNA SNP C C T rs147678325 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:17085006C>T ENST00000455405.2 - 0 182 CGGATGGCCCCCAGCCACGCG 0.607000 7 53 0 0 0.038147 0 0 FARSB 10056 broad.mit.edu 37 2 223507723 223507723 + Splice_Site SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:223507723G>A ENST00000281828.6 - 3 379 c.114_splice c.e3-1 p.T39_splice FARSB_ENST00000536361.1_5'UTR NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 39 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) CTTCTCAGATGTCTAAAACAA 0.313000 6 16 0 0 0.217242 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366052 7366052 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:7366052C>T ENST00000311403.4 - 4 2588 c.2249G>A c.(2248-2250)gGg>gAg p.G750E ZBTB4_ENST00000380599.4_Missense_Mutation_p.G750E NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GTGGGAGCCCCCACCGTGGGC 0.706000 22 27 0 0 0.099896 0 0 NDC1 55706 broad.mit.edu 37 1 54262454 54262454 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:54262454T>A ENST00000371429.3 - 13 2090 c.1492A>T c.(1492-1494)Aat>Tat p.N498Y NDC1_ENST00000537333.1_Missense_Mutation_p.N163Y|NDC1_ENST00000540001.1_Missense_Mutation_p.N498Y|NDC1_ENST00000234725.8_Missense_Mutation_p.N383Y NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin GGAGAAGGATTAGAAAATTCA 0.353000 28 22 0 0 0.116897 0 0 MS4A7 58475 broad.mit.edu 37 11 60161284 60161284 + Nonsense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:60161284C>T ENST00000358246.1 + 6 731 c.538C>T c.(538-540)Caa>Taa p.Q180* MS4A7_ENST00000300184.3_Nonsense_Mutation_p.Q225*|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Nonsense_Mutation_p.Q180*|MS4A14_ENST00000531787.1_Intron NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 225 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 GACCCAGTCACAAGATCATAT 0.348000 25 121 0 0 0.091800 0 0 DENND2A 27147 broad.mit.edu 37 7 140301849 140301849 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:140301849C>T ENST00000275884.6 - 2 766 c.349G>A c.(349-351)Gtc>Atc p.V117I DENND2A_ENST00000537639.1_Missense_Mutation_p.V117I|DENND2A_ENST00000496613.1_Missense_Mutation_p.V117I|DENND2A_ENST00000492720.1_Missense_Mutation_p.V117I Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 117 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TGTCCCCCGACGTTCACTGCT 0.577000 21 162 0 0 0.076483 0 0 RTF1 23168 broad.mit.edu 37 15 41762554 41762554 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:41762554G>A ENST00000389629.4 + 7 1001 c.989G>A c.(988-990)cGc>cAc p.R330H NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 330 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) AAGTCAGACCGCTCATCACGA 0.448000 8 175 0 0 0.047766 0 0 XAF1 54739 broad.mit.edu 37 17 6674154 6674154 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:6674154A>G ENST00000361842.3 + 6 939 c.700A>G c.(700-702)Agc>Ggc p.S234G XAF1_ENST00000346752.4_Missense_Mutation_p.S215G|XAF1_ENST00000441631.1_Missense_Mutation_p.S234G NM_017523.3 NP_059993.2 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 234 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 6 AGCACCAAGAAGCAAAAACAA 0.423000 12 58 0 0 0.080935 0 0 OR51G1 79324 broad.mit.edu 37 11 4944782 4944782 + Missense_Mutation SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:4944782A>C ENST00000321961.2 - 1 855 c.788T>G c.(787-789)gTg>gGg p.V263G MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGCGATGCACAAGAGACAA 0.517000 22 67 0 0 0.083992 0 0 IL17RC 84818 broad.mit.edu 37 3 9959148 9959148 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:9959148A>T ENST00000295981.3 + 1 367 c.149A>T c.(148-150)cAg>cTg p.Q50L IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000383812.4_Intron|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Intron NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 50 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CTCAGGGTTCAGTTTTTGGCT 0.577000 5 21 0 0 0.184627 0 0 GJC3 349149 broad.mit.edu 37 7 99526682 99526682 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:99526682T>C ENST00000312891.2 - 1 561 c.562A>G c.(562-564)Aag>Gag p.K188E NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 188 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AAAATGGTCTTCTCAGAGGGG 0.507000 9 294 0 0 0.047766 0 0 MROH5 389690 broad.mit.edu 37 8 142505516 142505516 + RNA SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:142505516C>A ENST00000430863.1 - 0 410 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TCTTGATCTTCTTGATGATGT 0.527000 11 75 0.00010058 0.000109838 0.093190 1 0 DOCK11 139818 broad.mit.edu 37 X 117707971 117707971 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:117707971A>G ENST00000276204.6 + 12 1453 c.1379A>G c.(1378-1380)tAc>tGc p.Y460C DOCK11_ENST00000276202.7_Missense_Mutation_p.Y460C Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 460 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 CAGTTACGCTACATACAACAG 0.428000 3 50 0 0 0.150653 0 0 CCDC136 64753 broad.mit.edu 37 7 128432408 128432408 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:128432408T>A ENST00000464832.1 + 2 137 c.93T>A c.(91-93)gcT>gcA p.A31A CCDC136_ENST00000487361.1_5'UTR|CCDC136_ENST00000378685.4_Silent_p.A31A|CCDC136_ENST00000297788.4_5'UTR Q96JN2 CC136_HUMAN coiled-coil domain containing 136 0 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CCTATGAGGCTTCCGAGGGCT 0.622000 5 16 0 0 0.217242 0 0 SOX11 6664 broad.mit.edu 37 2 5833048 5833048 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:5833048G>A ENST00000322002.3 + 1 250 c.195G>A c.(193-195)agG>agA p.R65R NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 65 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) TCGAACGCAGGAAGATCATGG 0.587000 5 22 0 0 0.184627 0 0 ZFPM2 23414 broad.mit.edu 37 8 106456506 106456506 + Splice_Site SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:106456506A>T ENST00000407775.2 + 3 449 c.e3-1 ZFPM2_ENST00000520492.1_Splice_Site NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GGTGTTTTCCAGGTGATGATG 0.458000 4 56 0 0 0.150653 0 0 CDK17 5128 broad.mit.edu 37 12 96694099 96694099 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:96694099A>G ENST00000261211.3 - 6 1186 c.583T>C c.(583-585)Ttg>Ctg p.L195L CDK17_ENST00000543119.2_Silent_p.L195L|CDK17_ENST00000542666.1_Silent_p.L142L|CDK17_ENST00000553042.1_5'UTR NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 195 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AGCTTTTCCAATTTGATGTAG 0.294000 8 33 0 0 0.058154 0 0 MAP4K3 8491 broad.mit.edu 37 2 39514070 39514070 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:39514070G>A ENST00000263881.3 - 21 1834 c.1510C>T c.(1510-1512)Cga>Tga p.R504* MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.R483*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.R57*|MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.R420* NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 504 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GAGCCATCTCGTTCACCATTT 0.318000 6 43 0 0 0.038147 0 0 SULF2 55959 broad.mit.edu 37 20 46295154 46295154 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:46295154C>G ENST00000359930.4 - 12 2506 c.1655G>C c.(1654-1656)gGc>gCc p.G552A SULF2_ENST00000467815.1_Missense_Mutation_p.G552A|SULF2_ENST00000484875.1_Missense_Mutation_p.G552A|SULF2_ENST00000361612.4_Missense_Mutation_p.G552A NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 552 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ATCACCCAGGCCTACGTGGTA 0.632000 3 13 0 0 0.184627 0 0 ITGAL 3683 broad.mit.edu 37 16 30490502 30490502 + Missense_Mutation SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:30490502A>C ENST00000356798.6 + 5 598 c.418A>C c.(418-420)Atg>Ctg p.M140L ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000454514.2_Missense_Mutation_p.M140L|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 140 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCAGGGTCCCATGCTGCAGGG 0.552000 18 75 0 0 0.219247 0 0 ABCA3 21 broad.mit.edu 37 16 2334331 2334331 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:2334331G>A ENST00000301732.5 - 25 4511 c.3811C>T c.(3811-3813)Cgg>Tgg p.R1271W ABCA3_ENST00000382381.3_Missense_Mutation_p.R1213W NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1271 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CAGTACCTCCGCGTCTCGTAG 0.592000 5 23 0 0 0.184627 0 0 NALCN 259232 broad.mit.edu 37 13 102029288 102029288 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:102029288G>A ENST00000251127.6 - 5 576 c.495C>T c.(493-495)acC>acT p.T165T NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.T165T|NALCN_ENST00000376196.3_Silent_p.T165T NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 165 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGTAATTCTGGTCCTTGGCA 0.373000 5 111 0 0 0.184627 0 0 AP1M2 10053 broad.mit.edu 37 19 10692527 10692527 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:10692527C>A ENST00000590923.1 - 4 378 c.295G>T c.(295-297)Gag>Tag p.E99* AP1M2_ENST00000250244.6_Nonsense_Mutation_p.E99* Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 99 cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CTCTCCTCCTCCAGCTCCTTG 0.542000 6 22 0.00116845 0.00123218 0.217242 1 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654973 31654973 + Missense_Mutation SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:31654973A>C ENST00000340345.4 - 1 303 c.278T>G c.(277-279)gTg>gGg p.V93G NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 93 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 GTTGCAGGGCACAGAGGAGTT 0.572000 34 32 0 0 0.203993 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008697 88008697 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:88008697C>A ENST00000276127.4 + 3 541 c.282C>A c.(280-282)acC>acA p.T94T CPXCR1_ENST00000373111.1_Silent_p.T94T NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 94 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 TACTTCAGACCCCCATTCCCA 0.413000 10 54 1.76689e-08 2.15495e-08 0.058154 1 0 PCDHB12 56124 broad.mit.edu 37 5 140590654 140590654 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:140590654C>T ENST00000239450.2 + 1 2364 c.2175C>T c.(2173-2175)tgC>tgT p.C725C PCDHB12_ENST00000541609.1_Silent_p.C388C NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 725 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGTCGCTGCTCGGTGCCTG 0.657000 52 21 0 0 0.139131 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11253 11253 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrM:11253T>C ENST00000361381.2 + 1 494 c.494T>C c.(493-495)aTt>aCt p.165_165insT mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CATCGCACTAATTTACACTCA 0.473000 14 535 0 0 0.119110 0 0 CCL28 56477 broad.mit.edu 37 5 43381991 43381991 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:43381991C>A ENST00000361115.4 - 3 429 c.355G>T c.(355-357)Gaa>Taa p.E119* CCL28_ENST00000513525.1_Nonsense_Mutation_p.E72* NM_148672.2 NP_683513.1 Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 119 chemotaxis|immune response extracellular space chemokine activity kidney(3)|lung(3)|ovary(1) 7 CCGTATGTTTCGTGTTTCCCC 0.418000 44 292 6.17242e-35 9.67568e-35 0.139131 1 0 UVSSA 57654 broad.mit.edu 37 4 1345538 1345538 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:1345538A>T ENST00000389851.4 + 4 912 c.465A>T c.(463-465)gcA>gcT p.A155A UVSSA_ENST00000511216.1_Silent_p.A155A|UVSSA_ENST00000507531.1_Silent_p.A155A NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 155 GGAGTCTGGCAGAAAGGAAGA 0.502000 OREG0016033 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 8 0 0 0.029380 0 0 NLRP10 338322 broad.mit.edu 37 11 7981511 7981511 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:7981511C>A ENST00000328600.2 - 2 1809 c.1648G>T c.(1648-1650)Gaa>Taa p.E550* NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 550 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCATCTGTTCTTTAAAATGC 0.393000 25 20 5.77227e-19 8.53577e-19 0.134883 1 0 OR2F1 26211 broad.mit.edu 37 7 143657464 143657464 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:143657464C>A ENST00000392899.1 + 1 438 c.401C>A c.(400-402)gCc>gAc p.A134D NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CGATACTCGGCCATCATGCAT 0.552000 32 142 7.11191e-15 9.97961e-15 0.173368 1 0 DCDC2 51473 broad.mit.edu 37 6 24178641 24178641 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:24178641C>T ENST00000378454.3 - 9 1544 c.1243G>A c.(1243-1245)Gag>Aag p.E415K DCDC2_ENST00000378450.3_Missense_Mutation_p.E168K NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 415 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TGCTGCAGCTCCTCACCATTC 0.498000 58 95 0 0 0.139131 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26237667 26237667 + RNA SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:26237667C>G ENST00000519902.1 - 0 2281 AATCAAAGTTCTAGCAGACAT 0.443000 7 22 0 0 0.029380 0 0 TLR1 7096 broad.mit.edu 37 4 38799909 38799909 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:38799909C>A ENST00000308979.2 - 4 817 c.544G>T c.(544-546)Gag>Tag p.E182* TLR1_ENST00000502213.2_Nonsense_Mutation_p.E182* NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 182 E -> G (in Ref. 3; CAB43364). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TGAAGGCCCTCAGGGTCTTCT 0.413000 24 35 6.44725e-10 8.24869e-10 0.069288 1 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 114 0 0 0.150653 0 0 GHITM 27069 broad.mit.edu 37 10 85901331 85901331 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:85901331C>T ENST00000372134.3 + 2 268 c.75C>T c.(73-75)tcC>tcT p.S25S NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 25 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 CCAAGGCCTCCCCTGTTGTGA 0.468000 5 64 0 0 0.184627 0 0 ZAN 7455 broad.mit.edu 37 7 100344279 100344279 + RNA SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:100344279G>C ENST00000542585.1 + 0 1033 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACATCCTCCGGGGCCAGTCTC 0.557000 20 35 0 0 0.091800 0 0 NEK10 152110 broad.mit.edu 37 3 27387648 27387648 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:27387648G>A ENST00000429845.2 - 5 554 c.192C>T c.(190-192)atC>atT p.I64I NEK10_ENST00000341435.5_Silent_p.I64I Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 64 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CACCCGCCCTGATGGCGGGCT 0.468000 15 77 0 0 0.116897 0 0 ATP2B2 491 broad.mit.edu 37 3 10417176 10417176 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:10417176C>T ENST00000397077.1 - 10 1794 c.1219G>A c.(1219-1221)Gtg>Atg p.V407M ATP2B2_ENST00000343816.4_Missense_Mutation_p.V438M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V452M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V452M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V407M Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 452 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACGGCGACCACCAGCACCGTC 0.612000 7 5 0 0 0.029380 0 0 RYR3 6263 broad.mit.edu 37 15 33925214 33925214 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:33925214C>A ENST00000389232.4 + 24 3002 c.2932C>A c.(2932-2934)Cct>Act p.P978T RYR3_ENST00000415757.3_Missense_Mutation_p.P978T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 978 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTGTTACCTCCTCAAGAAAT 0.383000 24 70 3.83957e-06 4.3953e-06 0.076483 1 0 PDP1 54704 broad.mit.edu 37 8 94935646 94935646 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:94935646G>T ENST00000396200.3 + 3 1710 c.1434G>T c.(1432-1434)gtG>gtT p.V478V PDP1_ENST00000517764.1_Silent_p.V453V|PDP1_ENST00000520728.1_Silent_p.V453V|PDP1_ENST00000297598.4_Silent_p.V453V NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 453 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 GCTACAAGGTGACTCTGGGAC 0.498000 37 79 1.15505e-17 1.67948e-17 0.111260 1 0 CEP192 55125 broad.mit.edu 37 18 13049233 13049233 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:13049233A>G ENST00000506447.1 + 16 2523 c.2443A>G c.(2443-2445)Aaa>Gaa p.K815E CEP192_ENST00000325971.8_Missense_Mutation_p.K219E|CEP192_ENST00000430049.2_Missense_Mutation_p.K340E NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 410 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATCTTTGCCCAAAGAACAAAC 0.378000 13 75 0 0 0.132662 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123480980 123480980 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:123480980A>G ENST00000529750.1 + 13 1751 c.1424A>G c.(1423-1425)cAt>cGt p.H475R GRAMD1B_ENST00000322282.7_Missense_Mutation_p.H475R|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.H166R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.H482R NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 475 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GTGCCCTACCATGACTACTTC 0.562000 5 80 0 0 0.217242 0 0 EPHB2 2048 broad.mit.edu 37 1 23239017 23239017 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:23239017A>G ENST00000400191.3 + 15 2795 c.2777A>G c.(2776-2778)aAg>aGg p.K926R EPHB2_ENST00000374627.1_Missense_Mutation_p.K921R|EPHB2_ENST00000374630.3_Missense_Mutation_p.K926R|EPHB2_ENST00000374632.3_Missense_Mutation_p.K927R NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 926 SAM. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GAGGCCATCAAGATGGGGCAG 0.592000 6 47 0 0 0.029380 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380844 28380844 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:28380844A>T ENST00000394835.3 + 10 2064 c.1872A>T c.(1870-1872)gcA>gcT p.A624A EFCAB5_ENST00000320856.5_Silent_p.A624A|EFCAB5_ENST00000378738.3_Silent_p.A624A|EFCAB5_ENST00000541045.1_Silent_p.A281A|EFCAB5_ENST00000536908.2_Silent_p.A568A|EFCAB5_ENST00000394832.2_Silent_p.A624A NM_198529.3 NP_940931.2 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 624 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GGTCAGTAGCAGAACAAGGAT 0.453000 55 248 0 0 0.139131 0 0 XIRP2 129446 broad.mit.edu 37 2 168103121 168103121 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:168103121G>A ENST00000409195.1 + 9 5308 c.5219G>A c.(5218-5220)aGa>aAa p.R1740K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1518K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1740K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1565 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCCTCTGAGAGAGGAAATGTT 0.368000 9 146 0 0 0.047766 0 0 ZNF561 93134 broad.mit.edu 37 19 9721689 9721689 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:9721689C>A ENST00000302851.3 - 6 1011 c.648G>T c.(646-648)atG>atT p.M216I ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.M80I|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.M147I NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 TGTGGATTCCCATATGATTAT 0.403000 26 51 4.87955e-14 6.8105e-14 0.108266 1 0 TSPYL2 64061 broad.mit.edu 37 X 53114877 53114877 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:53114877G>A ENST00000375442.4 + 6 1435 c.1303G>A c.(1303-1305)Gac>Aac p.D435N NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 435 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 TGCAGTGGAAGACATTTTCAG 0.473000 11 40 0 0 0.080935 0 0 SATB1 6304 broad.mit.edu 37 3 18390907 18390907 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:18390907C>A ENST00000338745.6 - 11 3781 c.2047G>T c.(2047-2049)Gac>Tac p.D683Y SATB1_ENST00000454909.2_Missense_Mutation_p.D683Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D715Y|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 683 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTGGGAAGGTCGAGCTGGGCA 0.498000 11 139 3.86212e-05 4.24427e-05 0.069234 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482269 142482269 + RNA SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:142482269G>T ENST00000603901.1 + 0 649 NR_001296.3 TGTCTCCTGGGGCTATGGCTG 0.522000 16 93 3.52763e-06 4.04709e-06 0.160694 1 0 MMP2 4313 broad.mit.edu 37 16 55525795 55525795 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:55525795G>A ENST00000219070.4 + 8 1772 c.1263G>A c.(1261-1263)atG>atA p.M421I MMP2_ENST00000570308.1_Missense_Mutation_p.M345I|MMP2_ENST00000437642.2_Missense_Mutation_p.M371I|MMP2_ENST00000543485.1_Missense_Mutation_p.M345I NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 421 Collagenase-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GGGCCCTGATGGCACCCATTT 0.612000 14 91 0 0 0.105934 0 0 C2CD2 25966 broad.mit.edu 37 21 43327262 43327262 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:43327262T>C ENST00000380486.3 - 10 1398 c.1157A>G c.(1156-1158)gAa>gGa p.E386G C2CD2_ENST00000329623.7_Missense_Mutation_p.E231G NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 386 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 TTCACCAGGTTCCATGTAAGA 0.498000 7 31 0 0 0.029380 0 0 DOCK2 1794 broad.mit.edu 37 5 169469081 169469081 + Missense_Mutation SNP G G A rs145262338 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:169469081G>A ENST00000256935.8 + 38 3901 c.3821G>A c.(3820-3822)cGg>cAg p.R1274Q DOCK2_ENST00000540750.1_Missense_Mutation_p.R335Q|DOCK2_ENST00000520908.1_Missense_Mutation_p.R766Q|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1274 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGACACACCGGCAGCTGAAG 0.587000 4 40 0 0 0.150653 0 0 MYO1F 4542 broad.mit.edu 37 19 8590441 8590441 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:8590441T>A ENST00000338257.8 - 25 3043 c.2776A>T c.(2776-2778)Acg>Tcg p.T926S NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 926 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCCTTCCGCGTAGGCTCTGAA 0.632000 4 16 0 0 0.150653 0 0 NLRP8 126205 broad.mit.edu 37 19 56466894 56466894 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:56466894G>A ENST00000291971.3 + 3 1541 c.1470G>A c.(1468-1470)atG>atA p.M490I NLRP8_ENST00000590542.1_Missense_Mutation_p.M490I NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 490 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCCTTGGCATGAGTATTCTTC 0.483000 26 67 0 0 0.099896 0 0 SPTBN2 6712 broad.mit.edu 37 11 66460730 66460730 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:66460730T>A ENST00000533211.1 - 24 5112 c.4781A>T c.(4780-4782)tAc>tTc p.Y1594F SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1594F|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1594F O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1594 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GGCATCGCGGTAGAACTGCTG 0.632000 16 64 0 0 0.204396 0 0 NARS 4677 broad.mit.edu 37 18 55282959 55282959 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:55282959C>T ENST00000256854.5 - 4 711 c.256G>A c.(256-258)Gaa>Aaa p.E86K NARS_ENST00000423481.2_5'UTR NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 86 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) AAACTATCTTCTGCCTAATTT 0.368000 23 52 0 0 0.099896 0 0 KRT75 9119 broad.mit.edu 37 12 52824463 52824463 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:52824463G>T ENST00000252245.5 - 5 1117 c.897C>A c.(895-897)gtC>gtA p.V299V NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 299 Linker 12.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) ATGTGTCACCGACCTGGGTCT 0.512000 13 49 1.5842e-08 1.95497e-08 0.105934 1 0 PAPPA 5069 broad.mit.edu 37 9 118950437 118950437 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:118950437T>A ENST00000328252.3 + 2 1789 c.1420T>A c.(1420-1422)Tgt>Agt p.C474S NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 474 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGGAGAGTGCTGTGACCCTGA 0.522000 18 31 0 0 0.219247 0 0 KIAA1598 57698 broad.mit.edu 37 10 118719676 118719676 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:118719676G>A ENST00000355371.4 - 4 735 c.238C>T c.(238-240)Cga>Tga p.R80* KIAA1598_ENST00000392901.4_Nonsense_Mutation_p.R20*|KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.R80*|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.R80* NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 80 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) GCACTTTCTCGACAAGTCTTC 0.378000 4 13 0 0 0.150653 0 0 CEACAM5 1048 broad.mit.edu 37 19 42231194 42231194 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:42231194C>T ENST00000221992.6 + 9 2181 c.2067C>T c.(2065-2067)gtC>gtT p.V689V CEACAM5_ENST00000405816.1_Silent_p.V689V|CEACAM5_ENST00000398599.4_Silent_p.V688V|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 689 V -> A (in Ref. 3; AAA62835). anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GGGCCACTGTCGGCATCATGA 0.473000 27 555 0 0 0.125774 0 0 ZNF716 441234 broad.mit.edu 37 7 57528449 57528449 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:57528449C>A ENST00000420713.1 + 4 394 c.282C>A c.(280-282)acC>acA p.T94T NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 CTCATTTCACCCAAGACCTTC 0.313000 5 63 5.9392e-07 7.01417e-07 0.217242 1 0 PALLD 23022 broad.mit.edu 37 4 169589483 169589483 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:169589483G>C ENST00000261509.6 + 3 1262 c.1051G>C c.(1051-1053)Ggc>Cgc p.G351R PALLD_ENST00000505667.1_Missense_Mutation_p.G351R|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.G228R NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 351 Ig-like C2-type 1. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAATCCCAGCGGCTCAGACAC 0.522000 Pancreatic Cancer, Familial Clustering of 33 66 0 0 0.139131 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227333438 227333438 + Splice_Site SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:227333438C>G ENST00000366769.3 - 8 2186 c.894_splice c.e8-1 p.E299_splice CDC42BPA_ENST00000366764.2_Splice_Site_p.E299_splice|CDC42BPA_ENST00000366765.3_Splice_Site_p.E299_splice|CDC42BPA_ENST00000334218.5_Splice_Site_p.E299_splice|CDC42BPA_ENST00000366766.2_Splice_Site_p.E299_splice|CDC42BPA_ENST00000535525.1_Splice_Site_p.E299_splice|CDC42BPA_ENST00000366767.3_Splice_Site_p.E299_splice NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 299 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.E299Q(1) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TGAAACCTCTCCTAAACAGAG 0.313000 27 75 0 0 0.125774 0 0 FIP1L1 81608 broad.mit.edu 37 4 54319108 54319108 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:54319108G>A ENST00000337488.6 + 16 1501 c.1307G>A c.(1306-1308)gGt>gAt p.G436D FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G362D|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G430D NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 436 mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) CATCTTCCTGGTTCTGCTCCT 0.423000 T PDGFRA idiopathic hypereosinophilic syndrome 33 109 0 0 0.225048 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179529113 179529113 + Missense_Mutation SNP C C T rs139061980 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:179529113C>T ENST00000393371.2 - 12 1630 c.1334G>A c.(1333-1335)aGc>aAc p.S445N RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S294N|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S445N Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 445 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTCTCTGGGCTCTCACTTTC 0.428000 9 23 0 0 0.069234 0 0 SPTA1 6708 broad.mit.edu 37 1 158584094 158584094 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:158584094T>A ENST00000368148.3 - 49 6971 c.6791A>T c.(6790-6792)gAc>gTc p.D2264V SPTA1_ENST00000368147.3_Missense_Mutation_p.D2261V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2264 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACCTTTGATGTCCCTGAAAGA 0.328000 9 85 0 0 0.047766 0 0 CMTR2 55783 broad.mit.edu 37 16 71318473 71318473 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:71318473C>A ENST00000338099.5 - 3 1687 c.1351G>T c.(1351-1353)Gaa>Taa p.E451* FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.E451* Q8IYT2 FTSJ1_HUMAN 451 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAAAGGGCTTCTAGCATCTTC 0.343000 17 22 2.48551e-13 3.38756e-13 0.160694 1 0 UBBP4 23666 broad.mit.edu 37 17 21731049 21731049 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:21731049G>T ENST00000584755.1 + 2 748 c.351G>T c.(349-351)caG>caT p.Q117H UBBP4_ENST00000578713.1_Missense_Mutation_p.Q117H|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CCGACCAGCAGAGGCTCATCT 0.547000 29 39 1.04594e-18 1.54232e-18 0.235728 1 0 GPR87 53836 broad.mit.edu 37 3 151012910 151012910 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:151012910T>A ENST00000260843.4 - 3 588 c.124A>T c.(124-126)Aca>Tca p.T42S MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 42 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AAGACAATTGTGTCAAATTCA 0.453000 10 88 0 0 0.069234 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1808302 1808302 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:1808302G>T ENST00000518288.1 + 5 668 c.505G>T c.(505-507)Gcc>Tcc p.A169S ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A169S|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.A169S|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A145S|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A145S|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A169S O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 169 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCTGCTGCCCGCCTACTCCAG 0.652000 11 23 7.93312e-07 9.32678e-07 0.119110 1 0 MXRA7 439921 broad.mit.edu 37 17 74684255 74684255 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:74684255C>T ENST00000355797.3 - 2 354 c.346G>A c.(346-348)Gag>Aag p.E116K MXRA7_ENST00000449428.2_Missense_Mutation_p.E116K|MXRA7_ENST00000588114.1_5'UTR|MXRA7_ENST00000592148.1_Missense_Mutation_p.E159K|MXRA7_ENST00000585519.1_5'UTR|MXRA7_ENST00000375036.2_Missense_Mutation_p.E116K|MXRA7_ENST00000589082.1_5'UTR NM_001008528.1 NP_001008528.1 P84157 MXRA7_HUMAN matrix-remodelling associated 7 116 integral to membrane kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 TCCTGCTCCTCTTCCTGCAAG 0.622000 12 29 0 0 0.105934 0 0 OR1L4 254973 broad.mit.edu 37 9 125486742 125486742 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:125486742G>A ENST00000259466.1 + 1 474 c.474G>A c.(472-474)ctG>ctA p.L158L NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 TACATTCCCTGTTCCGCGTGC 0.488000 7 203 0 0 0.116897 0 0 OR13C8 138802 broad.mit.edu 37 9 107331963 107331963 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:107331963A>T ENST00000335040.1 + 1 515 c.515A>T c.(514-516)aAt>aTt p.N172I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGTGCTAATAATGTCATTAAA 0.443000 11 74 0 0 0.105934 0 0 SAMD15 161394 broad.mit.edu 37 14 77844783 77844783 + Nonsense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:77844783C>G ENST00000216471.4 + 1 1308 c.1022C>G c.(1021-1023)tCa>tGa p.S341* SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 341 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAGGAAGAATCAAGAAAAACA 0.368000 9 268 0 0 0.047766 0 0 IKBKE 9641 broad.mit.edu 37 1 206648289 206648289 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:206648289G>A ENST00000367120.3 + 5 683 c.310G>A c.(310-312)Gcc>Acc p.A104T IKBKE_ENST00000537984.1_Missense_Mutation_p.A19T|IKBKE_ENST00000462698.1_Intron NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 104 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) CCCTGAGAATGCCTTTGGGCT 0.642000 7 74 0 0 0.038147 0 0 MYH15 22989 broad.mit.edu 37 3 108220688 108220688 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:108220688C>A ENST00000273353.3 - 4 326 c.270G>T c.(268-270)aaG>aaT p.K90N NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 90 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTTTGTCCTCCTTTATGCTCA 0.408000 38 194 5.34276e-22 8.03723e-22 0.139131 1 0 UXT 8409 broad.mit.edu 37 X 47516658 47516658 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:47516658C>A ENST00000335890.2 - 4 469 c.316G>T c.(316-318)Gga>Tga p.G106* UXT_ENST00000333119.3_Nonsense_Mutation_p.G94*|UXT_ENST00000460840.1_5'UTR NM_153477.2 NP_705582.1 Q9UBK9 UXT_HUMAN ubiquitously-expressed, prefoldin-like chaperone 94 centrosome organization|mitochondrion transport along microtubule|protein folding centrosome|nucleus|prefoldin complex beta-tubulin binding|microtubule binding|unfolded protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1) 6 AAACCATATCCCAGGGCCACA 0.453000 10 30 1.08611e-07 1.30034e-07 0.080935 1 0 MYH15 22989 broad.mit.edu 37 3 108220687 108220687 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:108220687C>A ENST00000273353.3 - 4 327 c.271G>T c.(271-273)Gag>Tag p.E91* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 91 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATTTTGTCCTCCTTTATGCTC 0.408000 38 192 5.34276e-22 8.03723e-22 0.139131 1 0 RYR2 6262 broad.mit.edu 37 1 237947066 237947066 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:237947066C>A ENST00000366574.2 + 90 12371 c.12054C>A c.(12052-12054)gaC>gaA p.D4018E RYR2_ENST00000542537.1_Missense_Mutation_p.D4002E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4024E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4018 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) AATTTTTTGACATGTTCTTAA 0.403000 6 57 3.59834e-05 3.96272e-05 0.217242 1 0 GEM 2669 broad.mit.edu 37 8 95262803 95262803 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:95262803C>A ENST00000297596.2 - 5 890 c.626G>T c.(625-627)tGt>tTt p.C209F GEM_ENST00000396194.2_Missense_Mutation_p.C209F NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 209 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) CACCACTGCACAGGCTCTCCC 0.547000 16 74 5.01169e-05 5.49602e-05 0.160694 1 0 COX7B2 170712 broad.mit.edu 37 4 46737033 46737033 + Silent SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:46737033A>C ENST00000396533.1 - 4 427 c.177T>G c.(175-177)acT>acG p.T59T COX7B2_ENST00000302930.5_Silent_p.T59T|COX7B2_ENST00000355591.3_Silent_p.T59T|COX7B2_ENST00000543208.1_Silent_p.T58T Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 59 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity large_intestine(1)|lung(4) 5 TTCCAATCTGAGTGGCTGTAA 0.423000 13 149 0 0 0.132662 0 0 SPTA1 6708 broad.mit.edu 37 1 158618310 158618310 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:158618310G>C ENST00000368148.3 - 26 3883 c.3703C>G c.(3703-3705)Ctg>Gtg p.L1235V SPTA1_ENST00000368147.3_Missense_Mutation_p.L1235V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1235 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTATCTCCCAGGGGTACGAGG 0.498000 9 157 0 0 0.058154 0 0 PCLO 27445 broad.mit.edu 37 7 82532040 82532040 + Silent SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:82532040C>G ENST00000423517.2 - 9 13792 c.13455G>C c.(13453-13455)ggG>ggC p.G4485G PCLO_ENST00000333891.8_Silent_p.G4485G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4416 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCATAGTTTTCCCGTTCATCT 0.313000 11 28 0 0 0.105934 0 0 MED12 9968 broad.mit.edu 37 X 70348171 70348171 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:70348171G>T ENST00000333646.6 + 23 3434 c.3235G>T c.(3235-3237)Gca>Tca p.A1079S MED12_ENST00000374102.1_Missense_Mutation_p.A1079S|MED12_ENST00000374080.3_Missense_Mutation_p.A1079S NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1079 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) AATCCTGTGTGCAGAGCTGAC 0.483000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 17 85 4.35082e-09 5.45944e-09 0.219247 1 0 GPX6 257202 broad.mit.edu 37 6 28478622 28478622 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:28478622G>T ENST00000361902.1 - 2 196 c.147C>A c.(145-147)aaC>aaA p.N49K GPX6_ENST00000474923.1_Missense_Mutation_p.N49K|GPX6_ENST00000483058.1_5'UTR NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 49 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) ACTCCTCGCCGTTGAGGGTGA 0.458000 6 34 0.00116845 0.00123218 0.217242 1 0 ADPRH 141 broad.mit.edu 37 3 119301158 119301158 + Missense_Mutation SNP G G T rs146978056 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:119301158G>T ENST00000478399.1 + 2 1547 c.142G>T c.(142-144)Gtg>Ttg p.V48L ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000357003.3_Missense_Mutation_p.V48L|ADPRH_ENST00000478927.1_Missense_Mutation_p.V48L|ADPRH_ENST00000465513.1_Missense_Mutation_p.V48L P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 48 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) TGCCCTAGACGTGGGAAGGTG 0.552000 20 21 7.33532e-06 8.28796e-06 0.091800 1 0 TKTL1 8277 broad.mit.edu 37 X 153524338 153524338 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:153524338G>T ENST00000369915.3 + 1 315 c.126G>T c.(124-126)acG>acT p.T42T TKTL1_ENST00000217905.7_5'UTR NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 42 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATGCTCCACGAGCTCCGGGT 0.617000 38 89 1.47244e-24 2.25401e-24 0.235728 1 0 MYOF 26509 broad.mit.edu 37 10 95157206 95157206 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:95157206G>A ENST00000371501.4 - 14 1351 c.1229C>T c.(1228-1230)aCa>aTa p.T410I MYOF_ENST00000358334.5_Missense_Mutation_p.T410I|MYOF_ENST00000371502.4_Missense_Mutation_p.T410I|MYOF_ENST00000359263.4_Missense_Mutation_p.T410I|MYOF_ENST00000371489.1_Missense_Mutation_p.T410I Q9NZM1 MYOF_HUMAN myoferlin 410 C2 3. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AATTATGTTTGTACAAACCTG 0.308000 5 30 0 0 0.184627 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31117661 31117661 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:31117661G>C ENST00000304166.4 + 4 502 c.213G>C c.(211-213)gaG>gaC p.E71D ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E71D|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.E71D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E71D NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 71 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 ATGTGGGTGAGATGGTCCTGG 0.602000 17 96 0 0 0.189662 0 0 OR52E2 119678 broad.mit.edu 37 11 5080793 5080793 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:5080793A>T ENST00000321522.2 - 1 64 c.65T>A c.(64-66)cTa>cAa p.L22Q NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AAGTGTTTCTAGTCCTGGGAT 0.483000 31 94 0 0 0.144211 0 0 CORIN 10699 broad.mit.edu 37 4 47746536 47746536 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:47746536C>A ENST00000273857.4 - 5 681 c.682G>T c.(682-684)Ggg>Tgg p.G228W CORIN_ENST00000504584.1_Missense_Mutation_p.G228W|CORIN_ENST00000505909.1_Missense_Mutation_p.G228W|CORIN_ENST00000508498.1_Missense_Mutation_p.G89W|CORIN_ENST00000502252.1_Missense_Mutation_p.G161W NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 228 FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTCACCATCCCCAGGACTGAT 0.448000 9 484 0.000978159 0.00104417 0.080935 1 0 ERN2 10595 broad.mit.edu 37 16 23712306 23712306 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:23712306C>A ENST00000256797.4 - 12 1645 c.1477G>T c.(1477-1479)Ggg>Tgg p.G493W ERN2_ENST00000457008.2_Intron NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 445 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGAATCCACCCTCCCAGGAGG 0.577000 24 56 5.45727e-16 7.80464e-16 0.134883 1 0 FGL2 10875 broad.mit.edu 37 7 76828787 76828787 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:76828787G>A ENST00000248598.5 - 1 356 c.324C>T c.(322-324)gaC>gaT p.D108D CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 108 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TTCTGCCTGGGTCTCCGTTGT 0.473000 29 62 0 0 0.125774 0 0 LPL 4023 broad.mit.edu 37 8 19813437 19813437 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:19813437G>T ENST00000311322.8 + 6 1331 c.861G>T c.(859-861)aaG>aaT p.K287N NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 287 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) ATCCAAGTAAGGCCTACAGGT 0.463000 6 112 0.00116845 0.00123218 0.217242 1 0 TXNDC11 51061 broad.mit.edu 37 16 11782159 11782159 + Splice_Site SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:11782159C>A ENST00000356957.3 - 10 2231 c.2124_splice c.e10+1 p.Q708_splice TXNDC11_ENST00000283033.5_Splice_Site_p.Q681_splice|TXNDC11_ENST00000570917.1_5'UTR Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 708 Thioredoxin 2. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GACTCCATACCTGTTTTTGAA 0.418000 18 124 1.45105e-14 2.03069e-14 0.175082 1 0 KRAS 3845 broad.mit.edu 37 12 25380276 25380276 + Missense_Mutation SNP T T A rs121913240 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:25380276T>A ENST00000311936.3 - 3 373 c.182A>T c.(181-183)cAa>cTa p.Q61L KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61L NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). 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 plasma membrane GTP binding|GTPase activity|protein binding p.Q61L(73)|p.Q61R(56)|p.Q61P(12) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GTACTCCTCTTGACCTGCTGT 0.418000 Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 31 0 0 0.146539 0 0 ITGA10 8515 broad.mit.edu 37 1 145528014 145528014 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:145528014C>T ENST00000369304.3 + 3 426 c.251C>T c.(250-252)gCc>gTc p.A84V ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 84 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCCCACAATGCCCCATGTGCC 0.602000 5 16 0 0 0.184627 0 0 C8orf74 203076 broad.mit.edu 37 8 10557779 10557779 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:10557779C>A ENST00000304519.5 + 4 712 c.683C>A c.(682-684)aCc>aAc p.T228N RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 228 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) GCAGTCCACACCCAGATGGAG 0.587000 8 21 3.07112e-06 3.5389e-06 0.080935 1 0 NEBL 10529 broad.mit.edu 37 10 21101754 21101754 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:21101754T>C ENST00000377122.4 - 24 2858 c.2462A>G c.(2461-2463)tAt>tGt p.Y821C NEBL_ENST00000417816.2_Missense_Mutation_p.Y158C|NEBL_ENST00000377159.4_Missense_Mutation_p.Y124C NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 821 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GACCCCTTTATAGGCAGCATC 0.527000 4 136 0 0 0.184627 0 0 OTOP1 133060 broad.mit.edu 37 4 4199344 4199344 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:4199344C>A ENST00000296358.4 - 5 1241 c.1217G>T c.(1216-1218)tGg>tTg p.W406L NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 406 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GATTGAGCCCCAGGAGATAAG 0.587000 10 29 7.48243e-07 8.81677e-07 0.058154 1 0 CDH20 28316 broad.mit.edu 37 18 59174687 59174687 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:59174687G>C ENST00000262717.4 + 6 1309 c.911G>C c.(910-912)gGc>gCc p.G304A CDH20_ENST00000538374.1_Missense_Mutation_p.G304A|CDH20_ENST00000536675.2_Missense_Mutation_p.G304A Q9HBT6 CAD20_HUMAN cadherin 20, type 2 304 Cadherin 3. 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) TTGGATGAAGGCATCAATGCA 0.438000 5 83 0 0 0.184627 0 0 VPRBP 9730 broad.mit.edu 37 3 51477789 51477789 + Nonsense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:51477789G>T ENST00000335891.5 - 5 515 c.506C>A c.(505-507)tCa>tAa p.S169* Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 169 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TACCAGCTGTGAATTTTCATC 0.373000 6 19 0.00116845 0.00123218 0.217242 1 0 FAM135B 51059 broad.mit.edu 37 8 139164170 139164170 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:139164170C>A ENST00000395297.1 - 13 2718 c.2548G>T c.(2548-2550)Ggg>Tgg p.G850W NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 850 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTCCCTTTCCCTTTGGGGATG 0.488000 HNSCC(54;0.14) 20 137 3.73194e-20 5.56592e-20 0.219247 1 0 PAFAH1B3 5050 broad.mit.edu 37 19 42804211 42804211 + Nonsense_Mutation SNP C C A rs145175030 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:42804211C>A ENST00000538771.1 - 5 675 c.319G>T c.(319-321)Gga>Tga p.G107* PAFAH1B3_ENST00000262890.3_Nonsense_Mutation_p.G107* NM_001145939.1|NM_001145940.1 NP_001139411.1|NP_001139412.1 Q15102 PA1B3_HUMAN platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) 107 lipid catabolic process|nervous system development cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding breast(1)|large_intestine(2)|ovary(1) 4 Prostate(69;0.0704) GCTGTGTGTCCGTGGTTGTTG 0.577000 34 31 2.87052e-16 4.12785e-16 0.225048 1 0 LPHN3 23284 broad.mit.edu 37 4 62542617 62542617 + Nonsense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:62542617A>T ENST00000512091.1 + 5 1090 c.343A>T c.(343-345)Aaa>Taa p.K115* LPHN3_ENST00000514591.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.K115*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.K183*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.K183* Q9HAR2 LPHN3_HUMAN latrophilin 3 115 SUEL-type lectin. 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 AGGAACCTATAAATACCTTGA 0.398000 7 210 0 0 0.038147 0 0 ERCC3 2071 broad.mit.edu 37 2 128016978 128016978 + Missense_Mutation SNP G G A rs4150521 byFrequency TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:128016978G>A ENST00000493187.2 - 14 2382 c.1919C>T c.(1918-1920)tCg>tTg p.S640L ERCC3_ENST00000285398.2_Missense_Mutation_p.S704L P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 704 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TTCTTTTGTCGAAAACGCCAA 0.567000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 95 0 0 0.184627 0 0 SGIP1 84251 broad.mit.edu 37 1 67105479 67105479 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:67105479C>A ENST00000371037.4 + 5 268 c.191C>A c.(190-192)cCa>cAa p.P64Q SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.P39Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.P40Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.P68Q NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 64 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AATGGGGCACCAAATGGATTT 0.299000 37 46 1.06522e-23 1.62112e-23 0.131918 1 0 ATP11A 23250 broad.mit.edu 37 13 113473716 113473716 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:113473716C>T ENST00000487903.1 + 7 757 c.669C>T c.(667-669)ctC>ctT p.L223L ATP11A_ENST00000375630.2_Silent_p.L223L|ATP11A_ENST00000283558.8_Silent_p.L223L|ATP11A_ENST00000375645.3_Silent_p.L223L P98196 AT11A_HUMAN ATPase, class VI, type 11A 223 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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_lung(25;0.134)|all_epithelial(44;0.141) AGCCCGACCTCTACAAGTAAG 0.532000 14 35 0 0 0.132662 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242008 87242008 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:87242008T>C ENST00000297524.3 - 1 602 c.499A>G c.(499-501)Aaa>Gaa p.K167E SLC7A13_ENST00000419776.2_Missense_Mutation_p.K167E|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 167 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 ATGGACACTTTCAGCACTGAG 0.418000 57 124 0 0 0.139131 0 0 MRM1 79922 broad.mit.edu 37 17 34964752 34964752 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:34964752A>T ENST00000250156.7 + 5 1202 c.963A>T c.(961-963)caA>caT p.Q321H MRM1_ENST00000585770.1_Missense_Mutation_p.Q126H NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 321 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) AGCTTCTCCAAGACCCCCAAG 0.562000 8 133 0 0 0.038147 0 0 LEPROTL1 23484 broad.mit.edu 37 8 29963354 29963354 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:29963354C>T ENST00000321250.8 + 4 487 c.372C>T c.(370-372)gaC>gaT p.D124D LEPROTL1_ENST00000442880.2_Intron|LEPROTL1_ENST00000518192.1_Silent_p.D147D|LEPROTL1_ENST00000523116.1_Intron|LEPROTL1_ENST00000518001.1_Silent_p.D63D NM_015344.2 NP_056159.2 O95214 LERL1_HUMAN leptin receptor overlapping transcript-like 1 124 integral to membrane endometrium(1)|kidney(1)|large_intestine(3) 5 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GAAGCAATGACGACTTCAGCT 0.448000 5 69 0 0 0.184627 0 0 CHRM5 1133 broad.mit.edu 37 15 34355078 34355078 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:34355078T>A ENST00000383263.5 + 3 830 c.160T>A c.(160-162)Tcc>Acc p.S54T CHRM5_ENST00000557872.1_Missense_Mutation_p.S54T NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 54 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GGTCATGATCTCCTTCAAAGT 0.478000 23 36 0 0 0.069288 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881213 228881213 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:228881213G>A ENST00000392056.3 - 7 4403 c.4357C>T c.(4357-4359)Cta>Tta p.L1453L SPHKAP_ENST00000344657.5_Silent_p.L1453L NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1453 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTCCTCTAGGAGGCTGCTT 0.493000 9 44 0 0 0.047766 0 0 IL20RA 53832 broad.mit.edu 37 6 137330566 137330566 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:137330566G>T ENST00000367748.1 - 3 720 c.134C>A c.(133-135)aCa>aAa p.T45K IL20RA_ENST00000367746.3_Missense_Mutation_p.T156K|IL20RA_ENST00000541547.1_Missense_Mutation_p.T107K|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.T156K Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 156 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CTCTGGAGCTGTCAGGACAAC 0.428000 18 63 5.03518e-11 6.62057e-11 0.189662 1 0 WBP5 51186 broad.mit.edu 37 X 102612685 102612685 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:102612685C>A ENST00000372661.3 + 3 384 c.73C>A c.(73-75)Cct>Act p.P25T WBP5_ENST00000372656.3_Missense_Mutation_p.P25T NM_001006612.1|NM_016303.2 NP_001006613.1|NP_057387.1 Q9UHQ7 WPB5_HUMAN WW domain binding protein 5 25 Glu-rich. breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1) 8 AGAGCCAAAGCCTGAGGAAAA 0.433000 15 83 1.49906e-05 1.67561e-05 0.119110 1 0 TPTE 7179 broad.mit.edu 37 21 10941970 10941970 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:10941970G>T ENST00000298232.7 - 13 1046 c.679C>A c.(679-681)Cgt>Agt p.R227S TPTE_ENST00000342420.5_Missense_Mutation_p.R207S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R245S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 245 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) GCAATAATACGTTCTAAAAGT 0.289000 10 138 1.58986e-06 1.86078e-06 0.069234 1 0 VANGL2 57216 broad.mit.edu 37 1 160395115 160395115 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:160395115G>T ENST00000368061.2 + 8 1987 c.1513G>T c.(1513-1515)Gat>Tat p.D505Y NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 505 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAATTTGTGGATCCCAAGTC 0.537000 53 194 3.8688e-20 5.75361e-20 0.139131 1 0 GALNT14 79623 broad.mit.edu 37 2 31178601 31178601 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:31178601C>T ENST00000349752.5 - 6 1176 c.537G>A c.(535-537)ctG>ctA p.L179L GALNT14_ENST00000324589.5_Silent_p.L184L|GALNT14_ENST00000420311.2_Silent_p.L144L|GALNT14_ENST00000406653.1_Silent_p.L159L|GALNT14_ENST00000356174.3_Silent_p.L146L NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 179 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GGGACCGGACCAGACCTGCAG 0.607000 28 136 0 0 0.116897 0 0 OVOL2 58495 broad.mit.edu 37 20 18005403 18005403 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:18005403A>T ENST00000278780.6 - 4 947 c.705T>A c.(703-705)agT>agA p.S235R OVOL2_ENST00000483661.1_5'UTR NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 235 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 CCGGATGGGCACTGTTCACGT 0.572000 8 14 0 0 0.038147 0 0 ZNF654 55279 broad.mit.edu 37 3 88188579 88188579 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:88188579T>C ENST00000309495.5 + 1 326 c.119T>C c.(118-120)aTg>aCg p.M40T CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AGAGGACTTATGCAGAAGCAT 0.393000 12 74 0 0 0.105934 0 0 PRCP 5547 broad.mit.edu 37 11 82560238 82560238 + Silent SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:82560238A>C ENST00000313010.3 - 6 968 c.774T>G c.(772-774)acT>acG p.T258T PRCP_ENST00000535099.1_Silent_p.T153T|PRCP_ENST00000393399.2_Silent_p.T279T NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 258 SKS domain. blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GAAGGGCTCCAGTAAGCCACT 0.428000 43 80 0 0 0.131918 0 0 CDH3 1001 broad.mit.edu 37 16 68712778 68712778 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:68712778C>T ENST00000264012.4 + 6 1204 c.660C>T c.(658-660)ttC>ttT p.F220F CDH3_ENST00000581171.1_Silent_p.F165F|CDH3_ENST00000429102.2_Silent_p.F220F NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 220 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGGACACCTTCCGAGGGAGTG 0.552000 3 9 0 0 0.150653 0 0 HMCN1 83872 broad.mit.edu 37 1 186077690 186077690 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:186077690A>T ENST00000271588.4 + 71 11179 c.10950A>T c.(10948-10950)ccA>ccT p.P3650P HMCN1_ENST00000367492.2_Silent_p.P3650P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3650 Ig-like C2-type 35. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGTGCCCCCACCTGTAATTA 0.413000 26 93 0 0 0.125774 0 0 RNF103 7844 broad.mit.edu 37 2 86847582 86847582 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:86847582C>A ENST00000237455.4 - 2 1205 c.237G>T c.(235-237)atG>atT p.M79I RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Start_Codon_SNP_p.M1I|CHMP3_ENST00000439940.2_Start_Codon_SNP_p.M1I NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 79 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 GCTCACCCTCCATCAAGTCAC 0.383000 8 33 1.06961e-07 1.28354e-07 0.038147 1 0 ZNF716 441234 broad.mit.edu 37 7 57528450 57528450 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:57528450C>A ENST00000420713.1 + 4 395 c.283C>A c.(283-285)Caa>Aaa p.Q95K NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TCATTTCACCCAAGACCTTCA 0.318000 5 63 5.9392e-07 7.01417e-07 0.217242 1 0 ALDH1B1 219 broad.mit.edu 37 9 38396569 38396569 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:38396569G>T ENST00000377698.3 + 2 977 c.824G>T c.(823-825)gGc>gTc p.G275V NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 275 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity p.G275D(1) NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AAAGCAGCTGGCGATTCCAAC 0.617000 17 39 1.67942e-08 2.05788e-08 0.175082 1 0 PKLR 5313 broad.mit.edu 37 1 155264135 155264135 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:155264135G>T ENST00000392414.3 - 7 1027 c.914C>A c.(913-915)gCa>gAa p.A305E PKLR_ENST00000342741.4_Missense_Mutation_p.A336E NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 336 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GTCCCCCCGTGCCACCATGAT 0.552000 11 122 1.11149e-13 1.54308e-13 0.069234 1 0 SLC39A14 23516 broad.mit.edu 37 8 22273459 22273459 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:22273459C>T ENST00000359741.5 + 6 1103 c.928C>T c.(928-930)Ctc>Ttc p.L310F SLC39A14_ENST00000240095.6_Missense_Mutation_p.L310F|SLC39A14_ENST00000289952.5_Missense_Mutation_p.L310F|SLC39A14_ENST00000381237.1_Missense_Mutation_p.L310F NM_015359.4 NP_056174.2 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 310 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) TGTGGGCTCGCTCTCTGTGCA 0.602000 6 18 0 0 0.217242 0 0 ZNF697 90874 broad.mit.edu 37 1 120166626 120166626 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:120166626G>A ENST00000421812.2 - 3 459 c.340C>T c.(340-342)Cgg>Tgg p.R114W NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) CGGAGGCTCCGGGATATGCTG 0.612000 17 22 0 0 0.146539 0 0 SP1 6667 broad.mit.edu 37 12 53775908 53775908 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:53775908C>T ENST00000426431.2 + 3 216 c.156C>T c.(154-156)tcC>tcT p.S52S SP1_ENST00000327443.4_Silent_p.S59S NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 59 Repressor domain.|Ser/Thr-rich. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CCCAGCCATCCCCTTTGGCTC 0.547000 OREG0021870 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 11 0 0 0.047766 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872217 51872217 + Silent SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:51872217G>C ENST00000371497.5 + 2 3107 c.2220G>C c.(2218-2220)ccG>ccC p.P740P TSHZ2_ENST00000329613.6_Silent_p.P737P|TSHZ2_ENST00000603338.2_Silent_p.P737P NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 740 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGGACAAGCCGGTCTTGAGTC 0.542000 34 47 0 0 0.203993 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786048 19786048 + Missense_Mutation SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:19786048A>C ENST00000341998.2 - 1 878 c.817T>G c.(817-819)Tat>Gat p.Y273D SLC24A2_ENST00000286344.3_Missense_Mutation_p.Y273D NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 273 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TAGCAAAAATAAGCTGTTAAG 0.388000 21 51 0 0 0.219247 0 0 LPAL2 80350 broad.mit.edu 37 6 160903809 160903809 + RNA SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:160903809C>A ENST00000335388.5 - 0 1074 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) CTGTCCATTACCGTGGTAGCA 0.478000 25 166 7.33532e-06 8.28796e-06 0.091800 1 0 SALL4 57167 broad.mit.edu 37 20 50407375 50407375 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:50407375C>T ENST00000217086.4 - 2 1758 c.1647G>A c.(1645-1647)ctG>ctA p.L549L SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 549 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCTGCAATTTCAGGGTCTCTG 0.557000 5 75 0 0 0.217242 0 0 PREX2 80243 broad.mit.edu 37 8 68934373 68934373 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:68934373T>A ENST00000288368.4 + 4 716 c.439T>A c.(439-441)Ttg>Atg p.L147M PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 147 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GACATTTCTTTTGGTAAGTGT 0.338000 8 73 0 0 0.038147 0 0 KCNK2 3776 broad.mit.edu 37 1 215342563 215342563 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:215342563G>T ENST00000444842.2 + 4 647 c.497G>T c.(496-498)cGc>cTc p.R166L KCNK2_ENST00000391895.2_Missense_Mutation_p.R162L|KCNK2_ENST00000391894.2_Missense_Mutation_p.R151L NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 166 outward rectifier potassium channel activity p.R166L(1)|p.R151L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATCTCACCACGCACAGAAGGC 0.368000 22 266 9.86323e-18 1.43816e-17 0.091800 1 0 RPH3A 22895 broad.mit.edu 37 12 113307819 113307819 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:113307819T>A ENST00000389385.4 + 10 1268 c.771T>A c.(769-771)gcT>gcA p.A257A RPH3A_ENST00000543106.2_Silent_p.A257A|RPH3A_ENST00000447659.2_Silent_p.A208A|RPH3A_ENST00000415485.3_Silent_p.A257A|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.A257A|RPH3A_ENST00000551052.1_Silent_p.A253A|RPH3A_ENST00000548866.1_Silent_p.A208A NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 257 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GTGGGGGTGCTGGAGACTCCA 0.582000 14 26 0 0 0.175082 0 0 DNMT1 1786 broad.mit.edu 37 19 10257064 10257064 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:10257064C>A ENST00000340748.4 - 27 3044 c.2809G>T c.(2809-2811)Gat>Tat p.D937Y DNMT1_ENST00000359526.4_Missense_Mutation_p.D953Y|DNMT1_ENST00000540357.1_Missense_Mutation_p.D937Y P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 937 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TACACACCATCACCAACTCGG 0.617000 9 14 2.17888e-05 2.41994e-05 0.058154 1 0 ATM 472 broad.mit.edu 37 11 108205807 108205807 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:108205807G>A ENST00000278616.4 + 55 8507 c.8122G>A c.(8122-8124)Gat>Aat p.D2708N C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2708N NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2708 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.D2708N(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGTAGGTTCCGATGGCAAGGA 0.378000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 24 19 0 0 0.076483 0 0 MUC16 94025 broad.mit.edu 37 19 9089919 9089919 + Silent SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:9089919T>G ENST00000397910.4 - 1 2099 c.1896A>C c.(1894-1896)gcA>gcC p.A632A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 632 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCAGATGATGCTGTGGCTC 0.582000 49 210 0 0 0.139131 0 0 AKR7A3 22977 broad.mit.edu 37 1 19612451 19612451 + Silent SNP T T G rs139064823 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:19612451T>G ENST00000361640.4 - 3 978 c.438A>C c.(436-438)gcA>gcC p.A146A NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 146 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTTCCCAGGCTGCATAGTTGG 0.607000 3 15 0 0 0.150653 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627822 43627822 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:43627822T>A ENST00000332857.6 - 4 893 c.865A>T c.(865-867)Acc>Tcc p.T289S SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GCGCACGAGGTTCTGGCAGTC 0.557000 8 156 0 0 0.069234 0 0 PXDNL 137902 broad.mit.edu 37 8 52284605 52284605 + Silent SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:52284605T>G ENST00000356297.4 - 19 3829 c.3729A>C c.(3727-3729)gcA>gcC p.A1243A PXDNL_ENST00000543296.1_Silent_p.A1243A NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1243 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GAGTGAGTTGTGCCGGGGTAA 0.498000 3 24 0 0 0.150653 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569691 61569691 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:61569691A>T ENST00000457692.1 + 8 1065 c.732A>T c.(730-732)ggA>ggT p.G244G SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.G244G NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 244 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TAAACATTGGATACATAGAAG 0.388000 10 57 0 0 0.080935 0 0 ZNF418 147686 broad.mit.edu 37 19 58438098 58438098 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:58438098C>A ENST00000396147.1 - 4 1742 c.1451G>T c.(1450-1452)tGt>tTt p.C484F ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.C505F|ZNF418_ENST00000595830.1_Missense_Mutation_p.C484F|ZNF418_ENST00000599852.1_Missense_Mutation_p.C399F NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) ACATTCATTACATTCATATGG 0.433000 13 103 0.00244969 0.00256261 0.119110 1 0 VMO1 284013 broad.mit.edu 37 17 4688821 4688821 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:4688821C>T ENST00000328739.5 - 3 524 c.445G>A c.(445-447)Ggc>Agc p.G149S VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000416307.2_3'UTR NM_182566.2 NP_872372.1 Q7Z5L0 VMO1_HUMAN vitelline membrane outer layer 1 homolog (chicken) 149 vitelline membrane formation extracellular region kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1) 11 AGTTCCTCGCCGTCTGAACAG 0.652000 3 53 0 0 0.150653 0 0 GRB14 2888 broad.mit.edu 37 2 165404188 165404188 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:165404188G>A ENST00000263915.3 - 3 1001 c.463C>T c.(463-465)Ctg>Ttg p.L155L GRB14_ENST00000543549.1_Silent_p.L68L NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 155 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 ATGTGAGGCAGGTGCTCAAAA 0.418000 14 67 0 0 0.119110 0 0 WIPI2 26100 broad.mit.edu 37 7 5266848 5266848 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:5266848G>T ENST00000288828.4 + 10 1118 c.886G>T c.(886-888)Ggg>Tgg p.G296W WIPI2_ENST00000484262.1_Missense_Mutation_p.G237W|WIPI2_ENST00000382384.2_Missense_Mutation_p.G278W|WIPI2_ENST00000404704.3_Missense_Mutation_p.G296W|WIPI2_ENST00000401525.3_Missense_Mutation_p.G278W NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 296 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) CGGGTACTTCGGGAAAGTGCT 0.632000 8 13 0.000274275 0.000296422 0.047766 1 0 RNF150 57484 broad.mit.edu 37 4 141789440 141789440 + Missense_Mutation SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:141789440T>G ENST00000306799.3 - 7 1819 c.1166A>C c.(1165-1167)cAg>cCg p.Q389P RNF150_ENST00000379512.2_Missense_Mutation_p.Q290P|RNF150_ENST00000420921.2_Missense_Mutation_p.Q290P|RNF150_ENST00000515673.1_Missense_Mutation_p.Q431P NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 431 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TTCACAGTCCTGGTCAGTGGA 0.478000 9 36 0 0 0.058154 0 0 CPT1C 126129 broad.mit.edu 37 19 50209333 50209333 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:50209333C>A ENST00000392518.4 + 11 1504 c.1132C>A c.(1132-1134)Cat>Aat p.H378N CPT1C_ENST00000323446.5_Missense_Mutation_p.H378N|CPT1C_ENST00000598293.1_Missense_Mutation_p.H378N|CPT1C_ENST00000405931.2_Missense_Mutation_p.H367N|CPT1C_ENST00000354199.5_Missense_Mutation_p.H378N NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 378 HEEH -> RTRG (in Ref. 6; CAD38561). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CCACGAGGAACATCTGGCAGC 0.637000 5 28 0.0293803 0.0303094 0.029380 1 0 SPAM1 6677 broad.mit.edu 37 7 123593676 123593676 + Missense_Mutation SNP A A C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:123593676A>C ENST00000340011.5 + 3 409 c.52A>C c.(52-54)Agt>Cgt p.S18R SPAM1_ENST00000223028.7_Missense_Mutation_p.S18R|SPAM1_ENST00000402183.2_Missense_Mutation_p.S18R|SPAM1_ENST00000439500.1_Missense_Mutation_p.S18R|SPAM1_ENST00000460182.1_Missense_Mutation_p.S18R NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 18 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TGTTAAATCAAGTGGAGTATC 0.373000 4 54 0 0 0.184627 0 0 MMP2 4313 broad.mit.edu 37 16 55525796 55525796 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:55525796G>T ENST00000219070.4 + 8 1773 c.1264G>T c.(1264-1266)Gca>Tca p.A422S MMP2_ENST00000570308.1_Missense_Mutation_p.A346S|MMP2_ENST00000437642.2_Missense_Mutation_p.A372S|MMP2_ENST00000543485.1_Missense_Mutation_p.A346S NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 422 Collagenase-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GGCCCTGATGGCACCCATTTA 0.612000 15 90 1.3612e-06 1.59674e-06 0.132662 1 0 SEMA5A 9037 broad.mit.edu 37 5 9119214 9119214 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:9119214G>A ENST00000382496.5 - 15 2486 c.1821C>T c.(1819-1821)tgC>tgT p.C607C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 607 TSP type-1 2. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AGGTAGTGCTGCAGGGAGACC 0.652000 4 12 0 0 0.150653 0 0 LAX1 54900 broad.mit.edu 37 1 203743159 203743159 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:203743159G>A ENST00000442561.2 + 5 937 c.547G>A c.(547-549)Gca>Aca p.A183T LAX1_ENST00000367217.5_Missense_Mutation_p.A167T|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 183 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CAGAGACTGCGCAAGCATTTC 0.507000 13 104 0 0 0.093190 0 0 FNIP2 57600 broad.mit.edu 37 4 159791535 159791535 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:159791535T>C ENST00000264433.6 + 14 2938 c.2863T>C c.(2863-2865)Tac>Cac p.Y955H FNIP2_ENST00000379346.3_Missense_Mutation_p.Y978H NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 955 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CTGCCCCACATACATGCCTGA 0.527000 18 47 0 0 0.189662 0 0 SYNE2 23224 broad.mit.edu 37 14 64443330 64443330 + Missense_Mutation SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:64443330A>G ENST00000358025.3 + 12 1408 c.1178A>G c.(1177-1179)cAt>cGt p.H393R SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.H393R|SYNE2_ENST00000554584.1_Missense_Mutation_p.H393R NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 393 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCACCCCTCCATCAAACTGAA 0.393000 14 209 0 0 0.119110 0 0 LRIT2 340745 broad.mit.edu 37 10 85984731 85984731 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:85984731G>A ENST00000372113.4 - 2 255 c.250C>T c.(250-252)Ctc>Ttc p.L84F LRIT2_ENST00000538192.1_Missense_Mutation_p.L84F NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 84 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TTGAGCCAGAGGTATTCCAAG 0.473000 22 86 0 0 0.069288 0 0 WDR16 146845 broad.mit.edu 37 17 9501582 9501582 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:9501582C>T ENST00000352665.5 + 5 637 c.568C>T c.(568-570)Cca>Tca p.P190S WDR16_ENST00000299764.5_Missense_Mutation_p.P200S|WDR16_ENST00000396219.3_Missense_Mutation_p.P122S NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 190 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 ATTGGATCTTCCAAATAGAAA 0.323000 5 40 0 0 0.217242 0 0 C17orf47 284083 broad.mit.edu 37 17 56620020 56620020 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:56620020G>A ENST00000321691.3 - 1 1709 c.1528C>T c.(1528-1530)Caa>Taa p.Q510* RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 510 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAATGGGTTGTTTGCAGGTG 0.527000 67 111 0 0 0.139131 0 0 CNNM4 26504 broad.mit.edu 37 2 97474331 97474331 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:97474331G>T ENST00000377075.2 + 6 2080 c.1982G>T c.(1981-1983)cGc>cTc p.R661L CNNM4_ENST00000540067.1_Missense_Mutation_p.R148L|CNNM4_ENST00000496186.1_3'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 661 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CCACTCAGCCGCTCAGCCTCC 0.612000 12 24 0.00185496 0.00194827 0.105934 1 0 LDB2 9079 broad.mit.edu 37 4 16760835 16760835 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:16760835C>A ENST00000502640.1 - 2 329 c.181G>T c.(181-183)Gat>Tat p.D61Y LDB2_ENST00000304523.5_Missense_Mutation_p.D61Y|LDB2_ENST00000515064.1_Missense_Mutation_p.D61Y|LDB2_ENST00000441778.2_Missense_Mutation_p.D61Y O43679 LDB2_HUMAN LIM domain binding 2 61 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GTGGCGTCATCTTCAAAAAAT 0.383000 24 82 4.26978e-12 5.70032e-12 0.083992 1 0 CTPS1 1503 broad.mit.edu 37 1 41457512 41457512 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:41457512G>C ENST00000372621.4 + 7 1223 c.715G>C c.(715-717)Gaa>Caa p.E239Q CTPS1_ENST00000372616.1_Missense_Mutation_p.E239Q|CTPS1_ENST00000541520.1_Missense_Mutation_p.E8Q|CTPS1_ENST00000543104.1_Missense_Mutation_p.E246Q NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 239 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) TGTTGAGCCTGAACAAGTGAG 0.383000 9 58 0 0 0.069234 0 0 ZNF83 55769 broad.mit.edu 37 19 53117519 53117519 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:53117519T>A ENST00000597597.1 - 2 2552 c.299A>T c.(298-300)aAg>aTg p.K100M ZNF83_ENST00000545872.1_Missense_Mutation_p.K100M|ZNF83_ENST00000301096.3_Missense_Mutation_p.K100M|ZNF83_ENST00000544146.1_Missense_Mutation_p.K100M|ZNF83_ENST00000541777.2_Missense_Mutation_p.K100M|ZNF83_ENST00000391789.4_Missense_Mutation_p.K100M|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.K100M P51522 ZNF83_HUMAN zinc finger protein 83 100 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) ATGAAAGGCCTTGCCACGCTC 0.313000 20 86 0 0 0.091800 0 0 THRAP3 9967 broad.mit.edu 37 1 36748202 36748202 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:36748202C>G ENST00000354618.5 + 3 262 c.38C>G c.(37-39)tCt>tGt p.S13C THRAP3_ENST00000469141.2_Missense_Mutation_p.S13C NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 13 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGATCTCGCTCTTCTCGCTCA 0.438000 T USP6 aneurysmal bone cysts 6 37 0 0 0.217242 0 0 NUP205 23165 broad.mit.edu 37 7 135323374 135323374 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:135323374G>T ENST00000285968.6 + 38 5361 c.5335G>T c.(5335-5337)Gtg>Ttg p.V1779L NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1779 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CCAGCATGCTGTGTGTCTCTT 0.393000 24 119 1.85244e-09 2.34134e-09 0.083992 1 0 WDR25 79446 broad.mit.edu 37 14 100934399 100934399 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:100934399C>T ENST00000335290.6 + 3 1090 c.864C>T c.(862-864)taC>taT p.Y288Y WDR25_ENST00000542471.2_Silent_p.Y31Y|WDR25_ENST00000554998.1_Silent_p.Y288Y|WDR25_ENST00000402312.3_Silent_p.Y288Y NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 288 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) TGCAGACCTACTCCCTGCACA 0.637000 7 46 0 0 0.038147 0 0 LARP1 23367 broad.mit.edu 37 5 154173195 154173195 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:154173195G>T ENST00000336314.4 + 5 573 c.549G>T c.(547-549)aaG>aaT p.K183N NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 260 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TAGACATGAAGCCTGAAGTGC 0.537000 15 201 9.16793e-09 1.13944e-08 0.160694 1 0 WNK3 65267 broad.mit.edu 37 X 54337551 54337551 + Splice_Site SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:54337551C>T ENST00000354646.2 - 3 1149 c.e3+1 WNK3_ENST00000375169.3_Splice_Site|WNK3_ENST00000375159.2_Splice_Site NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGTCAACTTACGTCTTTAAGG 0.289000 6 6 0 0 0.217242 0 0 RAG2 5897 broad.mit.edu 37 11 36614149 36614149 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:36614149T>A ENST00000311485.3 - 2 1731 c.1570A>T c.(1570-1572)Agg>Tgg p.R524W NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 524 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TCAAACAACCTTCTAAGAAAG 0.323000 Familial Hemophagocytic Lymphohistiocytosis 4 26 0 0 0.150653 0 0 SETD2 29072 broad.mit.edu 37 3 47098503 47098503 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:47098503C>T ENST00000409792.3 - 15 6813 c.6771G>A c.(6769-6771)ttG>ttA p.L2257L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2257 Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCGGCACTGGCAAGACAGCAA 0.542000 """N, F, S, Mis""" clear cell renal carcinoma 5 18 0 0 0.217242 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856868 62856868 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:62856868T>A ENST00000584306.1 - 11 3926 c.3396A>T c.(3394-3396)ctA>ctT p.L1132L LRRC37A3_ENST00000400877.3_Silent_p.L170L|LRRC37A3_ENST00000339474.5_Silent_p.L250L|LRRC37A3_ENST00000319651.5_Silent_p.L1132L|LRRC37A3_ENST00000334962.5_Silent_p.L109L NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1132 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ATTTCACATCTAGGTTAACGG 0.433000 32 210 0 0 0.144211 0 0 CLCN1 1180 broad.mit.edu 37 7 143047738 143047738 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:143047738C>T ENST00000343257.2 + 22 2673 c.2586C>T c.(2584-2586)gcC>gcT p.A862A NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 862 CBS 2. muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCGTCCTGGCCCTGGAGGAGG 0.557000 68 134 0 0 0.139131 0 0 SZT2 23334 broad.mit.edu 37 1 43894141 43894141 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:43894141C>A ENST00000562955.1 + 27 3979 c.3979C>A c.(3979-3981)Cta>Ata p.L1327I SZT2_ENST00000372442.1_Missense_Mutation_p.L485I NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1384 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACGAGCTATCCTAGCTTCTGA 0.537000 5 76 0.014758 0.0153154 0.184627 1 0 MASTL 84930 broad.mit.edu 37 10 27475433 27475433 + Nonsense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:27475433C>T ENST00000375946.4 + 12 3208 c.2605C>T c.(2605-2607)Cag>Tag p.Q869* MASTL_ENST00000342386.6_Nonsense_Mutation_p.Q831*|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Nonsense_Mutation_p.Q870* NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 870 AGC-kinase C-terminal. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity p.Q869K(1) breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAATACTGCTCAGCACCTGAC 0.398000 23 135 0 0 0.076483 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182233 140182233 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:140182233C>A ENST00000522353.2 + 1 1451 c.1451C>A c.(1450-1452)gCg>gAg p.A484E PCDHA3_ENST00000532566.2_Missense_Mutation_p.A484E|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCGGACGCGCAGGAGAAC 0.667000 22 18 5.61819e-17 8.14637e-17 0.108266 1 0 TREML2 79865 broad.mit.edu 37 6 41166027 41166027 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:41166027C>G ENST00000483722.1 - 2 381 c.196G>C c.(196-198)Ggc>Cgc p.G66R NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 66 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CGGGCAAAGCCAGGCTCACAC 0.567000 47 78 0 0 0.139131 0 0 KLHL4 56062 broad.mit.edu 37 X 86877378 86877378 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:86877378G>T ENST00000373119.4 + 5 1237 c.1092G>T c.(1090-1092)ctG>ctT p.L364L KLHL4_ENST00000373114.4_Silent_p.L364L NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 364 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAGGAGAACTGGGGATGCTGC 0.433000 17 116 3.52763e-06 4.04709e-06 0.160694 1 0 CDH20 28316 broad.mit.edu 37 18 59206373 59206373 + Nonsense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:59206373G>T ENST00000262717.4 + 9 1923 c.1525G>T c.(1525-1527)Gga>Tga p.G509* CDH20_ENST00000538374.1_Nonsense_Mutation_p.G509*|CDH20_ENST00000536675.2_Nonsense_Mutation_p.G509* Q9HBT6 CAD20_HUMAN cadherin 20, type 2 509 Cadherin 5. 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) CGCCAAGGCAGGACAGGTAAG 0.448000 19 41 4.96729e-08 6.01607e-08 0.204396 1 0 HPS5 11234 broad.mit.edu 37 11 18313428 18313428 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:18313428C>A ENST00000396253.3 - 15 2121 c.1659G>T c.(1657-1659)atG>atT p.M553I HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.M553I|HPS5_ENST00000349215.3_Missense_Mutation_p.M667I NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 667 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GGTTCAATTTCATGGATGAGT 0.338000 Hermansky-Pudlak syndrome 22 79 2.39556e-15 3.38885e-15 0.076483 1 0 SCN10A 6336 broad.mit.edu 37 3 38770317 38770317 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:38770317C>A ENST00000449082.2 - 15 2355 c.2356G>T c.(2356-2358)Gca>Tca p.A786S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 786 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) TTCCCCAGTGCCCCCACTGAG 0.512000 17 69 1.67942e-08 2.05788e-08 0.175082 1 0 MMP14 4323 broad.mit.edu 37 14 23313044 23313044 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:23313044G>A ENST00000311852.6 + 6 1237 c.976G>A c.(976-978)Gtg>Atg p.V326M MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 326 Hemopexin-like 1. extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CTTTGACACCGTGGCCATGCT 0.557000 4 23 0 0 0.150653 0 0 PTPN9 5780 broad.mit.edu 37 15 75761285 75761285 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:75761285T>C ENST00000306726.2 - 13 2119 c.1607A>G c.(1606-1608)gAg>gGg p.E536G NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 536 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GCCAAGCTCCTCCAGCTGTGC 0.522000 14 19 0 0 0.146539 0 0 SLC27A6 28965 broad.mit.edu 37 5 128320947 128320947 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:128320947T>A ENST00000262462.4 + 2 1613 c.603T>A c.(601-603)ccT>ccA p.P201P SLC27A6_ENST00000395266.1_Silent_p.P201P|SLC27A6_ENST00000506176.1_Silent_p.P201P Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 201 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GCACCTCACCTGATGAGCCCG 0.428000 4 32 0 0 0.184627 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805815 20805815 + RNA SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:20805815C>A ENST00000577537.1 + 0 999 RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA TTTTCCTGCCCTTCTGAAACT 0.512000 16 37 2.48551e-13 3.38756e-13 0.160694 1 0 AHNAK2 113146 broad.mit.edu 37 14 105410043 105410043 + Silent SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:105410043T>C ENST00000333244.5 - 7 11864 c.11745A>G c.(11743-11745)ctA>ctG p.L3915L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3915 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGGGTCTTTTAGGTCCAGCT 0.587000 5 60 0 0 0.184627 0 0 USP47 55031 broad.mit.edu 37 11 11926949 11926949 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:11926949G>A ENST00000339865.5 + 7 1382 c.619G>A c.(619-621)Gat>Aat p.D207N USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.D295N|USP47_ENST00000527733.1_Missense_Mutation_p.D275N NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 295 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) TTTTTAGGCTGATCTTATAAA 0.323000 8 19 0 0 0.038147 0 0 TRAM2 9697 broad.mit.edu 37 6 52369391 52369391 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:52369391G>C ENST00000182527.3 - 10 1036 c.1037C>G c.(1036-1038)tCt>tGt p.S346C EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 346 collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) GCACTCACCAGATTCCCTCTT 0.622000 16 20 0 0 0.189662 0 0 NTNG1 22854 broad.mit.edu 37 1 107979286 107979286 + Splice_Site SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:107979286G>T ENST00000370068.1 + 7 2101 c.e7-1 NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370073.2_Splice_Site|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Splice_Site|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370061.3_Splice_Site|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370067.1_Intron Q9Y2I2 NTNG1_HUMAN netrin G1 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TGTTTCTACAGAGTGTTATTG 0.438000 15 59 2.35188e-11 3.10806e-11 0.175082 1 0 CLIP1 6249 broad.mit.edu 37 12 122826219 122826219 + Missense_Mutation SNP C C A rs145140413 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:122826219C>A ENST00000358808.2 - 10 1653 c.1499G>T c.(1498-1500)cGt>cTt p.R500L CLIP1_ENST00000545889.1_Missense_Mutation_p.R201L|CLIP1_ENST00000540338.1_Missense_Mutation_p.R511L|CLIP1_ENST00000537178.1_Missense_Mutation_p.R465L|CLIP1_ENST00000361654.4_Missense_Mutation_p.R465L|CLIP1_ENST00000302528.7_Missense_Mutation_p.R500L NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 511 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTCCATTATACGTGACTTTTC 0.383000 23 39 1.64293e-13 2.26881e-13 0.083992 1 0 NOL6 65083 broad.mit.edu 37 9 33467824 33467824 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:33467824C>T ENST00000379471.2 - 12 1554 c.1467G>A c.(1465-1467)ctG>ctA p.L489L NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L437L Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 489 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GCCAGAGCTTCAGCCGGTGGC 0.642000 5 8 0 0 0.217242 0 0 MT-CO3 4514 broad.mit.edu 37 MT 9380 9380 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrM:9380G>A ENST00000362079.2 + 1 174 c.174G>A c.(172-174)tgG>tgA p.58_58ins* mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 TACCAATGGTGGCGCGATGTA 0.473000 13 592 0 0 0.105934 0 0 COBL 23242 broad.mit.edu 37 7 51095701 51095701 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:51095701G>C ENST00000395542.2 - 12 3522 c.3338C>G c.(3337-3339)gCc>gGc p.A1113G COBL_ENST00000265136.7_Missense_Mutation_p.A1031G O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1031 WH2 1. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CCTGCTGCAGGCCTGAGTGTC 0.622000 18 23 0 0 0.204396 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290725 141290725 + Missense_Mutation SNP G G C rs150181121 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:141290725G>C ENST00000247452.3 - 3 1396 c.1049C>G c.(1048-1050)aCc>aGc p.T350S NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 350 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) ATCATCTGCGGTATCAATTGT 0.468000 HNSCC(46;0.14) 50 302 0 0 0.139131 0 0 SCAF8 22828 broad.mit.edu 37 6 155129873 155129873 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:155129873A>G ENST00000367178.3 + 11 1743 c.1167A>G c.(1165-1167)caA>caG p.Q389Q SCAF8_ENST00000417268.1_Silent_p.Q389Q|SCAF8_ENST00000367186.4_Silent_p.Q455Q NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 389 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 TCTTTGAACAAGAAGCTAAGA 0.403000 29 42 0 0 0.104719 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559701 140559701 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:140559701G>T ENST00000239444.2 + 1 2331 c.2086G>T c.(2086-2088)Gcc>Tcc p.A696S NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 696 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGCGTTGGCCTCGGTGTC 0.682000 39 47 7.05121e-23 1.06688e-22 0.117977 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98411325 98411325 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:98411325T>C ENST00000339364.5 - 5 915 c.796A>G c.(796-798)Atg>Gtg p.M266V PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.M88V NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 266 DBB. cytoplasm|plasma membrane p.M266V(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ATTTCTTCCATGTCAGTATAA 0.398000 3 39 0 0 0.115264 0 0 CCDC181 57821 broad.mit.edu 37 1 169366528 169366528 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:169366528C>A ENST00000545005.1 - 6 1821 c.1314G>T c.(1312-1314)gaG>gaT p.E438D CCDC181_ENST00000367806.3_Missense_Mutation_p.E439D|CCDC181_ENST00000367805.3_Missense_Mutation_p.E438D coiled-coil domain containing 181 ATAAACATTCCTCTTGCTTTC 0.418000 16 51 3.41278e-10 4.40959e-10 0.160694 1 0 GABRG1 2565 broad.mit.edu 37 4 46053559 46053559 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:46053559G>C ENST00000295452.4 - 8 1180 c.1013C>G c.(1012-1014)tCt>tGt p.S338C NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 338 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GAAACAAACAGAAACAAAGAG 0.378000 31 111 0 0 0.163468 0 0 KCNV1 27012 broad.mit.edu 37 8 110984867 110984867 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:110984867C>A ENST00000524391.1 - 3 1643 c.611G>T c.(610-612)gGa>gTa p.G204V KCNV1_ENST00000297404.1_Missense_Mutation_p.G204V Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 204 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGTGGAAGATCCAGGTTTCTC 0.502000 20 41 6.44725e-10 8.24869e-10 0.069288 1 0 DST 667 broad.mit.edu 37 6 56457000 56457000 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:56457000T>C ENST00000370754.5 - 49 12789 c.12790A>G c.(12790-12792)Agg>Ggg p.R4264G DST_ENST00000361203.3_Missense_Mutation_p.R4084G|DST_ENST00000244364.6_Missense_Mutation_p.R1672G|DST_ENST00000312431.6_Missense_Mutation_p.R4084G|DST_ENST00000421834.2_Missense_Mutation_p.R1998G|DST_ENST00000370788.2_Missense_Mutation_p.R1998G|DST_ENST00000446842.2_Missense_Mutation_p.R3760G|DST_ENST00000370769.4_Missense_Mutation_p.R4086G Q03001 DYST_HUMAN dystonin 4084 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTAATTGCCTTTGAAGATTT 0.443000 7 66 0 0 0.058154 0 0 TMTC3 160418 broad.mit.edu 37 12 88589117 88589117 + Silent SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:88589117T>C ENST00000266712.6 + 14 2656 c.2436T>C c.(2434-2436)aaT>aaC p.N812N NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 813 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCCATTTGAATATAGTCAGGG 0.343000 22 89 0 0 0.091800 0 0 ZNF674 641339 broad.mit.edu 37 X 46360580 46360580 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:46360580T>A ENST00000523374.1 - 6 654 c.444A>T c.(442-444)tcA>tcT p.S148S ZNF674_ENST00000414387.2_Silent_p.S142S NM_001039891.2|NM_001146291.1|NM_001190417.1 NP_001034980.1|NP_001139763.1|NP_001177346.1 Q2M3X9 ZN674_HUMAN zinc finger protein 674 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 ACCTTTCCCATGAATAATATT 0.313000 6 31 0 0 0.217242 0 0 SP100 6672 broad.mit.edu 37 2 231338154 231338154 + Splice_Site SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:231338154G>C ENST00000264052.5 + 16 1900 c.1546_splice c.e16+1 p.M515_splice SP100_ENST00000409112.1_Splice_Site_p.M515_splice|SP100_ENST00000340126.4_Splice_Site_p.M515_splice NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 515 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTGACATGATGGGTAAGGCTA 0.468000 41 158 0 0 0.139131 0 0 TULP4 56995 broad.mit.edu 37 6 158923886 158923886 + Missense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:158923886C>T ENST00000367097.3 + 13 4548 c.3191C>T c.(3190-3192)tCc>tTc p.S1064F TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1064 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCGTTGGCCTCCCAGTCCTCC 0.697000 4 19 0 0 0.184627 0 0 ATP13A3 79572 broad.mit.edu 37 3 194175080 194175080 + Silent SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:194175080T>A ENST00000439040.1 - 9 1463 c.672A>T c.(670-672)atA>atT p.I224I ATP13A3_ENST00000256031.4_Silent_p.I224I Q9H7F0 AT133_HUMAN ATPase type 13A3 224 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGCTCCACAGTATAACACTGA 0.338000 11 29 0 0 0.093190 0 0 ANXA4 307 broad.mit.edu 37 2 70043264 70043264 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:70043264G>A ENST00000394295.4 + 9 814 c.566G>A c.(565-567)gGg>gAg p.G189E ANXA4_ENST00000409920.1_Missense_Mutation_p.G167E|ANXA4_ENST00000536030.1_Missense_Mutation_p.G105E NM_001153.3 NP_001144.1 P09525 ANXA4_HUMAN annexin A4 187 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 AAGAAATGGGGGACAGATGAG 0.443000 9 82 0 0 0.058154 0 0 BMP2K 55589 broad.mit.edu 37 4 79766107 79766107 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:79766107G>T ENST00000335016.5 + 5 738 c.572G>T c.(571-573)gGt>gTt p.G191V BMP2K_ENST00000502871.1_Missense_Mutation_p.G191V NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 191 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 TTGAATGATGGTGGGAACTAT 0.264000 6 31 5.18039e-06 5.89143e-06 0.038147 1 0 XKR6 286046 broad.mit.edu 37 8 10756124 10756124 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:10756124C>G ENST00000416569.2 - 3 1290 c.1264G>C c.(1264-1266)Gta>Cta p.V422L XKR6_ENST00000304437.2_Missense_Mutation_p.V143L NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 422 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) ACGATCCCTACCACCATGTTG 0.498000 30 52 0 0 0.125774 0 0 RXFP3 51289 broad.mit.edu 37 5 33937928 33937928 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:33937928G>T ENST00000330120.3 + 1 1438 c.1083G>T c.(1081-1083)caG>caT p.Q361H NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 361 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CCTTCAGCCAGGAGTATTTCC 0.602000 9 81 1.76689e-08 2.15495e-08 0.058154 1 0 GABRB1 2560 broad.mit.edu 37 4 47322175 47322175 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:47322175C>G ENST00000295454.3 + 5 785 c.493C>G c.(493-495)Ctt>Gtt p.L165V GABRB1_ENST00000538619.1_Missense_Mutation_p.L95V NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 165 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TATGATGGATCTTCGAAGATA 0.423000 39 68 0 0 0.104719 0 0 GLRA1 2741 broad.mit.edu 37 5 151271916 151271916 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:151271916C>A ENST00000274576.4 - 2 432 c.140G>T c.(139-141)gGg>gTg p.G47V GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.G47V|GLRA1_ENST00000545569.1_Intron NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 47 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGAGGTTCTCCCCATTAGCTT 0.502000 31 92 3.62531e-18 5.33073e-18 0.203993 1 0 KMT2C 58508 broad.mit.edu 37 7 151945112 151945112 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:151945112C>A ENST00000355193.2 - 14 2625 c.2407G>T c.(2407-2409)Gct>Tct p.A803S KMT2C_ENST00000262189.6_Missense_Mutation_p.A803S lysine (K)-specific methyltransferase 2C GAACTAAGAGCTGAAGGGTAA 0.423000 16 547 2.48551e-13 3.38756e-13 0.160694 1 0 VANGL2 57216 broad.mit.edu 37 1 160395114 160395114 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:160395114G>T ENST00000368061.2 + 8 1986 c.1512G>T c.(1510-1512)gtG>gtT p.V504V NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 504 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGAATTTGTGGATCCCAAGT 0.537000 55 193 2.43698e-19 3.61393e-19 0.139131 1 0 ATP11A 23250 broad.mit.edu 37 13 113473723 113473723 + Splice_Site SNP T T G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:113473723T>G ENST00000487903.1 + 7 762 c.e7+2 ATP11A_ENST00000375630.2_Splice_Site|ATP11A_ENST00000283558.8_Splice_Site|ATP11A_ENST00000375645.3_Splice_Site P98196 AT11A_HUMAN ATPase, class VI, type 11A ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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_lung(25;0.134)|all_epithelial(44;0.141) CCTCTACAAGTAAGCGGGAGC 0.527000 16 29 0 0 0.160694 0 0 DNAH1 25981 broad.mit.edu 37 3 52433737 52433737 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:52433737C>T ENST00000420323.2 + 77 12879 c.12618C>T c.(12616-12618)cgC>cgT p.R4206R NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 4271 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACCCAACCGCAAGGCCCAGG 0.602000 10 23 0 0 0.069234 0 0 CASP2 835 broad.mit.edu 37 7 142997119 142997119 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:142997119A>T ENST00000310447.5 + 7 1092 c.851A>T c.(850-852)tAt>tTt p.Y284F CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 284 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) GGCGCCATCTATGGTGTGGAT 0.547000 OREG0018400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 89 0 0 0.175082 0 0 HDAC9 9734 broad.mit.edu 37 7 19015566 19015566 + Nonsense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:19015566G>T ENST00000406451.3 + 25 3301 c.3151G>T c.(3151-3153)Gaa>Taa p.E1051* HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E1010*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E1054* NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 0 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CTTTGCTCAGGAAGACAGCAG 0.527000 15 92 2.23348e-06 2.59084e-06 0.146539 1 0 GIPR 2696 broad.mit.edu 37 19 46178075 46178075 + Silent SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:46178075G>C ENST00000590918.1 + 7 723 c.624G>C c.(622-624)ctG>ctC p.L208L GIPR_ENST00000304207.8_Silent_p.L172L|GIPR_ENST00000263281.3_Silent_p.L208L NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 208 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) CCCTTGCGCTGTGGAACCAGG 0.577000 8 17 0 0 0.038147 0 0 TIMP1 7076 broad.mit.edu 37 X 47444636 47444636 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:47444636C>A ENST00000377018.2 + 3 569 c.5C>A c.(4-6)cCg>cAg p.P2Q SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377017.1_Silent_p.A14A|TIMP1_ENST00000218388.4_Silent_p.A78A|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_Silent_p.A78A P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 0 erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation platelet alpha granule lumen metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(1)|large_intestine(2) 3 TAGGGGATGCCGCTGACATCC 0.532000 5 20 5.9392e-07 7.01417e-07 0.217242 1 0 SERPINE2 5270 broad.mit.edu 37 2 224866446 224866446 + Missense_Mutation SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:224866446T>A ENST00000409840.3 - 3 832 c.172A>T c.(172-174)Att>Ttt p.I58F SERPINE2_ENST00000447280.2_Missense_Mutation_p.I70F|SERPINE2_ENST00000409304.1_Missense_Mutation_p.I58F|SERPINE2_ENST00000258405.4_Missense_Mutation_p.I58F P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 58 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) ACCGACGCAATCCCATGGGGA 0.562000 12 110 0 0 0.105934 0 0 PLD2 5338 broad.mit.edu 37 17 4714202 4714202 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:4714202G>A ENST00000263088.6 + 10 1097 c.966G>A c.(964-966)cgG>cgA p.R322R PLD2_ENST00000572940.1_Silent_p.R322R NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 322 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) AGCTGCACCGGCATGACAGCT 0.617000 3 27 0 0 0.115264 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93135316 93135316 + Missense_Mutation SNP T T C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:93135316T>C ENST00000344636.3 + 4 333 c.149T>C c.(148-150)gTa>gCa p.V50A PLEKHG7_ENST00000549856.1_Missense_Mutation_p.V50A NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 50 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 AAGGACTATGTAGACGCTTCT 0.438000 5 159 0 0 0.217242 0 0 FAM47B 170062 broad.mit.edu 37 X 34961280 34961280 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:34961280A>T ENST00000329357.5 + 1 368 c.332A>T c.(331-333)cAg>cTg p.Q111L NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 111 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCGCCAGTACAGCCAGCACGG 0.532000 42 85 0 0 0.124865 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181645 57181645 + Silent SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:57181645C>G ENST00000504228.1 + 6 2082 c.1977C>G c.(1975-1977)ccC>ccG p.P659P KIAA1211_ENST00000541073.1_Silent_p.P652P|KIAA1211_ENST00000264229.6_Silent_p.P659P Q6ZU35 K1211_HUMAN KIAA1211 659 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGGAGTCTCCCAGCAGCGCGT 0.677000 17 44 0 0 0.160694 0 0 GABRB3 2562 broad.mit.edu 37 15 26828544 26828544 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:26828544G>A ENST00000541819.2 - 6 749 c.647C>T c.(646-648)gCa>gTa p.A216V GABRB3_ENST00000299267.4_Missense_Mutation_p.A160V|GABRB3_ENST00000545868.1_Missense_Mutation_p.A75V|GABRB3_ENST00000311550.5_Missense_Mutation_p.A160V|GABRB3_ENST00000400188.3_Missense_Mutation_p.A89V P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 160 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CATCATGCATGCTGCTGTCGT 0.463000 9 51 0 0 0.069234 0 0 CXCL12 6387 broad.mit.edu 37 10 44871411 44871411 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:44871411C>A ENST00000374426.2 - 4 373 c.336G>T c.(334-336)aaG>aaT p.K112N CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) TCTGGGCAGCCTTTCTCTTCT 0.423000 27 45 7.38237e-10 9.422e-10 0.116897 1 0 GP2 2813 broad.mit.edu 37 16 20331682 20331682 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:20331682G>A ENST00000302555.5 - 5 909 c.760C>T c.(760-762)Cga>Tga p.R254* GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Nonsense_Mutation_p.R110*|GP2_ENST00000381362.4_Nonsense_Mutation_p.R257*|GP2_ENST00000341642.5_Nonsense_Mutation_p.R107* P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 257 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TTTGGGTCTCGCAGGTAGGCA 0.582000 26 69 0 0 0.116897 0 0 AMBRA1 55626 broad.mit.edu 37 11 46568663 46568663 + Splice_Site SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:46568663G>A ENST00000458649.2 - 4 796 c.378_splice c.e4+1 p.H126_splice AMBRA1_ENST00000314845.3_Splice_Site_p.H126_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.H126_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.H126_splice|AMBRA1_ENST00000298834.3_Splice_Site_p.H126_splice|AMBRA1_ENST00000426438.1_Splice_Site_p.H126_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.H126_splice Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 126 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) AAATACTCACGTGTAAATCCC 0.468000 22 113 0 0 0.069288 0 0 CPS1 1373 broad.mit.edu 37 2 211464237 211464237 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:211464237C>A ENST00000233072.5 + 14 1697 c.1501C>A c.(1501-1503)Cca>Aca p.P501T CPS1_ENST00000451903.2_Missense_Mutation_p.P50T|CPS1_ENST00000430249.2_Missense_Mutation_p.P507T NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 501 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GGCAGAACAGCCAGATGGGTT 0.473000 15 95 1.52009e-12 2.05036e-12 0.132662 1 0 TRAV10 28676 broad.mit.edu 37 14 22293694 22293694 + RNA SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:22293694T>A ENST00000390432.2 + 0 59 CTGACGACCTTCTTGGTGATT 0.338000 5 140 0 0 0.184627 0 0 CACNA1C 775 broad.mit.edu 37 12 2566852 2566852 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:2566852G>A ENST00000399655.1 + 5 1002 c.737G>A c.(736-738)cGg>cAg p.R246Q CACNA1C_ENST00000399606.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R246Q|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R246Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R246Q NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 246 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGCCCCCTGCGGCTGGTGTCC 0.572000 5 120 0 0 0.217242 0 0 ZNF610 162963 broad.mit.edu 37 19 52856958 52856958 + Silent SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:52856958G>T ENST00000601151.1 + 4 539 c.87G>T c.(85-87)gtG>gtT p.V29V ZNF610_ENST00000327920.8_Silent_p.V29V|ZNF610_ENST00000321287.8_Silent_p.V29V|ZNF610_ENST00000403906.3_Silent_p.V29V NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TCATGGACGTGGCCATCGAAT 0.423000 26 69 4.22769e-11 5.57287e-11 0.116897 1 0 KIAA1432 57589 broad.mit.edu 37 9 5765719 5765719 + Nonsense_Mutation SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:5765719C>T ENST00000414202.2 + 21 3249 c.3058C>T c.(3058-3060)Cag>Tag p.Q1020* KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.Q1020*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.Q941*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.Q941*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.Q904* NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1020 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CAGTTTATCCCAGTCAGCTGA 0.398000 30 170 0 0 0.134883 0 0 TTN 7273 broad.mit.edu 37 2 179604301 179604301 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:179604301A>T ENST00000589042.1 - 48 13883 c.13659T>A c.(13657-13659)acT>acA p.T4553T TTN_ENST00000359218.5_Silent_p.T4315T|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.T4190T|TTN_ENST00000591111.1_Silent_p.T4236T|TTN_ENST00000342175.6_Silent_p.T4382T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4236 Ig-like 25. 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) CAACCCCTTTAGTGACAGGTG 0.413000 28 115 0 0 0.134883 0 0 FNDC1 84624 broad.mit.edu 37 6 159688877 159688877 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:159688877G>A ENST00000297267.9 + 22 5688 c.5488G>A c.(5488-5490)Gac>Aac p.D1830N FNDC1_ENST00000340366.6_Missense_Mutation_p.D1767N NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1830 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AAGAGGTGAAGACCATTGCCA 0.443000 4 66 0 0 0.150653 0 0 GJB4 127534 broad.mit.edu 37 1 35226919 35226919 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:35226919C>A ENST00000339480.1 + 2 434 c.64C>A c.(64-66)Cgc>Agc p.R22S NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 22 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGTGCTGAGCCGCATCTGGCT 0.572000 42 43 5.20006e-24 7.93693e-24 0.124865 1 0 AFTPH 54812 broad.mit.edu 37 2 64800103 64800103 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:64800103A>G ENST00000422803.1 + 6 2609 c.2295A>G c.(2293-2295)gaA>gaG p.E765E AFTPH_ENST00000409933.1_Silent_p.E765E|AFTPH_ENST00000238855.7_Silent_p.E765E|AFTPH_ENST00000238856.4_Silent_p.E765E|AFTPH_ENST00000409183.1_Silent_p.E396E|AFTPH_ENST00000487769.1_3'UTR Q6ULP2 AFTIN_HUMAN aftiphilin 765 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 CCACCAAGGAACCACTGAAAC 0.438000 14 320 0 0 0.119110 0 0 RBM26 64062 broad.mit.edu 37 13 79942937 79942937 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:79942937G>A ENST00000438737.2 - 6 1263 c.823C>T c.(823-825)Cat>Tat p.H275Y RBM26_ENST00000438724.1_Missense_Mutation_p.H275Y|RBM26_ENST00000267229.7_Missense_Mutation_p.H275Y Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 275 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TGGTCTTCATGAAATTCAGAC 0.418000 7 93 0 0 0.038147 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756235 94756235 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:94756235A>T ENST00000554723.1 - 2 1234 c.816T>A c.(814-816)ctT>ctA p.L272L SERPINA10_ENST00000554173.1_Silent_p.L232L|SERPINA10_ENST00000261994.4_Silent_p.L232L|SERPINA10_ENST00000393096.1_Silent_p.L232L Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 232 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGTAATCCACAAGAATTAATT 0.423000 11 36 0 0 0.093190 0 0 OR6K2 81448 broad.mit.edu 37 1 158670207 158670207 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:158670207G>T ENST00000359610.2 - 1 279 c.236C>A c.(235-237)cCa>cAa p.P79Q NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) CAGCATCTTTGGGATTGTGGC 0.458000 11 439 3.07112e-06 3.5389e-06 0.080935 1 0 CACNA1E 777 broad.mit.edu 37 1 181546994 181546994 + Nonsense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:181546994C>A ENST00000526775.1 + 4 770 c.605C>A c.(604-606)tCa>tAa p.S202* CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.S153*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.S202*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.S153*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.S202*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.S202*|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 202 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AAGCTCGTGTCAGGGATACCT 0.532000 6 50 0.0215528 0.0222783 0.217242 1 0 NAALADL2 254827 broad.mit.edu 37 3 175520847 175520847 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:175520847G>T ENST00000454872.1 + 14 2372 c.2244G>T c.(2242-2244)gaG>gaT p.E748D NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 748 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TACTTATAGAGGCTTGGGAAC 0.393000 14 35 0.0167234 0.0173206 0.105934 1 0 MDH1B 130752 broad.mit.edu 37 2 207615683 207615683 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:207615683G>T ENST00000374412.3 - 6 1302 c.1027C>A c.(1027-1029)Cct>Act p.P343T MDH1B_ENST00000454776.2_Missense_Mutation_p.P343T|MDH1B_ENST00000449792.1_Missense_Mutation_p.P245T|MDH1B_ENST00000392214.2_Intron NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 343 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TTTAAAACAGGGCGTGAATAA 0.328000 5 67 0.184627 0.187866 0.184627 1 0 FAM47A 158724 broad.mit.edu 37 X 34148327 34148327 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:34148327C>A ENST00000346193.3 - 1 2120 c.2069G>T c.(2068-2070)cGt>cTt p.R690L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 690 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 CATCTTCACACGCTGTGCGGT 0.428000 23 72 1.64293e-13 2.26881e-13 0.083992 1 0 ALG1 56052 broad.mit.edu 37 16 5129756 5129756 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:5129756A>G ENST00000588623.1 + 10 1676 c.576A>G c.(574-576)gaA>gaG p.E192E ALG1_ENST00000544428.1_Silent_p.E192E|ALG1_ENST00000262374.5_Silent_p.E303E Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 303 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity p.E303E(3) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) CAGAGTTTGAACAACTGACTC 0.443000 33 56 0 0 0.139131 0 0 HACE1 57531 broad.mit.edu 37 6 105192075 105192075 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:105192075G>A ENST00000262903.4 - 22 2749 c.2473C>T c.(2473-2475)Caa>Taa p.Q825* HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Nonsense_Mutation_p.Q610* NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 825 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) CTCTCCTCTTGAGTAATGTCT 0.333000 20 71 0 0 0.083992 0 0 PABPC5 140886 broad.mit.edu 37 X 90691483 90691483 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:90691483C>A ENST00000312600.3 + 2 1121 c.907C>A c.(907-909)Cct>Act p.P303T PABPC5_ENST00000373105.1_Missense_Mutation_p.P139T NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 303 RRM 4. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CCCAGGGGTGCCTATCTATAT 0.448000 9 59 0.000442599 0.000477349 0.058154 1 0 SLC17A7 57030 broad.mit.edu 37 19 49934329 49934329 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:49934329C>A ENST00000221485.3 - 11 1503 c.1332G>T c.(1330-1332)gtG>gtT p.V444V SLC17A7_ENST00000600601.1_Silent_p.V377V|SLC17A7_ENST00000543531.1_Silent_p.V432V NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 444 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) ACAGTGTGCCCACGCCGTTGG 0.622000 20 54 1.40151e-16 2.02096e-16 0.219247 1 0 OR2L2 26246 broad.mit.edu 37 1 248202413 248202413 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:248202413C>A ENST00000366479.2 + 1 940 c.844C>A c.(844-846)Cca>Aca p.P282T OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CATCCTCACCCCAATGCTCAA 0.463000 22 249 1.66031e-10 2.15057e-10 0.091800 1 0 EBI3 10148 broad.mit.edu 37 19 4234679 4234679 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:4234679C>A ENST00000221847.5 + 4 448 c.395C>A c.(394-396)cCa>cAa p.P132Q NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 132 Fibronectin type-III 2. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGACCCTCCAGAAGGCGTG 0.562000 6 72 0.00116845 0.00123218 0.217242 1 0 RGAG1 57529 broad.mit.edu 37 X 109698546 109698546 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:109698546G>T ENST00000465301.2 + 4 4410 c.4164G>T c.(4162-4164)aaG>aaT p.K1388N RGAG1_ENST00000540313.1_Missense_Mutation_p.K1388N NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1388 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ATACCAACAAGTAAAACTCCA 0.463000 29 199 2.12542e-12 2.84479e-12 0.116897 1 0 SYNPO2 171024 broad.mit.edu 37 4 119951385 119951385 + Silent SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:119951385A>G ENST00000307142.4 + 4 1651 c.1455A>G c.(1453-1455)ccA>ccG p.P485P SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.P485P|SYNPO2_ENST00000434046.2_Silent_p.P485P NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 485 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGATGTTACCAGACACCACAG 0.488000 10 41 0 0 0.069234 0 0 ATG2A 23130 broad.mit.edu 37 11 64664023 64664023 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:64664023G>A ENST00000421419.2 - 39 5458 c.5344C>T c.(5344-5346)Cgg>Tgg p.R1782W ATG2A_ENST00000377264.3_Missense_Mutation_p.R1780W Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1780 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TGCAGCCCCCGCATGAGGCGG 0.642000 OREG0004026 type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 23 0 0 0.217242 0 0 OR1S2 219958 broad.mit.edu 37 11 57971021 57971021 + Silent SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:57971021C>G ENST00000302592.6 - 1 632 c.633G>C c.(631-633)gtG>gtC p.V211V NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) CAATAAACAACACAAGCTCAT 0.443000 16 107 0 0 0.219247 0 0 NLRP10 338322 broad.mit.edu 37 11 7981770 7981770 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:7981770G>C ENST00000328600.2 - 2 1550 c.1389C>G c.(1387-1389)agC>agG p.S463R NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 463 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGTGGCGGAAGCTGTAGAACT 0.502000 21 84 0 0 0.069288 0 0 OR52D1 390066 broad.mit.edu 37 11 5510138 5510138 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:5510138C>A ENST00000322641.5 + 1 224 c.202C>A c.(202-204)Ctt>Att p.L68I HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTCCTCTGCCTTCTCTCACT 0.512000 32 91 1.08312e-15 1.54057e-15 0.144211 1 0 LINC01410 103352539 broad.mit.edu 37 9 66466232 66466232 + RNA SNP C C G rs147586413 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:66466232C>G ENST00000424345.1 + 0 865 ggagagagagccggacagact 0.453000 3 15 0 0 0.115264 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745336 37745336 + Nonsense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:37745336G>T ENST00000539465.1 + 16 3900 c.3307G>T c.(3307-3309)Gag>Tag p.E1103* RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E1103* Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1103 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TACAAAGGAAGAGCCACAAGG 0.428000 5 58 1.23904e-05 1.38794e-05 0.184627 1 0 ZNF28 7576 broad.mit.edu 37 19 53303431 53303431 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:53303431C>A ENST00000438150.2 - 2 2401 c.1508G>T c.(1507-1509)tGt>tTt p.C503F ZNF28_ENST00000360272.4_Missense_Mutation_p.C503F|ZNF28_ENST00000457749.2_Missense_Mutation_p.C556F|ZNF28_ENST00000414252.2_Missense_Mutation_p.C503F P17035 ZNF28_HUMAN zinc finger protein 28 556 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) AACTTTCTCACATTCTTCACA 0.388000 16 52 3.45872e-05 3.83323e-05 0.146539 1 0 LTA 4049 broad.mit.edu 37 6 31540548 31540548 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:31540548C>A ENST00000454783.1 + 2 287 c.29C>A c.(28-30)cCa>cAa p.P10Q LTA_ENST00000418386.2_Missense_Mutation_p.P10Q NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 10 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) CTCTTCCTCCCAAGGGTGTGT 0.637000 4 68 0.000602214 0.000646823 0.184627 1 0 ZNF772 400720 broad.mit.edu 37 19 57985635 57985635 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:57985635C>A ENST00000343280.4 - 5 737 c.477G>T c.(475-477)ttG>ttT p.L159F ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.L47F|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000356584.3_Missense_Mutation_p.L118F NM_001024596.2 NP_001019767.1 Q68DY9 ZN772_HUMAN zinc finger protein 772 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(4)|lung(3) 9 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174) GGTGCTCAGCCAAGTGCAAAA 0.507000 34 44 1.30015e-28 2.00792e-28 0.214465 1 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457224 45457224 + RNA SNP A A G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:45457224A>G ENST00000548424.1 + 0 448 CTTATAGTCAATCAATGCTGG 0.413000 7 48 0 0 0.029380 0 0 CCDC22 28952 broad.mit.edu 37 X 49093592 49093592 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:49093592C>T ENST00000376227.3 + 2 260 c.90C>T c.(88-90)acC>acT p.T30T CCDC22_ENST00000496651.1_3'UTR NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 30 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 GCGCCTTCACCACTGAGCTGG 0.612000 22 31 0 0 0.108266 0 0 TECRL 253017 broad.mit.edu 37 4 65180447 65180447 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:65180447A>T ENST00000381210.3 - 5 580 c.470T>A c.(469-471)aTa>aAa p.I157K TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.I157K NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 157 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 GAGGAGGTATATTAGCAGAGG 0.353000 9 34 0 0 0.093190 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131785526 131785526 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:131785526G>A ENST00000392953.3 + 5 955 c.436G>A c.(436-438)Gat>Aat p.D146N ARHGEF4_ENST00000525839.1_Missense_Mutation_p.D146N|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.D75N|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.D146N|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.D146N NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 146 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGCCATGCCTGATGGAGCTCT 0.627000 5 11 0 0 0.184627 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137750 40137750 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:40137750C>T ENST00000278198.2 - 2 2056 c.93G>A c.(91-93)ctG>ctA p.L31L LRRC4C_ENST00000528697.1_Silent_p.L31L|LRRC4C_ENST00000530763.1_Silent_p.L31L|LRRC4C_ENST00000527150.1_Silent_p.L31L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 31 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTTGAAGAGCCAGCAGCACCA 0.502000 17 25 0 0 0.189662 0 0 DOCK11 139818 broad.mit.edu 37 X 117749590 117749590 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:117749590C>T ENST00000276204.6 + 30 3282 c.3208C>T c.(3208-3210)Ctg>Ttg p.L1070L DOCK11_ENST00000276202.7_Silent_p.L1070L Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1070 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 GTTTGAATTTCTGCAAACAAT 0.353000 11 41 0 0 0.080935 0 0 FAM193A 8603 broad.mit.edu 37 4 2701538 2701538 + Missense_Mutation SNP G G T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:2701538G>T ENST00000324666.5 + 17 3117 c.2766G>T c.(2764-2766)caG>caT p.Q922H FAM193A_ENST00000502458.1_Missense_Mutation_p.Q944H|FAM193A_ENST00000382839.3_Missense_Mutation_p.Q922H|FAM193A_ENST00000545951.1_Missense_Mutation_p.Q922H|FAM193A_ENST00000505311.1_Missense_Mutation_p.Q922H NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 922 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AGGAATTTCAGCGGCTTCAGG 0.542000 31 35 1.15183e-24 1.7684e-24 0.111260 1 0 ZAN 7455 broad.mit.edu 37 7 100373017 100373017 + RNA SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:100373017C>T ENST00000542585.1 + 0 5992 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCATTCTATCCCGGACGCCT 0.567000 5 59 0 0 0.217242 0 0 DZIP1L 199221 broad.mit.edu 37 3 137799408 137799408 + Splice_Site SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:137799408C>A ENST00000327532.2 - 10 1651 c.e10+1 DZIP1L_ENST00000488595.1_Splice_Site|DZIP1L_ENST00000469243.1_Splice_Site NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like intracellular zinc ion binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 TAAGGTCCCACCTTCCTCTGG 0.517000 14 49 1.56452e-12 2.10485e-12 0.189662 1 0 VPS13B 157680 broad.mit.edu 37 8 100832296 100832296 + Silent SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:100832296G>A ENST00000358544.2 + 49 9126 c.9015G>A c.(9013-9015)gaG>gaA p.E3005E VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.E2980E NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3005 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTGAAGGAGAGAAAATTGTTC 0.373000 7 204 0 0 0.029380 0 0 CNGB3 54714 broad.mit.edu 37 8 87656851 87656851 + Splice_Site SNP T T A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:87656851T>A ENST00000320005.5 - 9 1101 c.1055_splice c.e9+1 p.R352_splice NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 352 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATACTTTACCTGTAGATATAT 0.343000 10 39 0 0 0.080935 0 0 PTPN11 5781 broad.mit.edu 37 12 112939970 112939970 + Missense_Mutation SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:112939970A>T ENST00000351677.2 + 14 1820 c.1622A>T c.(1621-1623)gAa>gTa p.E541V NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 545 axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 AAAGGGCACGAATATACAAAT 0.443000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 17 72 0 0 0.189662 0 0 MAVS 57506 broad.mit.edu 37 20 3838457 3838457 + Splice_Site SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:3838457G>C ENST00000428216.2 + 3 420 c.e3+1 MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Splice_Site NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 TACCAGCCTCGTGAGCGTCCT 0.622000 10 48 0 0 0.093190 0 0 LPAL2 80350 broad.mit.edu 37 6 160903810 160903810 + RNA SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:160903810C>A ENST00000335388.5 - 0 1073 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TGTCCATTACCGTGGTAGCAC 0.478000 25 168 7.33532e-06 8.28796e-06 0.091800 1 0 FBN2 2201 broad.mit.edu 37 5 127670448 127670448 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:127670448C>A ENST00000508053.1 - 37 5036 c.4062G>T c.(4060-4062)ctG>ctT p.L1354L FBN2_ENST00000507835.1_Silent_p.L204L|FBN2_ENST00000262464.4_Silent_p.L1354L|FBN2_ENST00000508989.1_Silent_p.L1321L P35556 FBN2_HUMAN fibrillin 2 1354 EGF-like 21; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.L1354L(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTGAGTAACCCAGCTGACAGT 0.408000 4 95 0.00909568 0.00947694 0.150653 1 0 JAG1 182 broad.mit.edu 37 20 10629340 10629340 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:10629340G>C ENST00000254958.5 - 12 1941 c.1426C>G c.(1426-1428)Cca>Gca p.P476A JAG1_ENST00000423891.2_Missense_Mutation_p.P317A NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 476 EGF-like 7; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TAGCCAGGTGGACAGATACAG 0.458000 Alagille Syndrome 3 59 0 0 0.115264 0 0 CFH 3075 broad.mit.edu 37 1 196684731 196684731 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:196684731G>C ENST00000367429.4 + 11 1768 c.1528G>C c.(1528-1530)Gat>Cat p.D510H NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 510 complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AGAATCTTGTGATATCCCAGT 0.308000 20 79 0 0 0.189662 0 0 TBC1D23 55773 broad.mit.edu 37 3 100014011 100014011 + Silent SNP A A T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:100014011A>T ENST00000394144.4 + 6 688 c.681A>T c.(679-681)ccA>ccT p.P227P TBC1D23_ENST00000344949.5_Silent_p.P227P|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.P90P NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 227 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AAGCAGATCCATTTTTTATTT 0.333000 15 35 0 0 0.160694 0 0 ASPM 259266 broad.mit.edu 37 1 197071122 197071122 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:197071122G>A ENST00000367409.4 - 18 7515 c.7259C>T c.(7258-7260)tCa>tTa p.S2420L ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2420 IQ 25. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CACCAGTAATGATCTAAACCT 0.393000 16 152 0 0 0.146539 0 0 METTL21A 151194 broad.mit.edu 37 2 208478080 208478080 + Missense_Mutation SNP G G C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:208478080G>C ENST00000411432.1 - 4 563 c.347C>G c.(346-348)aCt>aGt p.T116S METTL21A_ENST00000406927.2_Missense_Mutation_p.T116S|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.T116S|METTL21A_ENST00000426075.1_Missense_Mutation_p.T116S|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.T116S|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000272839.3_Missense_Mutation_p.T134S NM_001127395.1 NP_001120867.1 Q8WXB1 MT21A_HUMAN methyltransferase like 21A 116 integral to membrane methyltransferase activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1) 10 AACAGTTTTAGTTTGGATATG 0.378000 21 36 0 0 0.234183 0 0 NRXN3 9369 broad.mit.edu 37 14 80130240 80130240 + Silent SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:80130240C>A ENST00000281127.7 + 3 1428 c.549C>A c.(547-549)ggC>ggA p.G183G NRXN3_ENST00000557594.1_Silent_p.G183G|NRXN3_ENST00000335750.5_Silent_p.G815G|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Silent_p.G815G|NRXN3_ENST00000428277.2_Silent_p.G183G|NRXN3_ENST00000556003.1_3'UTR NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 183 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGAACGGCGGCAACGCCACCC 0.488000 10 44 0.00136819 0.00143991 0.093190 1 0 WDR17 116966 broad.mit.edu 37 4 177041039 177041039 + Nonsense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:177041039G>A ENST00000393643.2 + 4 581 c.329G>A c.(328-330)tGg>tAg p.W110* WDR17_ENST00000508596.1_Nonsense_Mutation_p.W110*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.W134*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.W134* NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 134 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCTCTTAGTTGGTGCTGGAAT 0.408000 19 83 0 0 0.204396 0 0 PTGS2 5743 broad.mit.edu 37 1 186646874 186646874 + Missense_Mutation SNP C C G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:186646874C>G ENST00000367468.5 - 5 682 c.546G>C c.(544-546)atG>atC p.M182I PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 182 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) ATGCAAACATCATGTTTGAGC 0.448000 3 68 0 0 0.115264 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765146 77765146 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:77765146C>A ENST00000521891.2 + 10 6437 c.5989C>A c.(5989-5991)Cca>Aca p.P1997T ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1952T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1952T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1971T NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1952 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCCAATTTCTCCATCTTCTCC 0.507000 HNSCC(33;0.089) 20 78 1.00905e-13 1.40459e-13 0.204396 1 0 TRPV3 162514 broad.mit.edu 37 17 3436155 3436155 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:3436155C>T ENST00000301365.4 - 8 992 c.861G>A c.(859-861)acG>acA p.T287T TRPV3_ENST00000572519.1_Silent_p.T287T|TRPV3_ENST00000576742.1_Silent_p.T287T Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 287 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) AGGTGATGTCCGTCTGCTCGT 0.607000 3 47 0 0 0.115264 0 0 WWC3 55841 broad.mit.edu 37 X 10085245 10085245 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:10085245C>A ENST00000380861.4 + 11 1537 c.1146C>A c.(1144-1146)agC>agA p.S382R WWC3_ENST00000454666.1_Missense_Mutation_p.S382R NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 382 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 TGGCCTCCAGCCGGGGCTCCC 0.662000 5 19 2.0095e-06 2.34142e-06 0.029380 1 0 PACSIN2 11252 broad.mit.edu 37 22 43272936 43272936 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr22:43272936G>A ENST00000263246.3 - 9 1310 c.1109C>T c.(1108-1110)aCg>aTg p.T370M PACSIN2_ENST00000337959.4_Intron|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000402229.1_Missense_Mutation_p.T370M|PACSIN2_ENST00000403744.3_Missense_Mutation_p.T370M|PACSIN2_ENST00000407585.1_Intron NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 370 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) GGTGCTGCCCGTGTCGTCCTC 0.562000 12 27 0 0 0.105934 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733253 56733253 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:56733253C>A ENST00000587340.1 - 7 1877 c.1182G>T c.(1180-1182)atG>atT p.M394I ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.M394I|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.M248I|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.M393I|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.M277I Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 394 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TAATAAGCTGCATGAAGCGCT 0.502000 3 41 2.56e-06 2.96302e-06 0.150653 1 0 DAB1 1600 broad.mit.edu 37 1 57480680 57480680 + Frame_Shift_Del DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:57480680delT ENST00000371236.2 - 12 1583 c.1320delA c.(1318-1320)tcfs p.S440fs DAB1_ENST00000371234.4_Frame_Shift_Del_p.S440fs|DAB1_ENST00000439789.2_Frame_Shift_Del_p.S354fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.S422fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.S438fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Frame_Shift_Del_p.S473fs O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 473 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 AGAAGGCCTCTGAGGTACAGG 0.542 20 23 --- --- --- --- LOC101926964 101926964 broad.mit.edu 37 1 61267825 61267825 + RNA DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:61267825delG ENST00000423403.1 - 0 249 gggcgggggtgggggggttgt 0.438 2 4 --- --- --- --- LINC01362 103283057 broad.mit.edu 37 1 83549898 83549899 + RNA DEL AC AC - rs10564021 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:83549898_83549899delAC ENST00000452901.1 + 0 1140 TAACAACAAAACACATAATACC 0.337 2 4 --- --- --- --- ABCA4 24 broad.mit.edu 37 1 94495002 94495003 + Splice_Site INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:94495002_94495003insG ENST00000370225.3 - 30 4623_4624 c.4539_splice c.e30+1 p.E1513_splice NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1513 Q -> R (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GTCAGGTACCTGGGGGGGCGGG 0.624 3 5 --- --- --- --- LINC01057 101928079 broad.mit.edu 37 1 95208766 95208767 + RNA INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:95208766_95208767insC ENST00000452922.1 - 0 326 ACCAGCTACTGCCCCCCTCACA 0.500 4 8 --- --- --- --- LOC101928241 101928241 broad.mit.edu 37 1 96751506 96751507 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:96751506_96751507insT ENST00000435311.1 - 0 312 ggtactgggcatttttttggtt 0.426 2 4 --- --- --- --- RP5-965F6.2 0 broad.mit.edu 37 1 112828763 112828764 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:112828763_112828764insA ENST00000427290.1 - 0 167 CAAAAACAAACAAAAAAAAAGA 0.421 2 4 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 143955026 143955027 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:143955026_143955027insT ENST00000467933.1 + 0 915 AAGAAAAGACATTTTTTTTTTT 0.361 3 6 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 143982491 143982491 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:143982491delC ENST00000467933.1 + 0 915 TTCTGGCCCTCCTGAAACAGG 0.522 4 9 --- --- --- --- SRGAP2B 647135 broad.mit.edu 37 1 144007216 144007217 + RNA INS - - A rs113349318 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:144007216_144007217insA ENST00000467933.1 + 0 915 catgcaccacccccccagctaa 0.540 5 9 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145107317 145107318 + RNA DEL AA AA - rs3977179 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:145107317_145107318delAA ENST00000453618.1 + 0 512 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 ttctgAATATAAGTTTTGCTTG 0.297 4 6 --- --- --- --- ANKRD35 148741 broad.mit.edu 37 1 145561840 145561841 + Frame_Shift_Ins INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:145561840_145561841insG ENST00000355594.4 + 10 1615_1616 c.1528_1529insG c.(1528-1530)gggfs p.G510fs NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 510 p.R510R(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGATGCTGCCCGGGGGGCTTTG 0.629 9 212 --- --- --- --- SPRR2D 6703 broad.mit.edu 37 1 153012733 153012734 + Frame_Shift_Ins INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:153012733_153012734insG ENST00000368757.1 - 2 369_370 c.89_90insC c.(88-90)caafs p.Q30fs SPRR2D_ENST00000360379.3_Frame_Shift_Ins_p.Q30fs|SPRR2D_ENST00000368758.3_Frame_Shift_Ins_p.Q30fs|SPRR2D_ENST00000368756.1_Frame_Shift_Ins_p.Q30fs P22532 SPR2D_HUMAN small proline-rich protein 2D 30 3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS]. keratinization cornified envelope|cytoplasm endometrium(1)|skin(1) 2 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGGCACTTCGGGGGTGGACA 0.619 8 419 --- --- --- --- LOC101928009 101928009 broad.mit.edu 37 1 153150345 153150345 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:153150345delA ENST00000427145.1 + 0 656 taagtcctccaaaaaaaaaag 0.299 3 4 --- --- --- --- DCST2 127579 broad.mit.edu 37 1 154991025 154991026 + Frame_Shift_Ins INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:154991025_154991026insG ENST00000368424.3 - 15 2374_2375 c.2316_2317insC c.(2314-2319)ccaatafs p.I773fs NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 773 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 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) TTGGTTTATTTGGGGGGTGGGT 0.525 8 418 --- --- --- --- RP11-276E17.2 0 broad.mit.edu 37 1 166451755 166451756 + RNA INS - - AAA rs71817524 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:166451755_166451756insAAA ENST00000426519.1 - 0 179 TCAGGAATGCTaaaaaaaaaaa 0.322 3 4 --- --- --- --- RP1-15D23.2 0 broad.mit.edu 37 1 172757074 172757074 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:172757074delA ENST00000432694.1 + 0 223 gcttgaaaccaaacagcactg 0.547 2 4 --- --- --- --- RP1-35C21.2 0 broad.mit.edu 37 1 177463069 177463070 + RNA INS - - ACAC rs140742918 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:177463069_177463070insACAC ENST00000438575.1 - 0 296 tatgtgtgtgtacacacacaca 0.302 6 4 --- --- --- --- RP11-373J16.1 0 broad.mit.edu 37 1 188923917 188923918 + RNA INS - - A rs141529909 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:188923917_188923918insA ENST00000445072.1 + 0 239 gaaggagacagaaaaaaaaaca 0.342 2 4 --- --- --- --- RP11-541F9.2 0 broad.mit.edu 37 1 191904040 191904040 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:191904040delA ENST00000430776.1 + 0 206 aaaaaattttaaaaaagtaat 0.239 2 4 --- --- --- --- MIR181A1HG 100131234 broad.mit.edu 37 1 198784915 198784916 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:198784915_198784916insA ENST00000412162.1 - 0 191 atggcaaaaagaaaaaaaaagg 0.366 2 4 --- --- --- --- RPS10P7 376693 broad.mit.edu 37 1 201489731 201489731 + RNA DEL G G - rs4915234 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:201489731delG ENST00000441932.1 + 0 1901 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 AAAAAaaaaagaaagaaagct 0.423 5 9 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:207642043_207642044insC ENST00000367057.3 + 3 806_807 c.617_618insC c.(616-618)gccfs p.A206fs CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGAGTGCTGTCCCCCCCACAT 0.396 7 366 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222302682 222302685 + RNA DEL ATTC ATTC - rs113195079 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:222302682_222302685delATTC ENST00000416510.1 - 0 278 agcagtatgaattcaggtctatca 0.343 11 5 --- --- --- --- CTD-2090I13.1 0 broad.mit.edu 37 1 227617129 227617130 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr1:227617129_227617130insA ENST00000445817.1 + 0 364_365 CCTTAGAGATGAAAAAAAAAAC 0.480 2 4 --- --- --- --- LINC01115 339822 broad.mit.edu 37 2 850330 850330 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:850330delC ENST00000414556.1 - 0 309 NR_033880.1 ggtggaaaatcagtgaagaag 0.537 6 4 --- --- --- --- LINC00298 339788 broad.mit.edu 37 2 8100754 8100754 + RNA DEL A A - rs113226396 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:8100754delA ENST00000426969.1 - 0 312 NR_015405.1 ctaaaaatacaaaaaaaaatt 0.512 3 3 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12445845 12445845 + RNA DEL C C - rs77609092 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:12445845delC ENST00000412294.1 + 0 315 GTGAAGATGTCCCCCCCATGT 0.507 6 3 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12627562 12627562 + RNA DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:12627562delG ENST00000412294.1 + 0 412 tttatgcaaagccttaaacaa 0.443 3 5 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35081874 35081874 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:35081874delT ENST00000588944.1 + 0 115 aaataatgggttatgatagca 0.284 2 4 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38656470 38656471 + RNA DEL AC AC - rs72527542 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:38656470_38656471delAC ENST00000417039.1 - 0 894 GGAAACTCAAacacacacacac 0.376 4 2 --- --- --- --- AC079807.4 0 broad.mit.edu 37 2 48321472 48321472 + RNA DEL T T - rs112978398 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:48321472delT ENST00000447571.1 - 0 240 p.0?(2) ACTTCAGAGCTTTTCTTTCTT 0.393 4 2 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 59147837 59147837 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:59147837delT ENST00000452840.1 + 0 434 CATCAGATGATTTCCAAGTCC 0.527 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59656451 59656451 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:59656451delT ENST00000606382.1 - 0 433 acgatctgaattttttttttt 0.423 3 3 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60125156 60125156 + RNA DEL A A - rs11323546 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:60125156delA ENST00000606382.1 - 0 110 ACaaaaaaccaaaaaaaaaaa 0.403 3 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60163600 60163601 + RNA INS - - T rs141664992 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:60163600_60163601insT ENST00000606382.1 - 0 110 AGGAAGGAgtgtgtgtgtgtgt 0.391 2 4 --- --- --- --- AC007381.2 0 broad.mit.edu 37 2 60616590 60616592 + RNA DEL TTT TTT - rs71876574 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:60616590_60616592delTTT ENST00000453476.1 - 0 70 ttcttttttcttttttttttttt 0.429 3 6 --- --- --- --- SLC9B1P2 389000 broad.mit.edu 37 2 92095670 92095670 + RNA DEL G G - rs112963197 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:92095670delG ENST00000606405.1 - 0 167 Aagaacaatagggaatcctcc 0.323 3 5 --- --- --- --- MAP4K4 9448 broad.mit.edu 37 2 102413810 102413810 + Frame_Shift_Del DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:102413810delG ENST00000350878.4 + 1 85 c.85delG c.(85-87)gcfs p.G29fs MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000324219.4_Intron|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000350198.4_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000425019.1_Intron O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 0 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GCATGACTCTGGCAGACTTAC 0.517 9 2 --- --- --- --- TEX41 401014 broad.mit.edu 37 2 145460378 145460379 + RNA INS - - TT rs72096693 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:145460378_145460379insTT ENST00000445791.1 + 0 124 NR_033870.2 ctctacttgagttttttttttt 0.371 6 0 --- --- --- --- LOC101929231 101929231 broad.mit.edu 37 2 150506090 150506092 + RNA DEL CAA CAA - rs76237286 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:150506090_150506092delCAA ENST00000449714.1 + 0 655 ccaccaccaccaACAACAACAAC 0.424 6 7 --- --- --- --- AC016682.1 0 broad.mit.edu 37 2 151040883 151040884 + RNA INS - - AC rs72115557 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:151040883_151040884insAC ENST00000437118.1 + 0 181 CCATCTCTCCAacacacacaca 0.446 5 6 --- --- --- --- AC012501.2 0 broad.mit.edu 37 2 154331744 154331744 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:154331744delA ENST00000424322.1 - 0 429 AAATGGATCTAAGGGCTGGAG 0.438 2 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164666631 164666632 + RNA DEL TC TC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:164666631_164666632delTC ENST00000429636.1 - 0 379 tgcatttgaatctctgtctcag 0.421 4 4 --- --- --- --- AC092684.1 0 broad.mit.edu 37 2 164791358 164791359 + RNA DEL AA AA - rs10549088 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:164791358_164791359delAA ENST00000429636.1 - 0 275 accctgccttaaaaaaaaaaaa 0.441 3 3 --- --- --- --- SCN1A 6323 broad.mit.edu 37 2 166943676 166943676 + RNA DEL A A - rs80096365 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:166943676delA ENST00000447809.2 + 0 148 AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA gaactggttgaaaaaaaaaaa 0.483 4 4 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 --- --- --- --- AC007319.1 0 broad.mit.edu 37 2 188144515 188144515 + RNA DEL C C - rs13397298 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:188144515delC ENST00000412276.1 + 0 189 AC007319.1_ENST00000453517.1_RNA atttgtatatcttttttcatt 0.343 2 4 --- --- --- --- LINC01107 151171 broad.mit.edu 37 2 239431047 239431047 + RNA DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:239431047delG ENST00000446979.1 - 0 718 NR_037809.1 CTTTGCAGGTGGGTCCCCTCC 0.597 2 4 --- --- --- --- LINC01237 101927289 broad.mit.edu 37 2 243006620 243006621 + RNA INS - - CG rs78014906 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr2:243006620_243006621insCG ENST00000415434.1 + 0 310 AC093642.6_ENST00000446593.1_lincRNA acacattcacacacacgcacaa 0.460 3 6 --- --- --- --- LMCD1-AS1 100288428 broad.mit.edu 37 3 8526275 8526275 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:8526275delT ENST00000420095.1 - 0 571 LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000452802.1_RNA NR_033378.1 aatcagaccatgtcatacccc 0.448 2 4 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18876373 18876374 + RNA DEL CA CA - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:18876373_18876374delCA ENST00000425799.2 + 0 360 AATACACGTGCACACACACACA 0.327 2 4 --- --- --- --- RP11-359D24.1 0 broad.mit.edu 37 3 81933037 81933038 + RNA INS - - AA TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:81933037_81933038insAA ENST00000471614.1 + 0 363 aacatttggatagactggatta 0.386 3 5 --- --- --- --- ST3GAL6 10402 broad.mit.edu 37 3 98491720 98491720 + Frame_Shift_Del DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:98491720delT ENST00000394162.1 + 5 698 c.231delT c.(229-231)ggfs p.G77fs ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000483910.1_Frame_Shift_Del_p.G77fs|ST3GAL6_ENST00000468553.1_Frame_Shift_Del_p.G77fs|ST3GAL6_ENST00000462152.1_3'UTR NM_006100.2 NP_006091.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 77 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 CCTTGTATGGTAGCGATAAGT 0.393 10 143 --- --- --- --- LINC00882 100302640 broad.mit.edu 37 3 106649618 106649618 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:106649618delA ENST00000484698.1 - 0 337 ATAACACAGTACTTGGCCCAA 0.408 6 9 --- --- --- --- RP11-90K6.1 0 broad.mit.edu 37 3 112033650 112033651 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:112033650_112033651insA ENST00000498032.1 + 0 237 agaaggggaagaaaaaaacagg 0.411 2 4 --- --- --- --- RP11-93K22.13 0 broad.mit.edu 37 3 129812123 129812123 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:129812123delC ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA cagctctctgccatagggtct 0.542 13 8 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153143274 153143274 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:153143274delA ENST00000493214.2 - 0 381 gaggcacaacaaaaaaagaga 0.403 2 4 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177389694 177389694 + RNA DEL A A - rs71300421 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:177389694delA ENST00000442937.1 + 0 428 NR_047568.1 ttgtgtctacaaaaaaaaaaa 0.507 2 4 --- --- --- --- LOC220729 220729 broad.mit.edu 37 3 197341530 197341531 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr3:197341530_197341531insA ENST00000418868.1 - 0 956 NR_003266.2 gggagaaaaacaacaaacaaaa 0.376 2 4 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16308918 16308922 + RNA DEL GTCTA GTCTA - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:16308918_16308922delGTCTA ENST00000573950.1 + 0 434 CAGGCTGCTTGTCTAGTGATTCCAG 0.483 3 4 --- --- --- --- RP11-380P13.1 0 broad.mit.edu 37 4 23597573 23597574 + RNA INS - - T rs146761358 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:23597573_23597574insT ENST00000514290.1 + 0 117 aggatacttggttttttttaga 0.332 2 4 --- --- --- --- LOC101929199 101929199 broad.mit.edu 37 4 27270326 27270326 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:27270326delT ENST00000512873.1 + 0 360 CAGTTACCCATTTTTGAGACT 0.418 2 4 --- --- --- --- RP11-123O22.1 0 broad.mit.edu 37 4 28545673 28545673 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:28545673delC ENST00000509416.1 + 0 402 TTCACCTGCACCAAACACTGA 0.323 2 4 --- --- --- --- LOC101060498 101060498 broad.mit.edu 37 4 40330938 40330940 + RNA DEL AGG AGG - rs72145179 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:40330938_40330940delAGG ENST00000510551.1 + 0 697 ggcagaacccaggaggaagaaga 0.557 3 4 --- --- --- --- LOC100507053 100507053 broad.mit.edu 37 4 100180081 100180082 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:100180081_100180082insT ENST00000500358.2 + 0 3789 RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000509295.1_RNA NR_037884.1 ttttgtttttgtttttttttct 0.327 2 4 --- --- --- --- RP11-297P16.3 0 broad.mit.edu 37 4 104481505 104481506 + RNA INS - - A rs146704848 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:104481505_104481506insA ENST00000502936.1 + 0 189 RP11-297P16.3_ENST00000512401.1_RNA TAAAAAATAGCAAAAAAAAAAT 0.277 3 4 --- --- --- --- RPL34-AS1 285456 broad.mit.edu 37 4 109461629 109461630 + RNA DEL GT GT - rs36208037 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:109461629_109461630delGT ENST00000507248.1 - 0 1428_1429 NR_026968.1 gcatctgtgcgtgtgtgtgtgt 0.411 4 2 --- --- --- --- RP11-269F21.1 0 broad.mit.edu 37 4 112728376 112728379 + RNA DEL GAGA GAGA - rs13116252 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:112728376_112728379delGAGA ENST00000506068.1 + 0 83 RP11-269F21.2_ENST00000508010.1_lincRNA tgtgtgtgtggagagagagagaga 0.363 3 4 --- --- --- --- RP11-269F21.3 0 broad.mit.edu 37 4 112875276 112875277 + RNA INS - - AA TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:112875276_112875277insAA ENST00000511219.1 - 0 134 tccatctcaagaaaaaaaaaaa 0.421 2 4 --- --- --- --- RP11-659O3.1 0 broad.mit.edu 37 4 117193311 117193312 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:117193311_117193312insT ENST00000509983.1 - 0 199 ttggcctataattttcttTTTT 0.337 2 4 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134072408 134072408 + Frame_Shift_Del DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:134072408delG ENST00000264360.4 + 1 1939 c.1113delG c.(1111-1113)gcfs p.A372fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 372 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GTGAGGGCGCGGCGCCCGGCA 0.622 19 86 --- --- --- --- RP11-371F15.3 0 broad.mit.edu 37 4 139847850 139847851 + RNA INS - - T rs146220640 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:139847850_139847851insT ENST00000507038.1 - 0 158 RP11-371F15.3_ENST00000511951.1_RNA agaggccgtgctttccctttga 0.455 7 1 --- --- --- --- RP13-578N3.3 0 broad.mit.edu 37 4 144687239 144687240 + RNA INS - - T rs146711062 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:144687239_144687240insT ENST00000499587.2 + 0 178 gtgatgtttggttttttgttcc 0.401 6 3 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185542484 185542484 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr4:185542484delA ENST00000522554.1 - 0 292 actccgtctcaaaaaaaaaaa 0.517 2 4 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4824043 4824044 + RNA DEL TG TG - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:4824043_4824044delTG ENST00000507435.1 - 0 206 catatctttttgtgtgtgtgtg 0.381 3 6 --- --- --- --- CTD-2247C11.1 0 broad.mit.edu 37 5 5024753 5024754 + RNA INS - - G rs145903054 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:5024753_5024754insG ENST00000509057.1 - 0 135 acccctgtcgtggggttgGTAC 0.460 5 3 --- --- --- --- RP11-419C19.2 0 broad.mit.edu 37 5 13005377 13005378 + RNA INS - - CT rs112419685 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:13005377_13005378insCT ENST00000510065.1 - 0 166 aaaattttcccgtgttatcaca 0.366 4 3 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21535746 21535747 + RNA DEL AG AG - rs10805732 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:21535746_21535747delAG ENST00000607545.1 + 0 314 NR_027026.1 aaaaaaaaaaagacccaaatat 0.307 3 3 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21558318 21558322 + RNA DEL GTTTA GTTTA - rs2354609 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:21558318_21558322delGTTTA ENST00000607545.1 + 0 314 NR_027026.1 TCCGTTGGTTGTTTAGTTTATTCCT 0.346 2 4 --- --- --- --- RP11-152K4.2 0 broad.mit.edu 37 5 31144805 31144805 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:31144805delA ENST00000523584.1 - 0 125 AGCACAAACTAAAAAAAAAAA 0.373 2 4 --- --- --- --- LIFR-AS1 100506495 broad.mit.edu 37 5 38604803 38604803 + RNA DEL A A - rs34735574 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:38604803delA ENST00000500733.2 + 0 2540 LIFR-AS1_ENST00000500817.2_RNA NR_037423.1|NR_103553.1 actctgtctcaaaaaaaaaaa 0.507 4 2 --- --- --- --- CTD-2023N9.1 0 broad.mit.edu 37 5 56736479 56736479 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:56736479delT ENST00000506106.1 + 0 119 AAGGATTCTGtttttttttgg 0.408 2 4 --- --- --- --- LOC101928858 101928858 broad.mit.edu 37 5 67098878 67098881 + RNA DEL AGTT AGTT - rs34147287 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:67098878_67098881delAGTT ENST00000506819.1 - 0 152 RP11-434D9.2_ENST00000514791.1_lincRNA p.0?(1) CAAAGTTCTGAGTTAGTTATACAG 0.353 4 4 --- --- --- --- CTC-340D7.1 0 broad.mit.edu 37 5 68145781 68145782 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:68145781_68145782insA ENST00000503268.1 - 0 377 p.0?(1) ACAAGAATTGGAAAAAATGGTT 0.356 2 4 --- --- --- --- LINC01339 101929495 broad.mit.edu 37 5 89573423 89573423 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:89573423delA ENST00000519336.1 - 0 176 accgtgtctcaaaaaaaaaaa 0.428 3 4 --- --- --- --- CTC-535M15.2 0 broad.mit.edu 37 5 164818976 164818977 + RNA INS - - A rs138299001 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:164818976_164818977insA ENST00000522189.1 + 0 21 acaacaacaacaaaaaaaaagc 0.347 2 4 --- --- --- --- TENM2 57451 broad.mit.edu 37 5 167182137 167182137 + Frame_Shift_Del DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr5:167182137delG ENST00000519204.1 + 1 197 c.79delG c.(79-81)gcfs p.G27fs TENM2_ENST00000545108.1_Intron|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000518659.1_Intron|TENM2_ENST00000520394.1_Frame_Shift_Del_p.G27fs teneurin transmembrane protein 2 ATGGAGACCCGGCAGTACCTC 0.527 7 1196 --- --- --- --- LOC101930126 101930126 broad.mit.edu 37 6 6905231 6905232 + RNA INS - - C rs147663184 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:6905231_6905232insC ENST00000422310.2 - 0 206 ctctttgttttttttttagagg 0.505 5 3 --- --- --- --- RP1-209A6.1 0 broad.mit.edu 37 6 22812591 22812592 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:22812591_22812592insA ENST00000420572.2 - 0 197 aaacaaacaacaaaaaaaaaaa 0.421 3 5 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34791081 34791082 + Frame_Shift_Ins INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:34791081_34791082insC ENST00000192788.5 + 4 465_466 c.294_295insC c.(292-297)cgccccfs p.RP98fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 98 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATCCTCGGCCCCCCAATGG 0.446 10 238 --- --- --- --- ADCY10P1 221442 broad.mit.edu 37 6 41105476 41105477 + RNA INS - - GAA rs111233412 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:41105476_41105477insGAA ENST00000567255.1 + 0 3999 NR_026938.2 TCTGCATTTCTGAAGAAGTATT 0.416 4 3 --- --- --- --- LOC101928280 101928280 broad.mit.edu 37 6 69004354 69004355 + RNA DEL TG TG - rs67792403 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:69004354_69004355delTG ENST00000445346.1 - 0 237 ttgaaggttttgtgtgtgtgtg 0.332 3 3 --- --- --- --- COL19A1 1310 broad.mit.edu 37 6 70856740 70856740 + Frame_Shift_Del DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:70856740delG ENST00000322773.4 + 27 1954 c.1852delG c.(1852-1854)ggfs p.G618fs COL19A1_ENST00000393344.1_Frame_Shift_Del_p.G240fs NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 618 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CGGTTCCCCAGGGGACATAGG 0.438 32 22 --- --- --- --- LOC101928516 101928516 broad.mit.edu 37 6 75053587 75053587 + RNA DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:75053587delG ENST00000435946.1 + 0 138 tgctcacgctgggagctgtag 0.483 2 4 --- --- --- --- LINC00271 100131814 broad.mit.edu 37 6 135952445 135952446 + RNA INS - - TT rs145087555 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:135952445_135952446insTT ENST00000421378.2 + 0 147 NR_026805.1 AGCAAACATTATTTTTTTGCCC 0.441 6 2 --- --- --- --- LOC100130476 100130476 broad.mit.edu 37 6 138178292 138178293 + RNA INS - - T rs59214750 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:138178292_138178293insT ENST00000606998.1 - 0 1056 RP11-356I2.4_ENST00000606327.1_RNA NR_049793.1 tcttcttcttcttttttttttt 0.475 2 4 --- --- --- --- RP1-111C20.4 0 broad.mit.edu 37 6 159448495 159448495 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr6:159448495delC ENST00000607391.1 + 0 416 RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA tacaattcatccatgtaacca 0.388 2 4 --- --- --- --- AC073333.8 0 broad.mit.edu 37 7 16754861 16754862 + RNA INS - - A rs67334479 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:16754861_16754862insA ENST00000418907.1 - 0 72 GAAAGCTGATTAAAACTGGCAA 0.441 3 4 --- --- --- --- LINC01162 104355138 broad.mit.edu 37 7 20984145 20984146 + RNA INS - - G rs71023403 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:20984145_20984146insG ENST00000447262.2 + 0 151 tcagggcataagggggggctgt 0.396 3 3 --- --- --- --- AC004540.5 0 broad.mit.edu 37 7 26494274 26494275 + RNA INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:26494274_26494275insG ENST00000418758.2 + 0 468 TGCCTTGGCAAGGGTCATCTTT 0.475 2 4 --- --- --- --- AC009262.2 0 broad.mit.edu 37 7 34256535 34256536 + RNA DEL GA GA - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:34256535_34256536delGA ENST00000446484.1 + 0 93 ggcagcaggtgagagagagaga 0.460 2 4 --- --- --- --- INHBA-AS1 285954 broad.mit.edu 37 7 41818977 41818978 + RNA INS - - A rs142523106 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:41818977_41818978insA ENST00000415848.2 + 0 2996_2997 NR_027118.1 TAAAAACCAACAAAAAAAAATG 0.366 4 4 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57698920 57698920 + RNA DEL G G - rs57933303 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:57698920delG ENST00000605139.1 - 0 416 gggATTTTATGGGGGTTCCAA 0.413 3 5 --- --- --- --- AC006378.2 0 broad.mit.edu 37 7 93636373 93636374 + RNA INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:93636373_93636374insG ENST00000426634.1 + 0 481 acataatttgtggggctcaggg 0.381 2 4 --- --- --- --- LINC01392 104355291 broad.mit.edu 37 7 114858256 114858257 + RNA INS - - AA rs3030502 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:114858256_114858257insAA ENST00000419883.1 - 0 173 GTGAATAACTCAGACTCATAGA 0.337 2 4 --- --- --- --- LOC101928283 101928283 broad.mit.edu 37 7 125005104 125005104 + RNA DEL T T - rs139922243 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:125005104delT ENST00000424515.2 + 0 1189 acatcgcctgttttttttttt 0.393 2 4 --- --- --- --- AC009784.3 0 broad.mit.edu 37 7 136087670 136087673 + RNA DEL AAAC AAAC - rs58548546 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:136087670_136087673delAAAC ENST00000445293.2 + 0 730 aatccttgataaacaacttttact 0.309 3 4 --- --- --- --- LOC349160 349160 broad.mit.edu 37 7 136499245 136499245 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:136499245delT ENST00000439694.1 - 0 343 AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA ctattattggtgtgtaggaat 0.373 2 4 --- --- --- --- U66061.31 0 broad.mit.edu 37 7 142421637 142421638 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:142421637_142421638insT ENST00000506718.1 + 0 401 CCAGAAAGCAGTGGTGAAGAAA 0.416 3 6 --- --- --- --- OR9A2 135924 broad.mit.edu 37 7 142723999 142724000 + Frame_Shift_Ins INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr7:142723999_142724000insT ENST00000350513.2 - 1 282_283 c.220_221insA c.(220-222)catfs p.H74fs NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) GACAATTATGGTTGTGACCAGG 0.480 19 124 --- --- --- --- RP11-317N12.1 0 broad.mit.edu 37 8 33866652 33866652 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:33866652delC ENST00000523336.1 + 0 99 RP1-273G13.3_ENST00000521714.1_lincRNA GGAGTTTCTTCCTGTTGATTC 0.468 2 4 --- --- --- --- LINC00293 497634 broad.mit.edu 37 8 47757055 47757056 + RNA INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:47757055_47757056insC ENST00000521715.1 + 0 296 NR_027013.1 AGTTAGCCCATCCCCTTGAAta 0.406 2 4 --- --- --- --- RP11-10H3.1 0 broad.mit.edu 37 8 50126721 50126722 + RNA INS - - CA rs56930356 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:50126721_50126722insCA ENST00000518222.1 + 0 271 agtgttgtcaccacacacacac 0.406 4 6 --- --- --- --- LOC102724612 102724612 broad.mit.edu 37 8 64379972 64379972 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:64379972delA ENST00000518739.1 + 0 422 CTGCATAGGCAAAATATACTA 0.318 2 4 --- --- --- --- RP11-157I4.4 0 broad.mit.edu 37 8 82362901 82362902 + RNA DEL TC TC - rs75082757 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:82362901_82362902delTC ENST00000524085.2 + 0 298 ctccatgggttctcaaatgttt 0.421 3 5 --- --- --- --- RP11-99H20.1 0 broad.mit.edu 37 8 83019591 83019592 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:83019591_83019592insT ENST00000520155.1 - 0 153 ATTTCATGTTATTTttttgttt 0.332 3 3 --- --- --- --- RP11-653B10.1 0 broad.mit.edu 37 8 83588935 83588935 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:83588935delA ENST00000522776.1 - 0 36 agcagagattaaaaaaaaaaa 0.303 2 4 --- --- --- --- LOC101927141 101927141 broad.mit.edu 37 8 83843882 83843883 + RNA DEL AC AC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:83843882_83843883delAC ENST00000522123.1 - 0 57 CTD-2272D18.1_ENST00000524359.1_lincRNA gttcacacatacacacacacac 0.332 4 6 --- --- --- --- CTB-118P15.2 0 broad.mit.edu 37 8 89017062 89017063 + RNA INS - - CA rs57436361 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:89017062_89017063insCA ENST00000518129.1 + 0 220 ATGGCCTATATcacacacacac 0.361 3 4 --- --- --- --- FLJ46284 441369 broad.mit.edu 37 8 93766613 93766616 + RNA DEL TTTG TTTG - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:93766613_93766616delTTTG ENST00000504861.2 - 0 140 RP11-100L22.2_ENST00000521148.1_RNA|RP11-100L22.2_ENST00000521230.1_RNA NR_046114.1 ATAtatacaatttgttagtttgct 0.382 3 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94598911 94598911 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:94598911delA ENST00000501400.1 - 0 948 NR_033858.1 agtccatatcaaaaaaaaaaa 0.423 4 8 --- --- --- --- C8orf37-AS1 100616530 broad.mit.edu 37 8 96457086 96457089 + RNA DEL AAAC AAAC - rs34956127 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:96457086_96457089delAAAC ENST00000521905.1 + 0 281 tccgtctcaaaaacaaacaaacaa 0.456 2 4 --- --- --- --- KB-1460A1.1 0 broad.mit.edu 37 8 102135249 102135249 + RNA DEL T T - rs71276943 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:102135249delT ENST00000524369.1 - 0 360 TATGGAGTTGttttttttttt 0.398 3 4 --- --- --- --- LINC01181 379034 broad.mit.edu 37 8 104136425 104136425 + RNA DEL T T - rs143123092 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:104136425delT ENST00000503718.2 + 0 182 ctttttttcattttttttttt 0.418 2 4 --- --- --- --- RP11-58O3.2 0 broad.mit.edu 37 8 112765850 112765853 + RNA DEL TATC TATC - rs66826443 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:112765850_112765853delTATC ENST00000522390.1 + 0 238 TCAAAATTAATATCTATCACTCCT 0.284 2 4 --- --- --- --- RP11-369K17.1 0 broad.mit.edu 37 8 122110887 122110887 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:122110887delT ENST00000517739.1 + 0 188 aAACCCAAAGTTTCAAAGTCT 0.398 2 4 --- --- --- --- RP11-89K10.1 0 broad.mit.edu 37 8 127655748 127655750 + RNA DEL AAC AAC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:127655748_127655750delAAC ENST00000519880.1 + 0 156 RP11-89K10.1_ENST00000520512.1_RNA caaacaaacaaacaaaAAACGCA 0.335 3 3 --- --- --- --- LOC101927845 101927845 broad.mit.edu 37 8 135890796 135890796 + RNA DEL T T - rs35543691 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:135890796delT ENST00000505083.1 + 0 1696 CCTCTCTCTCTTTTTTTTTAA 0.413 5 3 --- --- --- --- RP11-431D12.1 0 broad.mit.edu 37 8 137520237 137520238 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:137520237_137520238insA ENST00000523232.1 + 0 55 agtcataaaacaaaactaatta 0.252 2 4 --- --- --- --- RP11-431D12.1 0 broad.mit.edu 37 8 137529706 137529707 + RNA INS - - TA rs144505917 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:137529706_137529707insTA ENST00000523232.1 + 0 390 agccttgaaactgtgtagtaaa 0.455 9 4 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 138842530 138842542 + RNA DEL TGGGGCCATTTTA TGGGGCCATTTTA - rs140519175 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:138842530_138842542delTGGGGCCATTTTA ENST00000518973.1 - 0 680 gagatgggggtggggccattttataggatttgg 0.507 4 7 --- --- --- --- LOC401478 401478 broad.mit.edu 37 8 139061755 139061756 + RNA INS - - CA rs139336491 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:139061755_139061756insCA ENST00000518973.1 - 0 514 atacacaggcgcacacacacac 0.450 2 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142470389 142470390 + RNA INS - - T rs34187707 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr8:142470389_142470390insT ENST00000430863.1 - 0 2558 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TTTAATGCAGATTTTTTTTTTT 0.302 5 3 --- --- --- --- RFX3-AS1 101929302 broad.mit.edu 37 9 3560926 3560926 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:3560926delC ENST00000423112.2 + 0 190 ggttattttgcccattagttg 0.353 2 4 --- --- --- --- RP11-311H10.4 0 broad.mit.edu 37 9 33409527 33409528 + RNA INS - - T rs71506115 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:33409527_33409528insT ENST00000450864.1 + 0 286 AAtttccttccttttttttttt 0.465 3 6 --- --- --- --- LINC01508 101927873 broad.mit.edu 37 9 93173145 93173146 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:93173145_93173146insA ENST00000425666.1 - 0 59 tctctacaattaaaaaaaaaag 0.470 2 4 --- --- --- --- RP11-308N19.1 0 broad.mit.edu 37 9 109126005 109126006 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:109126005_109126006insT ENST00000435485.1 + 0 171 ttgatgtctgatttgggctgcc 0.426 2 4 --- --- --- --- LINC01505 100996590 broad.mit.edu 37 9 109407961 109407961 + RNA DEL A A - rs67401960 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:109407961delA ENST00000444985.2 + 0 451 AGCATCAAGTAAAAAAAATCT 0.343 6 4 --- --- --- --- LOC340512 340512 broad.mit.edu 37 9 109789417 109789418 + RNA DEL AT AT - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:109789417_109789418delAT ENST00000439901.1 - 0 455 tcctacacacatatgatatgtg 0.292 2 4 --- --- --- --- LOC340512 340512 broad.mit.edu 37 9 109807470 109807472 + RNA DEL CTC CTC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:109807470_109807472delCTC ENST00000439901.1 - 0 455 CTCTGTTCTTCTCAGATACATCA 0.493 3 5 --- --- --- --- LINC01509 101928720 broad.mit.edu 37 9 110183267 110183267 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr9:110183267delC ENST00000423523.1 - 0 271 TGGCcatccaccacccattaa 0.517 2 4 --- --- --- --- RP11-672F9.1 0 broad.mit.edu 37 10 38541284 38541285 + RNA INS - - C rs2749637 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:38541284_38541285insC ENST00000450980.1 + 0 144 AATCTCACTTGAATTTTTTTTT 0.441 3 3 --- --- --- --- CCSER2 54462 broad.mit.edu 37 10 86131381 86131390 + Frame_Shift_Del DEL CTCCTGTGCC CTCCTGTGCC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr10:86131381_86131390delCTCCTGTGCC ENST00000224756.8 + 2 758_767 c.573_582delCTCCTGTGCC c.(571-582)aafs p.NSCA191fs CCSER2_ENST00000359979.4_Frame_Shift_Del_p.NSCA191fs|CCSER2_ENST00000372088.2_Frame_Shift_Del_p.NSCA191fs NM_018999.2 NP_061872.2 coiled-coil serine-rich protein 2 CTAGAGCGAACTCCTGTGCCACCAGAAGCA 0.405 10 86 --- --- --- --- DNHD1 144132 broad.mit.edu 37 11 6567895 6567896 + In_Frame_Ins INS - - TGCCCTACTGCA rs35685553 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:6567895_6567896insTGCCCTACTGCA ENST00000254579.6 + 21 6290_6291 c.5726_5727insTGCCCTACTGCA c.(5725-5727)ggc>gTGCCCTACTGCAgc p.1909_1909G>VPYCS DNHD1_ENST00000527990.2_In_Frame_Ins_p.1909_1909G>VPYCS NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 1909 A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845). microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ATTGAGGAGGCTGCCCTACTGC 0.559 3 4 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 13994487 13994488 + RNA DEL TC TC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:13994487_13994488delTC ENST00000310358.7 + 0 776 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) ggtcattccatctctctctctc 0.500 3 3 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46880747 46880748 + Frame_Shift_Ins INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:46880747_46880748insC ENST00000378623.1 - 38 5746_5747 c.5504_5505insG c.(5503-5505)gctfs p.A1835fs LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1835 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CCCGGAGGAGGCCCCCCCGTGA 0.564 7 56 --- --- --- --- C11orf97 643037 broad.mit.edu 37 11 94258979 94258979 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:94258979delA ENST00000542198.1 + 0 198 GAAAGGAACTAAAATATTTTT 0.378 2 4 --- --- --- --- AMOTL1 154810 broad.mit.edu 37 11 94449402 94449403 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:94449402_94449403insT ENST00000536540.1 - 0 52 RP11-867G2.8_ENST00000537874.1_RNA ggaattgtgtgtttttgatgtg 0.277 2 4 --- --- --- --- LOC101928823 101928823 broad.mit.edu 37 11 112320635 112320636 + RNA INS - - T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:112320635_112320636insT ENST00000528496.1 + 0 231 gtttggtctccttttttattct 0.351 2 4 --- --- --- --- AP000797.3 0 broad.mit.edu 37 11 115709563 115709564 + RNA INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:115709563_115709564insC ENST00000539305.1 + 0 163 TGAAATGTCCACCCCCTTCCTC 0.371 2 4 --- --- --- --- AP000797.4 0 broad.mit.edu 37 11 115812222 115812223 + RNA DEL GT GT - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr11:115812222_115812223delGT ENST00000537491.1 + 0 293 gcgtgcgtgcgtgtgtgtgtgt 0.465 3 4 --- --- --- --- SSPN 8082 broad.mit.edu 37 12 26447409 26447409 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:26447409delT ENST00000540392.1 - 0 130 RP11-283G6.5_ENST00000540625.1_RNA cccagaaatctttttttaaca 0.383 2 4 --- --- --- --- RP11-123O10.4 0 broad.mit.edu 37 12 67404596 67404597 + RNA INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:67404596_67404597insC ENST00000535721.1 - 0 113 aaacactgtctcccccccagcg 0.564 4 7 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76026343 76026343 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:76026343delT ENST00000552856.1 - 0 401 TAAGTCATGGTGCTCACAACA 0.363 2 4 --- --- --- --- RP11-511B23.2 0 broad.mit.edu 37 12 93579520 93579523 + RNA DEL GTGA GTGA - rs60747570 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:93579520_93579523delGTGA ENST00000547432.1 - 0 316 RP11-511B23.2_ENST00000549930.1_RNA gtgtgtgtgtgtgagagagagaga 0.461 4 4 --- --- --- --- RMST 196475 broad.mit.edu 37 12 97835074 97835074 + RNA DEL A A - rs35296748 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:97835074delA ENST00000538559.2 + 0 282 gaaaaaagtgaaaaaaaaaaa 0.383 3 3 --- --- --- --- FAM101A 144347 broad.mit.edu 37 12 124577305 124577306 + RNA INS - - G rs143330691 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr12:124577305_124577306insG ENST00000540762.1 + 0 247 atggtgatgatgtgatgatggt 0.446 3 3 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78998898 78998898 + RNA DEL C C - rs71895674 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:78998898delC ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA tcaaaaaaaacagaaagaaag 0.498 2 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101498918 101498918 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:101498918delA ENST00000457843.1 + 0 141 NR_047687.1 ATTGCTCCTTAGGTAGTATTG 0.423 4 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101689280 101689280 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr13:101689280delA ENST00000457843.1 + 0 394 NR_047687.1 ATTGCCCTGGAAAAAAAAAAT 0.458 2 4 --- --- --- --- LOC728755 728755 broad.mit.edu 37 14 28118772 28118772 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:28118772delA ENST00000553392.1 - 0 262 gcaattcctcaaggatctaga 0.403 2 4 --- --- --- --- FOXG1-AS1 103695363 broad.mit.edu 37 14 29225302 29225305 + RNA DEL GAAG GAAG - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:29225302_29225305delGAAG ENST00000551395.1 - 0 278 RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA agcagggaaagaaggaaggaagga 0.475 3 4 --- --- --- --- RP11-58E21.5 0 broad.mit.edu 37 14 50512406 50512406 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:50512406delC ENST00000556019.2 - 0 309 GTGGAATCTTCCAGTGCCTCT 0.478 2 4 --- --- --- --- GALC 2581 broad.mit.edu 37 14 88317364 88317365 + RNA DEL TC TC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:88317364_88317365delTC ENST00000554305.1 - 0 17 tctctttctttctctctctctc 0.391 2 4 --- --- --- --- RP11-1029J19.5 0 broad.mit.edu 37 14 102136157 102136158 + RNA INS - - A rs113895794 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr14:102136157_102136158insA ENST00000557778.1 - 0 55 gtgctgaagggaaaaaaaaaaa 0.366 3 3 --- --- --- --- LINC01193 348120 broad.mit.edu 37 15 21163056 21163056 + RNA DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:21163056delG ENST00000553416.1 + 0 515 NR_040094.1 ACTGCCAATTGGGCAACATGG 0.353 5 2 --- --- --- --- LOC101927079 101927079 broad.mit.edu 37 15 22310229 22310230 + RNA INS - - T rs139039355 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:22310229_22310230insT ENST00000558896.1 + 0 99 ggttttagttatttttttttct 0.317 3 3 --- --- --- --- RP11-184D12.1 0 broad.mit.edu 37 15 36460286 36460287 + RNA INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:36460286_36460287insG ENST00000561394.1 - 0 136 atgcatTtgttggggggcaatt 0.322 2 4 --- --- --- --- CPEB1-AS1 283692 broad.mit.edu 37 15 83325523 83325524 + RNA INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:83325523_83325524insC ENST00000560650.1 + 0 1328 NR_046096.1 TGGGGAAAATGCCCCCGGGGGA 0.584 2 4 --- --- --- --- LINC01197 400456 broad.mit.edu 37 15 95837790 95837790 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr15:95837790delT ENST00000508732.2 - 0 271 NR_034095.1 CTATGAACAAttttttttttt 0.488 2 4 --- --- --- --- LOC101927009 101927009 broad.mit.edu 37 16 9495345 9495347 + RNA DEL ATC ATC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:9495345_9495347delATC ENST00000564305.1 + 0 193 catcaccattatcatcataatct 0.414 4 4 --- --- --- --- U91319.1 0 broad.mit.edu 37 16 13626426 13626427 + RNA INS - - TGTGTGTG TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:13626426_13626427insTGTGTGTG ENST00000571619.1 + 0 552 gtgtgtgtgtgtgtgtgtgtgt 0.455 5 6 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 33037352 33037352 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:33037352delT ENST00000567619.1 - 0 499 TAAATGACAATGAATTTTTTT 0.388 2 4 --- --- --- --- RP11-23E10.2 0 broad.mit.edu 37 16 33353318 33353318 + RNA DEL A A - rs76361024 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:33353318delA ENST00000568893.1 - 0 231 agcctgtctcaaaaaaaaaat 0.468 4 2 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 59965383 59965396 + RNA DEL ACACACACACACAC ACACACACACACAC - rs67194799 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:59965383_59965396delACACACACACACAC ENST00000568279.1 + 0 173 caataacaaaacacacacacacacacacacacac 0.379 4 4 --- --- --- --- LOC101927650 101927650 broad.mit.edu 37 16 65184642 65184643 + RNA INS - - A rs142103585 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:65184642_65184643insA ENST00000563754.1 - 0 406 AAACATGAAATAAAAAATCTAC 0.366 3 5 --- --- --- --- LOC101927650 101927650 broad.mit.edu 37 16 65206864 65206871 + RNA DEL TGTGTGTG TGTGTGTG - rs71905884 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:65206864_65206871delTGTGTGTG ENST00000563754.1 - 0 406 tatatgaacttgtgtgtgtgtgtgtgtg 0.365 3 3 --- --- --- --- PLA2G15 23659 broad.mit.edu 37 16 68289854 68289855 + Frame_Shift_Ins INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:68289854_68289855insG ENST00000219345.5 + 5 771_772 c.688_689insG c.(688-690)gggfs p.G230fs PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.R188fs|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.G136fs NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 230 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 GGGTGCGCCCTGGGGGGGCGTG 0.629 3 4 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80204004 80204004 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:80204004delC ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568776.1_RNA GCAGCCTGTTCCCCCCCCGAC 0.373 2 4 --- --- --- --- LOC102724344 102724344 broad.mit.edu 37 16 86768119 86768120 + RNA INS - - C TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr16:86768119_86768120insC ENST00000562064.1 + 0 156 TCTTCCTGCGTCCCCCCGCGTC 0.480 2 4 --- --- --- --- MYHAS 100128560 broad.mit.edu 37 17 10377347 10377347 + RNA DEL C C - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:10377347delC ENST00000587182.1 + 0 155 CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA ttggatgtgtccacagaaaag 0.393 3 4 --- --- --- --- RP5-1110E20.1 0 broad.mit.edu 37 17 39016705 39016705 + RNA DEL T T - rs72397610 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:39016705delT ENST00000579136.1 + 0 61 ttttttttgcttttttttttt 0.423 5 6 --- --- --- --- CTC-501O10.1 0 broad.mit.edu 37 17 41762306 41762306 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:41762306delA ENST00000593169.1 + 0 93 gagggtagggaggtgacccag 0.577 2 4 --- --- --- --- NFE2L1 4779 broad.mit.edu 37 17 46135787 46135788 + Frame_Shift_Ins INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:46135787_46135788insG ENST00000362042.3 + 6 1719_1720 c.1103_1104insG c.(1102-1104)cggfs p.R368fs NFE2L1_ENST00000583378.1_Frame_Shift_Ins_p.R169fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.R338fs|NFE2L1_ENST00000536222.1_Frame_Shift_Ins_p.R212fs|NFE2L1_ENST00000582155.1_Frame_Shift_Ins_p.R180fs|NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.R357fs NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 368 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGGCGTCCCTGGGGGGCTGCA 0.604 7 233 --- --- --- --- LOC101927274 101927274 broad.mit.edu 37 17 49394226 49394226 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:49394226delA ENST00000514726.1 - 0 1547 tttcatttgtaacaggacaga 0.343 2 4 --- --- --- --- LINC01482 101928104 broad.mit.edu 37 17 66624631 66624632 + RNA DEL TG TG - rs78155060 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:66624631_66624632delTG ENST00000585484.1 + 0 33 tcctcaaaactgtttatctttc 0.421 8 5 --- --- --- --- RP11-101O21.1 0 broad.mit.edu 37 17 72127926 72127927 + RNA INS - - ACAG rs148562643 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr17:72127926_72127927insACAG ENST00000584003.1 - 0 163 gacccaaagaaacaaacccatg 0.421 3 3 --- --- --- --- MIR3976HG 645355 broad.mit.edu 37 18 5750566 5750566 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:5750566delT ENST00000566533.1 + 0 146 NR_038839.1 GTCAAATTCATTGCTTGCTAC 0.438 2 4 --- --- --- --- LOC101927571 101927571 broad.mit.edu 37 18 20432245 20432248 + RNA DEL TGTG TGTG - rs55768040 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:20432245_20432248delTGTG ENST00000583086.1 - 0 84 RP11-739L10.1_ENST00000578831.1_RNA cactttgggctgtgtgtgtgtgtg 0.353 3 3 --- --- --- --- RP11-403A21.1 0 broad.mit.edu 37 18 21545580 21545581 + RNA INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:21545580_21545581insG ENST00000582300.1 - 0 183 tgaagaggtgagggggcaggaa 0.495 2 4 --- --- --- --- CTD-2515C13.2 0 broad.mit.edu 37 18 26911116 26911117 + RNA INS - - GA rs145175330 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:26911116_26911117insGA ENST00000577674.1 - 0 80 tgatccattgtgagactttata 0.386 2 4 --- --- --- --- DSCAS 101927698 broad.mit.edu 37 18 28696154 28696154 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:28696154delA ENST00000581836.1 + 0 208 ACTTATCCTCAAAtggagaaa 0.413 2 4 --- --- --- --- RP11-746B8.1 0 broad.mit.edu 37 18 30480912 30480913 + RNA INS - - ACACAC rs5823881 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr18:30480912_30480913insACACAC ENST00000580366.1 + 0 27 CCCTGCAGATAacacacacaca 0.441 2 4 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9362217 9362217 + Frame_Shift_Del DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:9362217delT ENST00000456448.1 + 1 612 c.498delT c.(496-498)tcfs p.S166fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCTTGTTGTCTTTTTTTATTA 0.443 14 33 --- --- --- --- ZNF833P 401898 broad.mit.edu 37 19 11775607 11775609 + RNA DEL AAT AAT - rs150757235 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:11775607_11775609delAAT ENST00000344893.3 + 0 880 NR_028594.1 endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 CAGATGAGTCAATAACCCTGGCT 0.547 7 3 --- --- --- --- CTD-2189E23.1 0 broad.mit.edu 37 19 14403996 14403997 + RNA DEL TC TC - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:14403996_14403997delTC ENST00000592263.1 - 0 20_21 CTCCCAACCTTCTCTCTCTCTC 0.574 2 4 --- --- --- --- CTD-2050I18.1 0 broad.mit.edu 37 19 32038894 32038897 + RNA DEL TTAC TTAC - rs76472340 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:32038894_32038897delTTAC ENST00000593063.1 + 0 282 atccatccatttactcatccatcc 0.485 2 4 --- --- --- --- RP11-15A1.2 0 broad.mit.edu 37 19 44408808 44408809 + RNA INS - - A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr19:44408808_44408809insA ENST00000586247.1 + 0 144 gataaaagaccaaaaacacaaa 0.332 2 4 --- --- --- --- RP11-103J8.1 0 broad.mit.edu 37 20 10746970 10746971 + RNA DEL AA AA - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:10746970_10746971delAA ENST00000605292.1 + 0 98 actccatctcaaaaaaaaaaaa 0.436 2 4 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21148055 21148055 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:21148055delT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA CCCTTATACCTTCACCATCTG 0.458 2 4 --- --- --- --- LINC00261 140828 broad.mit.edu 37 20 22538127 22538128 + RNA DEL TG TG - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:22538127_22538128delTG ENST00000420070.1 - 0 155 ACCGGAAGGCtgtgtgtgtgtg 0.554 3 6 --- --- --- --- NCOR1P1 149934 broad.mit.edu 37 20 26093824 26093825 + RNA INS - - GT rs144355995 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:26093824_26093825insGT ENST00000478176.1 - 0 150 NR_003678.1 acaggaacaacaagaatgtcca 0.391 4 5 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29595845 29595845 + RNA DEL A A - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr20:29595845delA ENST00000432067.1 - 0 74 acacagtgagaccttgtccct 0.473 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11093134 11093135 + RNA INS - - C rs141935972 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:11093134_11093135insC 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) GTTCTCCCCTACCCCCCACAAC 0.401 4 7 --- --- --- --- AL157359.3 0 broad.mit.edu 37 21 20335455 20335455 + RNA DEL T T - rs71318169 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:20335455delT ENST00000449840.1 - 0 111 AATTATATCATTTTTAGCCTT 0.294 3 3 --- --- --- --- AP000233.4 0 broad.mit.edu 37 21 26553098 26553099 + RNA INS - - A rs144546782 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:26553098_26553099insA ENST00000409758.1 - 0 89 TCAATGAAAATAGAGATGAATG 0.366 5 3 --- --- --- --- AP000233.4 0 broad.mit.edu 37 21 26555324 26555327 + RNA DEL GTGT GTGT - rs72284829 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:26555324_26555327delGTGT ENST00000409758.1 - 0 89 ACTGAATATAgtgtgtgtgtgtgt 0.363 3 3 --- --- --- --- LINC00113 54088 broad.mit.edu 37 21 29112694 29112694 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:29112694delT ENST00000442550.1 + 0 83 AGAGTTCTACTTTTTATCCAG 0.398 2 4 --- --- --- --- AJ006995.3 0 broad.mit.edu 37 21 29329952 29329953 + RNA INS - - A rs34167389 by1000genomes TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr21:29329952_29329953insA ENST00000433344.1 + 0 102 TCTTCGTGATGataccaaatta 0.243 3 3 --- --- --- --- RP1-213J1P__B.1 0 broad.mit.edu 37 22 28107042 28107042 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chr22:28107042delT ENST00000440255.1 - 0 90 gtgagctccctgttggggaat 0.542 2 4 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42198545 42198545 + RNA DEL G G - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:42198545delG ENST00000411879.1 + 0 193 gatcagtggtgatatcccctt 0.299 2 4 --- --- --- --- RP1-154K9.2 0 broad.mit.edu 37 X 42271394 42271395 + RNA INS - - T rs111695385 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:42271394_42271395insT ENST00000411879.1 + 0 193 ttcccttaacattttttttcat 0.421 6 8 --- --- --- --- LINC01420 550643 broad.mit.edu 37 X 56776900 56776901 + RNA INS - - A rs76134317 TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:56776900_56776901insA ENST00000374922.4 + 0 468 NR_015367.2 ctgggttaaataaaaaaaatat 0.411 5 1 --- --- --- --- FRMPD3 84443 broad.mit.edu 37 X 106845402 106845403 + Frame_Shift_Ins INS - - G TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:106845402_106845403insG ENST00000276185.4 + 16 4232_4233 c.4232_4233insG c.(4231-4233)tggfs p.W1411fs Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1411 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ACGTGTGCCTCGGGGGGCGAGT 0.609 7 84 --- --- --- --- RP1-30E17.2 0 broad.mit.edu 37 X 127577461 127577461 + RNA DEL T T - TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca24ac3d-4686-4f0c-a47d-0eff92a623b1 27740118-e4db-49b9-a2d6-8d598f36a2fc g.chrX:127577461delT ENST00000449485.1 - 0 158 CCCTGCTACATTTTTTTGATT 0.333 2 4 --- --- --- ---