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 CNKSR1 10256 broad.mit.edu 37 1 26514781 26514781 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:26514781C>T ENST00000531191.1 + 16 1744 c.737C>T c.(736-738)cCc>cTc p.P246L CNKSR1_ENST00000374253.5_Missense_Mutation_p.P511L|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P504L Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 511 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GGCCGGGCCCCCCCACCCCGA 0.602000 15 40 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976146 41976146 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:41976146C>T ENST00000372584.1 - 8 8208 c.7194G>A c.(7192-7194)gaG>gaA p.E2398E HIVEP3_ENST00000429157.2_Silent_p.E2398E|HIVEP3_ENST00000372583.1_Silent_p.E2399E|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.E2399E NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2399 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GAACCCTGTCCTCAGGCTGAT 0.612000 6 9 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 75 0 0 1 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924119 45924119 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:45924119C>T ENST00000395629.2 + 5 1101 c.771C>T c.(769-771)atC>atT p.I257I MAPK8IP1_ENST00000241014.2_Silent_p.I267I Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 267 JNK-binding domain (JBD). vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) GAGACCGAATCCACTACCAGG 0.687000 10 37 0 0 1 0 0 CLTB 1212 broad.mit.edu 37 5 175823530 175823530 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:175823530G>A ENST00000310418.4 - 5 673 c.468C>T c.(466-468)atC>atT p.I156I CLTB_ENST00000345807.2_Intron NM_007097.3 NP_009028.1 P09497 CLCB_HUMAN clathrin, light chain B 156 intracellular protein transport|vesicle-mediated transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle protein binding|structural molecule activity lung(1) 1 all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.098) CTTTGTCAGCGATCCTTgagg 0.532000 11 27 0 0 1 0 0 FAM3B 54097 broad.mit.edu 37 21 42694977 42694977 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr21:42694977G>A ENST00000398652.3 + 3 330 c.264G>A c.(262-264)gaG>gaA p.E88E FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.E72E|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000357985.2_Silent_p.E49E P58499 FAM3B_HUMAN family with sequence similarity 3, member B 49 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GCATCGGGGAGAGGCCTGTCC 0.612000 26 57 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40419772 40419772 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:40419772G>A ENST00000221347.6 - 6 3229 c.3222C>T c.(3220-3222)ccC>ccT p.P1074P NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1074 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACTCCCGGAAGGGCCCCTTGG 0.642000 40 79 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70954580 70954580 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:70954580C>T ENST00000334414.6 - 17 4347 c.4303G>A c.(4303-4305)Gaa>Aaa p.E1435K PTPRB_ENST00000551525.1_Missense_Mutation_p.E1434K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1127K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1127K|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1217K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1127K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1347K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1217 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTCCAGTTTTCCTTCTTTGTG 0.498000 16 46 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1437288 1437288 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:1437288G>A ENST00000345913.4 + 4 349 c.258G>A c.(256-258)gtG>gtA p.V86V TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Silent_p.V86V|TPO_ENST00000346956.3_Silent_p.V86V|TPO_ENST00000337415.3_Silent_p.V86V|TPO_ENST00000382269.3_Silent_p.V86V|TPO_ENST00000329066.4_Silent_p.V86V|TPO_ENST00000382201.3_Silent_p.V86V|TPO_ENST00000349624.3_Silent_p.V86V|TPO_ENST00000382198.1_Silent_p.V86V NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 86 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CAAGCGGAGTGATTGCCCGAG 0.418000 15 26 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47454723 47454723 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:47454723G>A ENST00000398879.1 - 11 921 c.555C>T c.(553-555)ctC>ctT p.L185L TNS3_ENST00000355730.3_Silent_p.L185L|TNS3_ENST00000311160.9_Silent_p.L185L|TNS3_ENST00000442536.2_Silent_p.L185L|TNS3_ENST00000458317.2_Silent_p.L185L Q68CZ2 TENS3_HUMAN tensin 3 185 C2 tensin-type. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GGGTGCCGTGGAGGATGACAA 0.587000 9 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9010668 9010668 + Missense_Mutation SNP G G A rs12971602 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:9010668G>A ENST00000397910.4 - 38 39196 c.38993C>T c.(38992-38994)tCc>tTc p.S12998F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13000 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 GGGGAGGGAGGATGGAGTCCC 0.502000 3 20 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434846 42434846 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:42434846G>A ENST00000397272.3 - 19 2306 c.2215C>T c.(2215-2217)Cct>Tct p.P739S PLA2G4F_ENST00000382396.4_Missense_Mutation_p.P737S NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 737 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ATGTCCTCAGGGCCCACCTCG 0.587000 30 21 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021683 51021683 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:51021683C>T ENST00000599957.1 - 3 1484 c.1287G>A c.(1285-1287)caG>caA p.Q429Q LRRC4B_ENST00000389201.3_Silent_p.Q429Q Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 429 Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GGCCCGTGTCCTGCACGGTGA 0.677000 27 51 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802912 159802912 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:159802912A>G ENST00000289707.5 + 3 763 c.614A>G c.(613-615)aAc>aGc p.N205S SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.N96S NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 205 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) ATTGTCTCCAACCCTGTCAGC 0.547000 28 63 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160098530 160098530 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:160098530C>T ENST00000361216.3 + 9 1195 c.1106C>T c.(1105-1107)tCc>tTc p.S369F ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.S369F NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 369 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGCTCCACGTCCACCATCTGC 0.602000 45 85 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1487193 1487193 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:1487193C>T ENST00000300954.5 - 7 863 c.802G>A c.(802-804)Gtg>Atg p.V268M NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 268 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCGTCCACCGTGCGGCCG 0.697000 10 20 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45644574 45644574 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:45644574G>A ENST00000267430.5 + 14 2702 c.2617G>A c.(2617-2619)Ggt>Agt p.G873S FANCM_ENST00000542564.2_Missense_Mutation_p.G847S NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 873 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AAATAATCACGGTATTATAGA 0.259000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 17 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 369909 369909 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:369909C>T ENST00000256509.2 + 5 899 c.257C>T c.(256-258)tCg>tTg p.S86L CHL1_ENST00000397491.2_Missense_Mutation_p.S86L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 86 Ig-like C2-type 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATAATTCCATCGAACAATTCA 0.383000 27 45 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156124379 156124379 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:156124379C>T ENST00000368285.3 + 2 277 c.10C>T c.(10-12)Cca>Tca p.P4S SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P4S|SEMA4A_ENST00000368282.1_Missense_Mutation_p.P4S|SEMA4A_ENST00000368286.2_5'UTR NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 4 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CATGGCCCTCCCAGCCCTGGG 0.667000 5 17 0 0 1 0 0 ORC2 4999 broad.mit.edu 37 2 201785843 201785843 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:201785843G>A ENST00000234296.2 - 14 1416 c.1167C>T c.(1165-1167)ttC>ttT p.F389F NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 389 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 GGATGAGAAGGAAGAGTTCTA 0.363000 20 16 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10478756 10478756 + Missense_Mutation SNP G G A rs150331673 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:10478756G>A ENST00000525621.1 - 5 921 c.440C>T c.(439-441)gCc>gTc p.A147V TYK2_ENST00000264818.6_Missense_Mutation_p.A147V|TYK2_ENST00000529370.1_Missense_Mutation_p.A147V|TYK2_ENST00000524462.1_Intron NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 147 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CTCAAATGAGGCTGGGTCCAG 0.587000 15 21 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40419773 40419773 + Missense_Mutation SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:40419773G>T ENST00000221347.6 - 6 3228 c.3221C>A c.(3220-3222)cCc>cAc p.P1074H NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1074 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTCCCGGAAGGGCCCCTTGGG 0.642000 39 79 2.87052e-16 2.9419e-16 1 1 0 KALRN 8997 broad.mit.edu 37 3 123983355 123983355 + Missense_Mutation SNP T T A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:123983355T>A ENST00000360013.3 + 4 395 c.268T>A c.(268-270)Tgc>Agc p.C90S KALRN_ENST00000240874.3_Missense_Mutation_p.C90S|KALRN_ENST00000460856.1_Missense_Mutation_p.C90S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 90 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 TGAGGACGTGTGCAAACGTGG 0.557000 14 25 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30954253 30954253 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:30954253T>C ENST00000295055.8 - 21 2116 c.1940A>G c.(1939-1941)aAc>aGc p.N647S CAPN13_ENST00000534090.2_Missense_Mutation_p.N647S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 647 EF-hand 2. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CTTAGAGAGGTTGCGGAAGGT 0.562000 10 17 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390085 150390085 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:150390085G>A ENST00000223293.5 + 3 805 c.711G>A c.(709-711)aaG>aaA p.K237K NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 237 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAAGAGTAAAGGAATTCAAAC 0.398000 17 48 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57334169 57334169 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:57334169C>T ENST00000326441.9 - 6 880 c.517G>A c.(517-519)Gac>Aac p.D173N PEG3_ENST00000598410.1_Missense_Mutation_p.D48N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D48N|PEG3_ENST00000593695.1_Missense_Mutation_p.D47N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D48N|PEG3_ENST00000423103.2_Missense_Mutation_p.D173N|ZIM2_ENST00000593931.1_Missense_Mutation_p.D48N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D48N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D48N|ZIM2_ENST00000391708.3_Missense_Mutation_p.D48N NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 173 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGCTCCATGTCTCTGCTTCTG 0.532000 12 23 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215865727 215865727 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:215865727G>A ENST00000272895.7 - 22 3100 c.2881C>T c.(2881-2883)Cct>Tct p.P961S ABCA12_ENST00000389661.4_Missense_Mutation_p.P643S NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 961 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTGTTAGAAGGAAGCTTAAAA 0.403000 35 31 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182456 57182456 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:57182456C>T ENST00000504228.1 + 6 2893 c.2788C>T c.(2788-2790)Cct>Tct p.P930S KIAA1211_ENST00000541073.1_Missense_Mutation_p.P923S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P930S Q6ZU35 K1211_HUMAN KIAA1211 930 Pro-rich. 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) CCGCTCTGTTCCTGTGGCCCA 0.652000 28 33 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572878 38572878 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:38572878T>C ENST00000222345.6 + 3 1182 c.673T>C c.(673-675)Ttc>Ctc p.F225L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 225 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCTGAACGAGTTCCGCAGCGA 0.701000 20 80 0 0 1 0 0 PRRT2 112476 broad.mit.edu 37 16 29825173 29825173 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:29825173G>A ENST00000300797.6 + 2 972 c.798G>A c.(796-798)cgG>cgA p.R266R PRRT2_ENST00000358758.7_Silent_p.R266R|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Silent_p.R266R Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 266 response to biotic stimulus integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 AGAAACCTCGGGACTACATCA 0.627000 33 47 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30966311 30966311 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:30966311C>T ENST00000295055.8 - 13 1559 c.1383G>A c.(1381-1383)caG>caA p.Q461Q CAPN13_ENST00000534090.2_Silent_p.Q461Q NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 461 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TTCTCCGTGTCTGTGCAACCA 0.453000 55 106 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170218 113170218 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:113170218G>A ENST00000401783.2 - 38 7998 c.7662C>T c.(7660-7662)atC>atT p.I2554I SVEP1_ENST00000297826.5_Silent_p.I480I|SVEP1_ENST00000374469.1_Silent_p.I2531I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2554 Sushi 20. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATCACAGTGGATGGCATTGC 0.493000 13 8 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111667778 111667778 + Splice_Site SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:111667778G>T ENST00000431670.2 + 10 2898 c.e10-1 PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CCTCCTTTTAGGGCTATATCA 0.438000 19 53 5.03518e-11 5.14213e-11 1 1 0 NELFE 7936 broad.mit.edu 37 6 31922134 31922134 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:31922134G>A ENST00000375429.3 - 8 1054 c.828C>T c.(826-828)ctC>ctT p.L276L NELFE_ENST00000375425.5_Silent_p.L283L|NELFE_ENST00000444811.2_Silent_p.L246L NM_002904.5 NP_002895.3 negative elongation factor complex member E AGGCCCCACGGAGAAGGGTGG 0.507000 42 80 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95080859 95080859 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:95080859C>T ENST00000553947.1 + 5 1044 c.156C>T c.(154-156)agC>agT p.S52S SERPINA3_ENST00000467132.1_Silent_p.S27S|SERPINA3_ENST00000393080.4_Silent_p.S27S|SERPINA3_ENST00000393078.3_Silent_p.S27S|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 27 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACCCTAACAGCCCACTTGACG 0.567000 40 82 0 0 1 0 0 PANK3 79646 broad.mit.edu 37 5 167990967 167990967 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:167990967C>T ENST00000239231.6 - 4 1055 c.739G>A c.(739-741)Gac>Aac p.D247N PANK3_ENST00000520504.1_Intron NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 247 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) ACCAGCTTGTCAGCTTGTGTG 0.418000 39 82 0 0 1 0 0 SSR4 6748 broad.mit.edu 37 X 153062924 153062924 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:153062924C>T ENST00000320857.3 + 4 1282 c.198C>T c.(196-198)ctC>ctT p.L66L SSR4_ENST00000370086.3_Silent_p.L66L|SSR4_ENST00000370085.3_Intron|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370087.1_Silent_p.L66L NM_001204526.1 NP_001191455.1 P51571 SSRD_HUMAN signal sequence receptor, delta 66 intracellular protein transport integral to membrane|Sec61 translocon complex calcium ion binding|protein binding central_nervous_system(1)|endometrium(1)|lung(2) 4 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) ACATGGCTCTCTATGCTGACG 0.612000 29 4 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115091186 115091186 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:115091186C>T ENST00000361283.1 + 3 2178 c.1869C>T c.(1867-1869)aaC>aaT p.N623N NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 623 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding AGAAAGACAACCAAGAGAGCT 0.388000 30 58 0 0 1 0 0 MAP2K3 5606 broad.mit.edu 37 17 21205466 21205466 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:21205466G>A ENST00000342679.4 + 6 660 c.411G>A c.(409-411)tgG>tgA p.W137* MAP2K3_ENST00000361818.5_Nonsense_Mutation_p.W108*|MAP2K3_ENST00000316920.6_Nonsense_Mutation_p.W108* NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 137 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GAGACGTGTGGATCTGCATGG 0.597000 6 55 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189060977 189060977 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:189060977G>A ENST00000332517.3 + 1 405 c.265G>A c.(265-267)Gag>Aag p.E89K NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 89 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GCTGCAGAGCGAGGATGAGCA 0.662000 25 65 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146658627 146658627 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:146658627C>T ENST00000254090.4 - 9 1842 c.1454G>A c.(1453-1455)cGa>cAa p.R485Q RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron|FMO5_ENST00000369272.3_3'UTR NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 485 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) GATAGCTTTTCGAGCCCCATC 0.493000 21 38 0 0 1 0 0 DAPL1 92196 broad.mit.edu 37 2 159672219 159672219 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:159672219C>T ENST00000309950.3 + 4 266 c.210C>T c.(208-210)ctC>ctT p.L70L DAPL1_ENST00000409042.1_Intron NM_001017920.2 NP_001017920.2 A0PJW8 DAPL1_HUMAN death associated protein-like 1 70 apoptosis|cell differentiation prostate(1) 1 ACCTTTAGCTCAACTATAAAT 0.393000 34 91 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144880851 144880851 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:144880851G>A ENST00000369359.4 - 29 4223 c.4185C>T c.(4183-4185)tcC>tcT p.S1395S PDE4DIP_ENST00000369356.4_Silent_p.S1259S|PDE4DIP_ENST00000369354.3_Silent_p.S1259S|PDE4DIP_ENST00000313382.9_Silent_p.S1215S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.S1395S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1259 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTCACCAAGGATTCACCTG 0.527000 T PDGFRB MPD 28 158 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58117725 58117725 + Missense_Mutation SNP C C T rs144027172 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:58117725C>T ENST00000332854.6 + 3 1052 c.832C>T c.(832-834)Cgc>Tgc p.R278C ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATCATTTAGTCGCAAAACTCA 0.438000 35 43 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419525 10419525 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:10419525C>T ENST00000226207.5 - 4 433 c.339G>A c.(337-339)tgG>tgA p.W113* CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 113 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CGTAGATCATCCAGGCTGCGT 0.438000 63 62 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113933893 113933893 + Silent SNP A A T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:113933893A>T ENST00000297405.5 - 10 1840 c.1596T>A c.(1594-1596)gtT>gtA p.V532V CSMD3_ENST00000455883.2_Silent_p.V428V|CSMD3_ENST00000352409.3_Silent_p.V532V|CSMD3_ENST00000343508.3_Silent_p.V492V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 532 Sushi 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAGCAGCAAAAACTTCAGCTA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086616 9086616 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:9086616G>A ENST00000397910.4 - 1 5402 c.5199C>T c.(5197-5199)tcC>tcT p.S1733S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1733 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTTCAAGAGAGGAGGAGAGAG 0.493000 27 41 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059700 152059700 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:152059700C>T ENST00000368806.1 - 3 522 c.458G>A c.(457-459)gGa>gAa p.G153E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 153 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCTGTTATTTCCAACTGCTCC 0.463000 24 40 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101348269 101348269 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:101348269C>T ENST00000534062.1 - 1 2915 c.2857G>A c.(2857-2859)Gat>Aat p.D953N MIR433_ENST00000384837.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 953 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GAGGCTAGATCCTCTGTGTTG 0.527000 41 61 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61815503 61815503 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:61815503C>T ENST00000280772.1 - 42 13169 c.12978G>A c.(12976-12978)atG>atA p.M4326I ANK3_ENST00000355288.2_Missense_Mutation_p.M950I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1817I|ANK3_ENST00000373827.2_Missense_Mutation_p.M1810I NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4326 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCATCTTTTTCATACTGACAG 0.463000 78 51 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3451098 3451098 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:3451098G>A ENST00000382774.3 + 14 2035 c.1920G>A c.(1918-1920)tgG>tgA p.W640* HGFAC_ENST00000511533.1_Nonsense_Mutation_p.W647* NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 640 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) ATGTGGACTGGATCAACGACC 0.642000 22 48 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142611874 142611874 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:142611874C>T ENST00000265310.1 - 12 1803 c.1455G>A c.(1453-1455)atG>atA p.M485I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 485 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CTCCAAAAATCATCTGCAGGA 0.483000 16 18 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52377937 52377937 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:52377937C>T ENST00000257963.4 + 5 1043 c.966C>T c.(964-966)atC>atT p.I322I ACVR1B_ENST00000541224.1_Silent_p.I363I|ACVR1B_ENST00000426655.2_Silent_p.I322I|ACVR1B_ENST00000542485.1_Silent_p.I270I|ACVR1B_ENST00000415850.2_Silent_p.I322I|ACVR1B_ENST00000563121.1_3'UTR NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 322 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) ACATGGAGATCGTGGGCACCC 0.522000 13 23 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124390568 124390568 + Silent SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:124390568A>G ENST00000360013.3 + 48 6889 c.6762A>G c.(6760-6762)caA>caG p.Q2254Q KALRN_ENST00000459915.1_Silent_p.Q346Q|KALRN_ENST00000428018.2_Silent_p.Q525Q|KALRN_ENST00000393496.1_Silent_p.Q595Q|KALRN_ENST00000291478.4_Silent_p.Q557Q NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2253 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 TGAGGTCTCAACCTGCCAGGC 0.567000 35 76 0 0 1 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52034998 52034998 + RNA SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:52034998C>T ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000593429.1_RNA TGCTGTACATCATATTACACC 0.438000 5 10 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234405412 234405412 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:234405412G>A ENST00000251722.6 - 24 2896 c.2779C>T c.(2779-2781)Cct>Tct p.P927S USP40_ENST00000427112.2_Missense_Mutation_p.P927S|USP40_ENST00000409945.1_Missense_Mutation_p.P103S|USP40_ENST00000450966.1_Missense_Mutation_p.P939S Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 927 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) ACCAGAGGAGGAAGTTGTCCT 0.348000 13 12 0 0 1 0 0 FBRS 64319 broad.mit.edu 37 16 30680646 30680646 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:30680646C>T ENST00000356166.6 + 18 3711 c.2623C>T c.(2623-2625)Cgc>Tgc p.R875C FBRS_ENST00000395073.2_Missense_Mutation_p.R267C|FBRS_ENST00000568722.1_Missense_Mutation_p.R267C|FBRS_ENST00000287468.5_Missense_Mutation_p.R355C Q9HAH7 FBRS_HUMAN fibrosin 355 ovary(1) 1 Colorectal(24;0.103) CCCACCAGATCGCTGTGCTGG 0.706000 10 17 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183273410 183273410 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:183273410G>A ENST00000341319.3 - 1 67 c.32C>T c.(31-33)aCc>aTc p.T11I NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 11 T -> R (in Ref. 5; AAL35594). breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ATCACCCATGGTCCAGGCGCC 0.572000 52 65 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126086345 126086345 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:126086345C>T ENST00000339582.2 - 10 3320 c.2512G>A c.(2512-2514)Gtt>Att p.V838I GRM8_ENST00000358373.3_Missense_Mutation_p.V838I|GRM8_ENST00000444921.2_Missense_Mutation_p.V838I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 838 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATAATATAAACCTTGGGCATA 0.408000 HNSCC(24;0.065) 23 61 0 0 1 0 0 FOXN2 3344 broad.mit.edu 37 2 48573659 48573659 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:48573659G>A ENST00000340553.3 + 3 567 c.306G>A c.(304-306)caG>caA p.Q102Q NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 102 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) CTTGCTACCAGAACCCAGAAA 0.433000 27 43 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122625513 122625513 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:122625513A>G ENST00000319080.6 + 16 2653 c.2521A>G c.(2521-2523)Atc>Gtc p.I841V MLXIP_ENST00000538698.1_Missense_Mutation_p.I448V Q9HAP2 MLXIP_HUMAN MLX interacting protein 841 Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CAGCATCATCATCAAGCCGCT 0.597000 33 62 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100387179 100387179 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:100387179G>A ENST00000262233.6 + 17 2013 c.1874G>A c.(1873-1875)gGa>gAa p.G625E EML1_ENST00000334192.4_Missense_Mutation_p.G644E|EML1_ENST00000327921.9_Missense_Mutation_p.G613E NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 625 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CACACAGATGGAAACGAACAG 0.358000 18 46 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144832199 144832199 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:144832199C>T ENST00000367545.3 + 34 4884 c.4884C>T c.(4882-4884)gtC>gtT p.V1628V NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1628 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGCTCTGCGTCCTTAACGCTG 0.443000 58 29 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77649243 77649243 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:77649243C>T ENST00000354212.4 - 22 4010 c.3757G>A c.(3757-3759)Gaa>Aaa p.E1253K MAGI2_ENST00000522391.1_Silent_p.R1282R|MAGI2_ENST00000419488.1_Missense_Mutation_p.E1239K NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1253 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACGCCTACTTCCGGCAGACCT 0.672000 12 24 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97251253 97251253 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:97251253A>G ENST00000389672.5 + 11 2290 c.2252A>G c.(2251-2253)gAg>gGg p.E751G EPHA6_ENST00000442602.2_Missense_Mutation_p.E117G|EPHA6_ENST00000502694.1_Missense_Mutation_p.E143G|EPHA6_ENST00000514100.1_Missense_Mutation_p.E143G NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 656 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGGAAAAGAGAGATCCCAGTT 0.403000 13 33 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108589759 108589759 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:108589759G>A ENST00000332082.4 + 3 968 c.150G>A c.(148-150)gcG>gcA p.A50A WSCD2_ENST00000261400.3_Silent_p.A50A|WSCD2_ENST00000549903.1_Silent_p.A50A|WSCD2_ENST00000547525.1_Silent_p.A50A Q2TBF2 WSCD2_HUMAN WSC domain containing 2 50 integral to membrane p.A50A(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GGAACCAGGCGAACCCCGCTG 0.607000 54 118 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135522331 135522331 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:135522331G>A ENST00000372159.3 - 12 1548 c.1397C>T c.(1396-1398)cCa>cTa p.P466L DDX31_ENST00000310532.2_Missense_Mutation_p.P466L|DDX31_ENST00000372153.1_Missense_Mutation_p.P466L|DDX31_ENST00000438527.3_Missense_Mutation_p.P337L NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 466 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GCCAGCTGGTGGAGGACAGAC 0.532000 23 18 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33110330 33110330 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:33110330G>A ENST00000307363.5 - 3 522 c.378C>T c.(376-378)atC>atT p.I126I GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Silent_p.I174I|GLB1_ENST00000399402.3_Silent_p.I96I NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 126 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) ACTCTGCACAGATGTAGGGCC 0.547000 23 49 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144802961 144802961 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:144802961G>A ENST00000338033.4 + 9 987 c.868G>A c.(868-870)Gac>Aac p.D290N NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 290 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GTTCGCCCCGGACAAGCGGTT 0.682000 12 49 0 0 1 0 0 MESDC1 59274 broad.mit.edu 37 15 81295208 81295208 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:81295208C>T ENST00000267984.2 + 1 1914 c.596C>T c.(595-597)gCc>gTc p.A199V NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 199 endometrium(1)|lung(2) 3 GACGCGTGCGCCCTGGCCAGT 0.687000 9 14 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17212838 17212838 + Missense_Mutation SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:17212838G>T ENST00000595618.1 + 2 463 c.311G>T c.(310-312)gGc>gTc p.G104V MYO9B_ENST00000397274.2_Missense_Mutation_p.G104V|MYO9B_ENST00000594824.1_Missense_Mutation_p.G104V NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 104 Myosin head-like.|Ras-associating. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CAGGAGGATGGCTACTACTTC 0.652000 23 32 6.21321e-17 6.37904e-17 1 1 0 KIF1B 23095 broad.mit.edu 37 1 10434438 10434438 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:10434438C>T ENST00000377086.1 + 46 5213 c.5011C>T c.(5011-5013)Cca>Tca p.P1671S KIF1B_ENST00000263934.6_Missense_Mutation_p.P1625S|KIF1B_ENST00000377081.1_Missense_Mutation_p.P1671S O60333 KIF1B_HUMAN kinesin family member 1B 1671 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TCAGATTGTCCCAGCTGTGGA 0.418000 53 102 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303869 151303869 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:151303869G>A ENST00000370323.4 - 4 540 c.224C>T c.(223-225)tCt>tTt p.S75F MAGEA10_ENST00000244096.3_Missense_Mutation_p.S75F|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 75 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATCATCAGCAGAAACCTCCTC 0.537000 59 18 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208224727 208224727 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:208224727G>A ENST00000367033.3 - 16 3792 c.3035C>T c.(3034-3036)tCc>tTc p.S1012F NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1012 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) AAGGCCATTGGATGATGGGGG 0.567000 16 25 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67269389 67269389 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:67269389A>G ENST00000356404.3 - 5 809 c.584T>C c.(583-585)gTt>gCt p.V195A PITPNM1_ENST00000436757.2_Missense_Mutation_p.V195A|PITPNM1_ENST00000534749.1_Missense_Mutation_p.V195A NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 195 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GCGGAACTCAACCTTGCACAG 0.602000 27 39 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235575 3235575 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:3235575G>A ENST00000217939.6 - 6 6301 c.6147C>T c.(6145-6147)atC>atT p.I2049I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2049 Ig-like C2-type 5. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCTCCTGGTGGATAACGGGGG 0.662000 11 5 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155209525 155209525 + Missense_Mutation SNP C C G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:155209525C>G ENST00000428024.2 - 3 577 c.75G>C c.(73-75)caG>caC p.Q25H GBA_ENST00000427500.2_Intron|GBA_ENST00000368373.3_Missense_Mutation_p.Q112H|GBA_ENST00000327247.5_Missense_Mutation_p.Q112H|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000536770.1_Intron NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 112 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) TCTGGAACTTCTGTTCTGGCT 0.512000 Gaucher disease type I 23 52 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33461376 33461376 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:33461376C>T ENST00000265112.3 + 13 1838 c.1527C>T c.(1525-1527)atC>atT p.I509I TARS_ENST00000541634.1_Silent_p.I405I|TARS_ENST00000455217.2_Silent_p.I542I|TARS_ENST00000414361.2_Silent_p.I388I|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Silent_p.I509I NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 509 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TTGGAGATATCGAAGTATGGG 0.373000 14 27 0 0 1 0 0 CIDECP 152302 broad.mit.edu 37 3 10059658 10059658 + RNA SNP G G T rs9862221 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:10059658G>T ENST00000432401.1 - 0 505 GGGGATGCCCGTCCTCTGTGG 0.597000 7 98 2.17888e-05 2.19792e-05 1 1 0 ERBB4 2066 broad.mit.edu 37 2 212285294 212285294 + Missense_Mutation SNP A A T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:212285294A>T ENST00000342788.4 - 25 3317 c.3007T>A c.(3007-3009)Ttc>Atc p.F1003I ERBB4_ENST00000436443.1_Missense_Mutation_p.F1003I|ERBB4_ENST00000402597.1_Missense_Mutation_p.F993I NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1003 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTCTGAAAGAACTTGCTGTCA 0.408000 TSP Lung(8;0.080) 7 28 0 0 1 0 0 ESAM 90952 broad.mit.edu 37 11 124623839 124623839 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:124623839G>A ENST00000278927.5 - 7 1005 c.876C>T c.(874-876)ccC>ccT p.P292P ESAM_ENST00000442070.2_Intron NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 292 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) GCAGGGTCCGGGGAGCAATGG 0.567000 10 15 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56106231 56106231 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:56106231C>T ENST00000373965.2 - 6 882 c.488G>A c.(487-489)gGt>gAt p.G163D PCDH15_ENST00000414778.1_Missense_Mutation_p.G168D|PCDH15_ENST00000395433.1_Missense_Mutation_p.G141D|PCDH15_ENST00000395440.1_Missense_Mutation_p.G163D|PCDH15_ENST00000437009.1_Missense_Mutation_p.G163D|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G163D|PCDH15_ENST00000395446.1_Missense_Mutation_p.G163D|PCDH15_ENST00000361849.3_Missense_Mutation_p.G163D|PCDH15_ENST00000395432.2_Missense_Mutation_p.G163D|PCDH15_ENST00000395442.1_Missense_Mutation_p.G163D|PCDH15_ENST00000395445.1_Missense_Mutation_p.G163D|PCDH15_ENST00000373957.3_Missense_Mutation_p.G141D|PCDH15_ENST00000395438.1_Missense_Mutation_p.G163D|PCDH15_ENST00000395430.1_Missense_Mutation_p.G163D|PCDH15_ENST00000373955.1_Missense_Mutation_p.G163D NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 163 Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TATTGTGGTACCAACTGGAGT 0.333000 HNSCC(58;0.16) 29 13 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729162 66729162 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:66729162C>T ENST00000307102.5 + 3 901 c.370C>T c.(370-372)Ccg>Tcg p.P124S NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P124S(8) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GTGCAACTCTCCGTACATCGT 0.507000 13 67 0 0 1 0 0 BTC 685 broad.mit.edu 37 4 75673342 75673342 + Missense_Mutation SNP C C T rs140634211 byFrequency TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:75673342C>T ENST00000395743.3 - 5 806 c.446G>A c.(445-447)cGt>cAt p.R149H NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 149 Arg/Lys-rich (basic). positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) CTTTCTTTTACGACGTTTCCG 0.353000 6 19 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110710562 110710562 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:110710562C>T ENST00000282356.4 + 3 653 c.255C>T c.(253-255)atC>atT p.I85I CAMK4_ENST00000512453.1_Silent_p.I85I NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 85 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ACAAAAAAATCGTAAGAACTG 0.378000 12 14 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7912824 7912824 + Splice_Site SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:7912824G>A ENST00000254854.4 + 8 1819 c.1668_splice c.e8-1 p.G557_splice NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 557 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.G557R(1) skin(1) 1 Prostate(122;0.157) TTTGCTGCAGGGAGACAGGGT 0.557000 36 89 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169028625 169028625 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:169028625C>T ENST00000265295.4 + 11 1945 c.1666C>T c.(1666-1668)Ccc>Tcc p.P556S NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 CCCTAACTCTCCCAGGTCAGT 0.488000 7 12 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141607703 141607703 + Missense_Mutation SNP T T G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:141607703T>G ENST00000389484.3 - 29 5878 c.4907A>C c.(4906-4908)aAc>aCc p.N1636T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1636 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCCAGTTCCGTTAATAAAAGC 0.323000 TSP Lung(27;0.18) 6 26 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112767556 112767556 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:112767556C>T ENST00000295408.4 + 15 2249 c.1992C>T c.(1990-1992)atC>atT p.I664I MERTK_ENST00000421804.2_Silent_p.I664I|MERTK_ENST00000409780.1_Silent_p.I488I Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 664 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CTCAAGGCATCCCAAAGCCCA 0.428000 26 44 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95694307 95694307 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:95694307C>T ENST00000436874.1 + 12 2303 c.2198C>T c.(2197-2199)cCa>cTa p.P733L VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P685L NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 733 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CAGCTGTCACCAGATTTTACC 0.537000 19 32 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76501515 76501515 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:76501515G>A ENST00000389840.5 - 31 4928 c.4804C>T c.(4804-4806)Ctg>Ttg p.L1602L DNAH17_ENST00000585328.1_Silent_p.L1603L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGTTTGGACAGGTGGCGGCTC 0.552000 23 30 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887492 131887492 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:131887492G>A ENST00000359827.3 - 12 3461 c.2499C>T c.(2497-2499)acC>acT p.T833T PLXNA4_ENST00000321063.4_Silent_p.T833T Q9HCM2 PLXA4_HUMAN plexin A4 833 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTGGCGCAGGGTGCACTGGC 0.642000 17 44 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39537692 39537692 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:39537692G>A ENST00000265707.5 + 16 1813 c.1768G>A c.(1768-1770)Gat>Aat p.D590N ADAM18_ENST00000379866.1_Missense_Mutation_p.D566N|ADAM18_ENST00000541111.1_Missense_Mutation_p.D4N NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 590 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATGAGATCAGATGGAACAGA 0.358000 11 21 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142562484 142562484 + Missense_Mutation SNP G G A rs55728646 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:142562484G>A ENST00000392957.2 + 7 1713 c.926G>A c.(925-927)cGa>cAa p.R309Q EPHB6_ENST00000411471.2_Missense_Mutation_p.R32Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R309Q NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 309 Cys-rich. R -> Q. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAACCAGCACGAGGAGACAAG 0.657000 37 113 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738751 138738751 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:138738751C>T ENST00000329447.5 - 1 1017 c.753G>A c.(751-753)ccG>ccA p.P251P MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 251 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAGGGCGTTCCGGGAGCGGCG 0.667000 21 32 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7169913 7169913 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:7169913G>A ENST00000406697.1 + 6 768 c.140G>A c.(139-141)gGg>gAg p.G47E C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Missense_Mutation_p.G47E|C1S_ENST00000328916.3_Missense_Mutation_p.G47E P09871 C1S_HUMAN complement component 1, s subcomponent 47 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GTTCCTGAAGGGTATGGGATT 0.458000 27 52 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3181486 3181486 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:3181486G>A ENST00000408891.2 - 1 782 c.744C>T c.(742-744)tcC>tcT p.S248S NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 248 sensory perception of smell integral to plasma membrane olfactory receptor activity p.S248S(1) ovary(1) 1 AGCCACACGTGGAGAAGGCCT 0.522000 30 41 0 0 1 0 0 CIDECP 152302 broad.mit.edu 37 3 10059664 10059664 + RNA SNP T T C rs73017232 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:10059664T>C ENST00000432401.1 - 0 505 GCCCGTCCTCTGTGGCATCGA 0.607000 6 93 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7676858 7676858 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:7676858G>A ENST00000446248.2 + 13 1661 c.1560G>A c.(1558-1560)aaG>aaA p.K520K CAMSAP3_ENST00000160298.4_Silent_p.K493K NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 493 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GGCCCTCCAAGCCATCCCTGG 0.667000 22 43 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122931334 122931334 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:122931334C>T ENST00000534624.1 - 3 654 c.378G>A c.(376-378)aaG>aaA p.K126K HSPA8_ENST00000526110.1_Silent_p.K126K|HSPA8_ENST00000532636.1_Silent_p.K126K|HSPA8_ENST00000453788.2_Silent_p.K126K|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Silent_p.K126K NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 126 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTTCCTTCATCTTTGTCAGAA 0.498000 38 72 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917222 48917222 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:48917222C>T ENST00000311378.4 + 2 1101 c.573C>T c.(571-573)acC>acT p.T191T WFIKKN2_ENST00000426127.1_Silent_p.T98T NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 191 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CACCTGAGACCACCATGCACC 0.637000 26 46 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9570070 9570070 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:9570070C>T ENST00000460593.1 + 3 1160 c.22C>T c.(22-24)Cct>Tct p.P8S CPSF3_ENST00000238112.3_Missense_Mutation_p.P45S Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 45 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TGGGATCCACCCTGGCCTAGA 0.368000 29 47 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87053346 87053346 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:87053346G>A ENST00000265723.4 - 17 2198 c.2087C>T c.(2086-2088)tCc>tTc p.S696F ABCB4_ENST00000545634.1_Missense_Mutation_p.S696F|ABCB4_ENST00000358400.3_Missense_Mutation_p.S696F|ABCB4_ENST00000453593.1_Missense_Mutation_p.S696F|ABCB4_ENST00000359206.3_Missense_Mutation_p.S696F NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 696 cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CTTCAGAAAGGACACTGGTGG 0.463000 47 88 0 0 1 0 0 RIOK1 83732 broad.mit.edu 37 6 7396957 7396957 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:7396957C>T ENST00000379834.2 + 4 896 c.389C>T c.(388-390)tCc>tTc p.S130F NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 130 ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) GTTACTGATTCCGTCATAAAT 0.308000 12 32 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114372220 114372220 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:114372220C>T ENST00000359785.5 - 18 2379 c.2244G>A c.(2242-2244)agG>agA p.R748R PTPN22_ENST00000528414.1_Silent_p.R693R|PTPN22_ENST00000525799.1_Silent_p.R621R|PTPN22_ENST00000538253.1_Silent_p.R504R|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.R748R NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 748 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTACCTTACTCCTTGTGAAAC 0.378000 13 11 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61508748 61508748 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:61508748C>T ENST00000257215.5 + 19 2214 c.2098C>T c.(2098-2100)Ccc>Tcc p.P700S NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 700 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GCAGCCACTCCCCACGGGGCC 0.657000 19 48 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274630 29274630 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:29274630C>T ENST00000377160.2 + 1 228 c.164C>T c.(163-165)tCc>tTc p.S55F NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 CGTCTCCATTCCCCCATGTAT 0.473000 85 128 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64537396 64537396 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:64537396C>T ENST00000358025.3 + 52 10695 c.10465C>T c.(10465-10467)Cag>Tag p.Q3489* SYNE2_ENST00000555002.1_Nonsense_Mutation_p.Q123*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q3489*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q3522* NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3489 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) AGATAATCTTCAGGAAGAACT 0.358000 11 12 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79084869 79084869 + Missense_Mutation SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:79084869G>T ENST00000446378.2 + 10 11662 c.11631G>T c.(11629-11631)agG>agT p.R3877S CTC-431G16.2_ENST00000421252.2_RNA NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3877 Fibronectin type-III 2. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TCTATGTGAGGGCCATCAATG 0.403000 39 70 5.44703e-19 5.61238e-19 1 1 0 PBK 55872 broad.mit.edu 37 8 27667836 27667836 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:27667836C>T ENST00000301905.4 - 8 1418 c.955G>A c.(955-957)Gaa>Aaa p.E319K PBK_ENST00000522944.1_Missense_Mutation_p.E330K|ESCO2_ENST00000397418.2_Intron NM_018492.2 NP_060962.2 Q96KB5 TOPK_HUMAN PDZ binding kinase 319 Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) ACATCTGTTTCCAGAGCTTCA 0.373000 14 23 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42036493 42036493 + Missense_Mutation SNP T T A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:42036493T>A ENST00000220809.4 - 13 1708 c.1452A>T c.(1450-1452)agA>agT p.R484S PLAT_ENST00000524009.1_Missense_Mutation_p.R395S|PLAT_ENST00000519510.1_Missense_Mutation_p.R421S|PLAT_ENST00000352041.3_Missense_Mutation_p.R438S|PLAT_ENST00000429710.2_Missense_Mutation_p.R358S|PLAT_ENST00000270189.6_3'UTR|PLAT_ENST00000429089.2_Missense_Mutation_p.R484S NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 484 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CGGTGACTGTTCTGTTAAGTA 0.577000 55 80 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248845138 248845138 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:248845138G>A ENST00000342623.3 - 1 491 c.468C>T c.(466-468)gtC>gtT p.V156V NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TGCCAGTGTGGACGGCTGCGT 0.552000 12 37 0 0 1 0 0 TRIM61 391712 broad.mit.edu 37 4 165890966 165890966 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:165890966C>T ENST00000329314.5 - 3 801 c.189G>A c.(187-189)agG>agA p.R63R NM_001012414.2 NP_001012414.1 Q5EBN2 TRI61_HUMAN tripartite motif containing 61 63 intracellular zinc ion binding NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) TTATAAATTTCCTTTCTGGAC 0.453000 13 73 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108211420 108211420 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:108211420C>T ENST00000273353.3 - 10 914 c.858G>A c.(856-858)gtG>gtA p.V286V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 286 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 GCTGGAAAATCACCCTGGACT 0.393000 7 12 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189849965 189849965 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:189849965G>A ENST00000304636.3 + 3 495 c.325G>A c.(325-327)Gga>Aga p.G109R COL3A1_ENST00000317840.5_Missense_Mutation_p.G109R NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 109 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGGCCCCAAGGGAGATCCAGT 0.333000 17 43 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36766675 36766675 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:36766675C>T ENST00000361475.2 - 10 1628 c.1455G>A c.(1453-1455)atG>atA p.M485I TGM2_ENST00000536701.1_Missense_Mutation_p.M404I|TGM2_ENST00000536724.1_Missense_Mutation_p.M425I NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 485 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) AGTCACTGCCCATGTTCATGC 0.592000 14 26 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382680 22382680 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:22382680G>A ENST00000328795.4 + 1 299 c.208G>A c.(208-210)Gat>Aat p.D70N RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCCTTCCTGGATGCATCCTA 0.473000 13 38 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110986246 110986246 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:110986246G>A ENST00000524391.1 - 2 1404 c.372C>T c.(370-372)gtC>gtT p.V124V KCNV1_ENST00000297404.1_Silent_p.V124V|RP11-696P8.2_ENST00000530667.1_RNA Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 124 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) GCTGCTCCATGACATGCAGGC 0.617000 28 22 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112672931 112672931 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:112672931G>A ENST00000550722.1 - 37 5822 c.5427C>T c.(5425-5427)atC>atT p.I1809I HECTD4_ENST00000377560.5_Silent_p.I1783I|HECTD4_ENST00000430131.2_Silent_p.I1533I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CCCGCTTGTGGATAAATATCG 0.468000 3 10 0 0 1 0 0 CTSB 1508 broad.mit.edu 37 8 11704593 11704593 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:11704593G>A ENST00000353047.6 - 8 1014 c.761C>T c.(760-762)tCt>tTt p.S254F CTSB_ENST00000345125.3_Missense_Mutation_p.S254F|CTSB_ENST00000533455.1_Missense_Mutation_p.S254F|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.S254F|CTSB_ENST00000534510.1_Missense_Mutation_p.S254F|CTSB_ENST00000434271.1_Missense_Mutation_p.S254F|CTSB_ENST00000453527.2_Missense_Mutation_p.S254F|CTSB_ENST00000530640.2_Missense_Mutation_p.S254F NM_001908.3 NP_001899.1 P07858 CATB_HUMAN cathepsin B 254 proteolysis|regulation of apoptosis|regulation of catalytic activity lysosome|melanosome cysteine-type endopeptidase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1) 16 all_epithelial(15;0.205) STAD - Stomach adenocarcinoma(15;0.00546) COAD - Colon adenocarcinoma(149;0.184) CGAATACACAGAGAAAGCTCC 0.547000 20 35 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58108948 58108948 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:58108948C>T ENST00000357272.4 + 21 3420 c.3255C>T c.(3253-3255)atC>atT p.I1085I FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000295956.4_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000493452.1_Silent_p.I916I O75369 FLNB_HUMAN filamin B, beta 1085 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGGCCAAAATCGAGTGCTCCG 0.552000 48 96 0 0 1 0 0 ART5 116969 broad.mit.edu 37 11 3661351 3661351 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:3661351G>A ENST00000397068.3 - 2 700 c.308C>T c.(307-309)tCg>tTg p.S103L ART5_ENST00000397067.3_Missense_Mutation_p.S103L|ART5_ENST00000359918.4_Missense_Mutation_p.S103L NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 103 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) CAAGGTGTTCGATGAGTTGGT 0.577000 50 105 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113801724 113801724 + Missense_Mutation SNP T T A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:113801724T>A ENST00000375559.3 + 7 817 c.779T>A c.(778-780)tTc>tAc p.F260Y F10_ENST00000409306.1_Missense_Mutation_p.F260Y|F10_ENST00000375551.3_Missense_Mutation_p.F260Y NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 260 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) AACGAGGGTTTCTGTGGTGGA 0.542000 26 35 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39341263 39341263 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:39341263C>T ENST00000263408.4 - 4 556 c.461G>A c.(460-462)cGa>cAa p.R154Q C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 154 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GCCTGCTGTTCGTGCCAGCTC 0.458000 40 53 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36230271 36230271 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:36230271G>A ENST00000303965.4 - 2 1327 c.838C>T c.(838-840)Cga>Tga p.R280* NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 280 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 AGAAAAGATCGAGATGGTCTT 0.393000 25 46 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176517411 176517411 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:176517411C>T ENST00000292408.4 + 3 357 c.112C>T c.(112-114)Ctg>Ttg p.L38L FGFR4_ENST00000502906.1_Silent_p.L38L|FGFR4_ENST00000393648.2_Silent_p.L38L|FGFR4_ENST00000393637.1_Silent_p.L38L|FGFR4_ENST00000292410.3_Silent_p.L38L|FGFR4_ENST00000507708.1_3'UTR NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 38 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GGCTCCCAGCCTGGAGCAGCA 0.652000 TSP Lung(9;0.080) 22 40 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243551 47243551 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:47243551C>T ENST00000300404.2 + 9 1269 c.1210C>T c.(1210-1212)Ctc>Ttc p.L404F B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L344F|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L318F NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 404 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CGATGATTTTCTCTTCAACGA 0.488000 28 46 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19474601 19474601 + Splice_Site SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:19474601G>A ENST00000396229.2 + 7 1897 c.e7-1 TMC5_ENST00000564959.1_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000219821.5_Splice_Site NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTTCCCTACAGGAAAATAGTT 0.398000 18 43 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55211758 55211758 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:55211758C>T ENST00000201031.2 + 6 1258 c.1015C>T c.(1015-1017)Ctt>Ttt p.L339F TFAP2C_ENST00000544508.1_Missense_Mutation_p.L170F NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 339 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CAGACCTCATCTTGGAGGACG 0.433000 19 41 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539610 56539610 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:56539610C>T ENST00000390649.3 + 7 2011 c.2011C>T c.(2011-2013)Ctg>Ttg p.L671L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 671 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTGGGTCTCTCTGTTGGGTCA 0.577000 39 71 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102124506 102124506 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:102124506C>T ENST00000369138.1 + 4 1040 c.550C>T c.(550-552)Cgt>Tgt p.R184C GRIK2_ENST00000318991.6_Missense_Mutation_p.R184C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R184C|GRIK2_ENST00000358361.3_Missense_Mutation_p.R184C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R135C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R184C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R184C NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 184 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGGTCTCATTCGTTTGCAAGA 0.313000 4 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179440845 179440845 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:179440845C>T ENST00000589042.1 - 326 70238 c.70014G>A c.(70012-70014)cgG>cgA p.R23338R TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.R21697R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R20770R|TTN_ENST00000359218.5_Silent_p.R14398R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.R14465R|TTN_ENST00000460472.2_Silent_p.R14273R|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21697 Fibronectin type-III 69. 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) GAGCCATCTCCCGTTCTACGA 0.438000 49 49 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128712114 128712114 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:128712114G>A ENST00000265068.5 - 2 201 c.34C>T c.(34-36)Ccc>Tcc p.P12S KIAA1257_ENST00000511438.1_Missense_Mutation_p.P12S|KIAA1257_ENST00000510149.1_Intron NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 12 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 ATGCTTGCGGGGTCCTCTTCC 0.627000 13 20 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131246 130131246 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:130131246G>A ENST00000525842.1 - 2 890 c.523C>T c.(523-525)Cct>Tct p.P175S ZBTB44_ENST00000397753.1_Missense_Mutation_p.P175S|ZBTB44_ENST00000530205.1_Missense_Mutation_p.P175S|ZBTB44_ENST00000357899.4_Missense_Mutation_p.P175S NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) CGGCAGACAGGAATGGTTCTT 0.453000 8 40 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27068436 27068436 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:27068436G>A ENST00000268766.6 + 14 1931 c.1897G>A c.(1897-1899)Gaa>Aaa p.E633K AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 633 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) GGCAGAGAGCGAAGTGTACTC 0.622000 17 23 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15483068 15483068 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:15483068G>A ENST00000269701.2 - 6 1012 c.952C>T c.(952-954)Ctg>Ttg p.L318L NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 318 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 ACCCGGGCCAGTTTGGTGTCT 0.582000 30 42 0 0 1 0 0 GYPB 2994 broad.mit.edu 37 4 144920579 144920579 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:144920579G>A ENST00000283126.7 - 3 215 c.160C>T c.(160-162)Cgt>Tgt p.R54C GYPB_ENST00000502664.1_Missense_Mutation_p.R54C|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Missense_Mutation_p.R21C|GYPB_ENST00000429670.2_Missense_Mutation_p.R54C|GYPB_ENST00000510196.2_5'UTR glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) ACAGTGAAACGATGGACAAGT 0.313000 3 6 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4242610 4242610 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:4242610G>A ENST00000399609.3 - 6 978 c.966C>T c.(964-966)atC>atT p.I322I SRL_ENST00000537996.1_Silent_p.I280I NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 781 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GTCTGTTCTCGATCACCTGAT 0.552000 54 118 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890037 55890037 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:55890037C>T ENST00000313472.3 + 1 189 c.189C>T c.(187-189)ttC>ttT p.F63F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGTATTTTTTCCTTACTCACC 0.428000 63 133 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48343042 48343042 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:48343042C>T ENST00000221996.7 + 4 924 c.718C>T c.(718-720)Ccc>Tcc p.P240S CRX_ENST00000539067.1_Missense_Mutation_p.P240S|TPRX2P_ENST00000535362.1_Intron NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 240 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CCTCTCTGGCCCCTCCGTGGG 0.647000 102 136 0 0 1 0 0 AKR1C1 1645 broad.mit.edu 37 10 5009132 5009132 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:5009132C>T ENST00000380872.4 + 3 458 c.266C>T c.(265-267)tCc>tTc p.S89F AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.S89F|AKR1C1_ENST00000380859.1_Missense_Mutation_p.S91F NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 TGGTGCAATTCCCATCGACCA 0.393000 13 12 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435045 10435045 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:10435045C>T ENST00000245503.5 - 22 2986 c.2602G>A c.(2602-2604)Gaa>Aaa p.E868K CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E868K|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 868 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E868K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTGGCAAGTTCGTCTTTAATT 0.428000 23 53 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57157079 57157079 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:57157079C>T ENST00000371244.4 + 3 315 c.249C>T c.(247-249)atC>atT p.I83I NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 83 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ACCAGGTGATCAGCACTCCAA 0.313000 11 8 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656116 167656116 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:167656116C>T ENST00000357154.3 - 12 1404 c.1267G>A c.(1267-1269)Ggg>Agg p.G423R SPOCK3_ENST00000504953.1_Missense_Mutation_p.G420R|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G372R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G420R|SPOCK3_ENST00000512681.1_Missense_Mutation_p.G325R|SPOCK3_ENST00000535728.1_Missense_Mutation_p.G291R|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G423R|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G303R|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G423R|SPOCK3_ENST00000541637.1_Missense_Mutation_p.G325R|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G423R|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G327R|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G380R|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G420R NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 423 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) tcatcatccccttcatcttca 0.323000 5 14 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90059162 90059162 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:90059162C>T ENST00000405460.2 + 59 12257 c.12161C>T c.(12160-12162)tCa>tTa p.S4054L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4054 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GACCCTGATTCATATGTGACA 0.413000 9 19 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444324 20444324 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:20444324C>T ENST00000305051.5 + 1 722 c.647C>T c.(646-648)aCt>aTt p.T216I NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TGCATAGACACTTATGTTGTC 0.403000 48 99 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565659 11565659 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:11565659G>A ENST00000359227.3 - 7 1210 c.786C>T c.(784-786)atC>atT p.I262I ELAVL3_ENST00000438662.2_Silent_p.I255I NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 262 cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CATCGATGGCGATCGGCGAGA 0.687000 129 218 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591461 14591461 + Nonsense_Mutation SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:14591461C>A ENST00000393033.4 - 5 687 c.418G>T c.(418-420)Gag>Tag p.E140* GIPC1_ENST00000393029.3_Nonsense_Mutation_p.E43*|GIPC1_ENST00000393028.1_Nonsense_Mutation_p.E43*|GIPC1_ENST00000591349.1_Nonsense_Mutation_p.E43*|GIPC1_ENST00000586027.1_Nonsense_Mutation_p.E140*|GIPC1_ENST00000345425.2_Nonsense_Mutation_p.E140* NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 140 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 AGTGCATCCTCCGACTTGAAC 0.647000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 64 6.27289e-28 6.48648e-28 1 1 0 OTOGL 283310 broad.mit.edu 37 12 80672875 80672875 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:80672875G>A ENST00000458043.2 + 25 2836 c.2830G>A c.(2830-2832)Gac>Aac p.D944N OTOGL_ENST00000547103.1_Missense_Mutation_p.D944N NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 AATATACGGGGACCGACATTA 0.353000 34 62 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102446168 102446168 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:102446168C>T ENST00000360184.4 + 4 795 c.631C>T c.(631-633)Cca>Tca p.P211S NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 211 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCCGATTCATCCAATGATCAC 0.403000 36 66 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122001062 122001062 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:122001062G>A ENST00000498619.1 + 6 2179 c.1741G>A c.(1741-1743)Ggg>Agg p.G581R CASR_ENST00000296154.5_Missense_Mutation_p.G571R|CASR_ENST00000490131.1_Missense_Mutation_p.G571R NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 571 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GTGTCCTGATGGGGAGTATAG 0.602000 38 58 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13379373 13379373 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:13379373G>A ENST00000254508.5 - 26 3598 c.3516C>T c.(3514-3516)atC>atT p.I1172I NUP210_ENST00000485755.1_Intron NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1172 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TGGGGGCGCGGATCCTCACGG 0.642000 14 20 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108315580 108315580 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:108315580C>T ENST00000520734.1 - 4 509 c.224G>A c.(223-225)gGa>gAa p.G75E ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G74E Q15389 ANGP1_HUMAN angiopoietin 1 275 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding p.G275E(1) NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CTCTCTTTTTCCTCCCTTTAG 0.313000 9 35 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2168072 2168072 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:2168072G>A ENST00000262304.4 - 5 1129 c.921C>T c.(919-921)ttC>ttT p.F307F PKD1_ENST00000423118.1_Silent_p.F307F NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 307 PKD 1. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGCCGTCTCCGAAGTCCCAGC 0.716000 14 16 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345093 20345093 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:20345093G>A ENST00000298642.2 + 1 703 c.667G>A c.(667-669)Gtt>Att p.V223I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATTGTCCTGGTTACTGTGAA 0.378000 25 120 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121471556 121471556 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:121471556C>T ENST00000305949.1 + 8 894 c.849C>T c.(847-849)atC>atT p.I283I NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 283 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) CCAAAAAGATCATACCATCAA 0.274000 4 16 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54301522 54301522 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:54301522G>A ENST00000324134.6 - 8 3070 c.2902C>T c.(2902-2904)Ccc>Tcc p.P968S NLRP12_ENST00000391775.3_Intron|NLRP12_ENST00000535162.1_Missense_Mutation_p.P968S|NLRP12_ENST00000391773.1_Missense_Mutation_p.P969S|NLRP12_ENST00000345770.5_Missense_Mutation_p.P969S|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 968 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTGCAGGCGGGATGTTGCAGC 0.592000 33 49 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984492 110984492 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:110984492G>A ENST00000524391.1 - 3 2018 c.986C>T c.(985-987)tCc>tTc p.S329F KCNV1_ENST00000297404.1_Missense_Mutation_p.S329F Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 329 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) AATACCTGTGGAATGTCTGCC 0.493000 33 33 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45363782 45363782 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:45363782C>T ENST00000559488.1 + 5 787 c.771C>T c.(769-771)gtC>gtT p.V257V ITGB3_ENST00000435993.2_Silent_p.V210V|ITGB3_ENST00000571680.1_Silent_p.V257V|ITGB3_ENST00000560629.1_Silent_p.L246L NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 257 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.V210V(1)|p.V257V(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) AGGCTACAGTCTGTGATGTGA 0.512000 29 35 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56435093 56435093 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:56435093G>A ENST00000584437.1 - 8 3999 c.2044C>T c.(2044-2046)Ccc>Tcc p.P682S BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.P555S|RNF43_ENST00000407977.2_Missense_Mutation_p.P682S|RNF43_ENST00000581868.1_Missense_Mutation_p.P555S|RNF43_ENST00000577716.1_Missense_Mutation_p.P682S|RNF43_ENST00000500597.2_Missense_Mutation_p.P641S|RNF43_ENST00000583753.1_Missense_Mutation_p.P641S Q68DV7 RNF43_HUMAN ring finger protein 43 682 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTGTAATGGGGAAAAATCTGG 0.627000 62 113 0 0 1 0 0 FBXL12 54850 broad.mit.edu 37 19 9921757 9921757 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:9921757G>A ENST00000247977.4 - 3 1037 c.796C>T c.(796-798)Cca>Tca p.P266S FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.P213S|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.P213S NM_017703.1 NP_060173.1 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 266 protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 GGCATTTCTGGGGTGACGAGG 0.662000 19 17 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115523998 115523998 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:115523998G>A ENST00000369522.3 + 29 2664 c.2424G>A c.(2422-2424)tgG>tgA p.W808* SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Nonsense_Mutation_p.W808* NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 808 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATTTATTGGAAATTGGATT 0.303000 16 39 0 0 1 0 0 MGAT2 4247 broad.mit.edu 37 14 50088518 50088518 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:50088518C>T ENST00000305386.2 + 1 1030 c.532C>T c.(532-534)Cct>Tct p.P178S RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 178 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) GGTGTTCTTTCCTTTCAGCAT 0.502000 40 70 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678886 130678886 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:130678886T>C ENST00000338616.3 + 1 937 c.839T>C c.(838-840)tTg>tCg p.L280S NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) TATGGAGCTTTGACACCCATG 0.413000 38 15 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160769865 160769865 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:160769865C>T ENST00000263285.5 + 2 477 c.447C>T c.(445-447)ttC>ttT p.F149F LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Silent_p.F149F|LY9_ENST00000341032.4_Silent_p.F149F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.F109F NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 149 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCACCCTGTTCGTCTATGGTG 0.373000 19 40 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54142271 54142271 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:54142271G>A ENST00000265572.3 - 4 1026 c.729C>T c.(727-729)atC>atT p.I243I OPRK1_ENST00000520287.1_Silent_p.I243I|OPRK1_ENST00000524278.1_Silent_p.I154I|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 243 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGTAGCAGACGATGATGATGA 0.542000 26 68 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32024647 32024647 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:32024647G>A ENST00000375244.3 - 23 8060 c.7859C>T c.(7858-7860)aCc>aTc p.T2620I TNXB_ENST00000375247.2_Missense_Mutation_p.T2620I P22105 TENX_HUMAN tenascin XB 2680 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGGGTCATGGTAGGCACTGC 0.617000 46 108 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370203 35370203 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:35370203C>T ENST00000373347.1 - 3 1050 c.782G>A c.(781-783)tGg>tAg p.W261* DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.W261* O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 261 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) ATCGGAACTCCACCAGCCTGT 0.657000 54 97 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54147522 54147522 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:54147522G>A ENST00000265572.3 - 3 704 c.407C>T c.(406-408)tCc>tTc p.S136F OPRK1_ENST00000520287.1_Missense_Mutation_p.S136F|OPRK1_ENST00000524278.1_Missense_Mutation_p.S47F|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 136 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GTAATCAATGGAAATTACTAT 0.473000 47 30 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56484762 56484762 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:56484762T>C ENST00000370765.6 - 23 4177 c.4070A>G c.(4069-4071)gAc>gGc p.D1357G DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 5005 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) TTTCTGCTTGTCATGTTCTTG 0.433000 94 77 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111772438 111772438 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:111772438C>T ENST00000261726.6 + 19 3274 c.3120C>T c.(3118-3120)atC>atT p.I1040I NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1040 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TCCAGGAGATCGTGGCCATGT 0.617000 29 34 0 0 1 0 0 LY6D 8581 broad.mit.edu 37 8 143866658 143866658 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:143866658G>A ENST00000301263.4 - 3 441 c.366C>T c.(364-366)gtC>gtT p.V122V LY6D_ENST00000518434.1_5'UTR NM_003695.2 NP_003686.1 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D 122 cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding large_intestine(1)|lung(3)|prostate(1) 5 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GGGCTAAGATGACGGCCAGGA 0.652000 17 23 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48628487 48628487 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:48628487C>T ENST00000006658.6 + 12 1632 c.1512C>T c.(1510-1512)ctC>ctT p.L504L SPATA20_ENST00000393244.3_Silent_p.L444L|SPATA20_ENST00000356488.4_Silent_p.L488L|SPATA20_ENST00000511937.1_3'UTR NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 488 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TGGAGAAGCTCTTCCAGGCCC 0.627000 OREG0024568 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 18 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515812 149515812 + RNA SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:149515812C>T ENST00000378016.2 + 0 11713 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTGCATGGCGCAGCCGCAC 0.687000 6 35 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45644575 45644575 + Missense_Mutation SNP G G C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:45644575G>C ENST00000267430.5 + 14 2703 c.2618G>C c.(2617-2619)gGt>gCt p.G873A FANCM_ENST00000542564.2_Missense_Mutation_p.G847A NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 873 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AATAATCACGGTATTATAGAT 0.259000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 8 18 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57171779 57171779 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:57171779C>T ENST00000371244.4 + 8 1374 c.1308C>T c.(1306-1308)taC>taT p.Y436Y NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 436 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TGAATGCATACCATCTTCGTG 0.303000 5 15 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167149800 167149800 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:167149800C>T ENST00000303354.6 - 9 1391 c.1051G>A c.(1051-1053)Gcc>Acc p.A351T SCN9A_ENST00000375387.4_Missense_Mutation_p.A351T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.A350T|SCN9A_ENST00000409435.1_Missense_Mutation_p.A350T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 350 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTAAGAAGGCCCAGCTGAAA 0.443000 7 7 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142200425 142200425 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:142200425G>A ENST00000519811.1 + 20 3358 c.3288G>A c.(3286-3288)tgG>tgA p.W1096* DENND3_ENST00000523308.1_Nonsense_Mutation_p.W66*|DENND3_ENST00000424248.1_Nonsense_Mutation_p.W964*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.W1016* A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1016 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TGCTGGTGTGGAATGTGAGCA 0.602000 57 52 0 0 1 0 0 LPAR2 9170 broad.mit.edu 37 19 19738055 19738055 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:19738055G>A ENST00000542587.1 - 5 941 c.39C>T c.(37-39)atC>atT p.I13I LPAR2_ENST00000586703.1_Silent_p.I13I|LPAR2_ENST00000407877.3_Silent_p.I13I Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 13 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 10 AGAAGAAGCCGATGGTCTCGT 0.587000 25 40 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6244953 6244953 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:6244953G>A ENST00000265978.4 - 3 1022 c.664C>T c.(664-666)Cga>Tga p.R222* FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.R222*|FAM160A2_ENST00000449352.2_Nonsense_Mutation_p.R222* NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 222 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTGCCCTCTCGATGCACAAAA 0.607000 83 139 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895325 42895325 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:42895325G>A ENST00000399770.2 + 1 42 c.42G>A c.(40-42)cgG>cgA p.R14R NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 14 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 ACAGGCCACGGAAAGTCCGGT 0.512000 28 53 0 0 1 0 0 KRT40 125115 broad.mit.edu 37 17 39140403 39140403 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:39140403G>A ENST00000377755.4 - 1 157 c.123C>T c.(121-123)tcC>tcT p.S41S KRT40_ENST00000398486.2_Silent_p.S41S Q6A162 K1C40_HUMAN keratin 40 41 Head. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) TCTGACATCGGGATGTAGCAC 0.577000 25 42 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4306197 4306197 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:4306197G>A ENST00000221856.6 + 3 261 c.114G>A c.(112-114)gcG>gcA p.A38A FSD1_ENST00000597590.1_Silent_p.A38A NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 38 cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) CGACCCAGGCGAACTCGGCGA 0.562000 66 130 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4171136 4171136 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:4171136C>T ENST00000602147.1 + 7 912 c.832C>T c.(832-834)Cac>Tac p.H278Y CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.S313S|CREB3L3_ENST00000602257.1_Silent_p.S311S|CREB3L3_ENST00000595923.1_Silent_p.S312S Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 0 Leucine-zipper. response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTGCAGTCCACCAGCAAGT 0.617000 17 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179450028 179450028 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:179450028C>T ENST00000589042.1 - 309 64667 c.64443G>A c.(64441-64443)ggG>ggA p.G21481G TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.G19840G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.G18913G|TTN_ENST00000359218.5_Silent_p.G12541G|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.G12608G|TTN_ENST00000460472.2_Silent_p.G12416G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19840 Fibronectin type-III 55. 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) GGAGTTTTTTCCCAGCTTTGA 0.408000 64 50 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899978 151899978 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:151899978G>A ENST00000393900.3 - 3 1176 c.823C>T c.(823-825)Cca>Tca p.P275S CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.P275S|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P275S NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 275 MAGE. breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AGGGCCCTTGGACCCCACAGG 0.552000 100 37 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155784129 155784129 + Silent SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:155784129A>G ENST00000437809.1 - 9 1395 c.1273T>C c.(1273-1275)Tta>Cta p.L425L GON4L_ENST00000271883.5_Silent_p.L425L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.L425L|GON4L_ENST00000361040.5_Silent_p.L425L Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 425 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) ACCTCTGATAATATGCCACTC 0.378000 23 58 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144392362 144392362 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:144392362G>A ENST00000523676.1 - 14 1690 c.1285C>T c.(1285-1287)Ctg>Ttg p.L429L TOP1MT_ENST00000519148.1_Silent_p.L429L|TOP1MT_ENST00000329245.4_Silent_p.L527L|TOP1MT_ENST00000521193.1_Silent_p.L429L Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 527 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) AGCTTCTCCAGGAGCCGCCTC 0.642000 10 11 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77657038 77657038 + Missense_Mutation SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:77657038C>A ENST00000461745.1 + 21 4126 c.3226C>A c.(3226-3228)Ccc>Acc p.P1076T ROBO2_ENST00000332191.8_Missense_Mutation_p.P1076T|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1092T|ROBO2_ENST00000469233.1_3'UTR NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1076 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.V1079fs*22(1)|p.V1095fs*22(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCCTCTACCTCCCCCCCCAGT 0.433000 14 33 9.31168e-06 9.42603e-06 1 1 0 TRIML2 205860 broad.mit.edu 37 4 189012760 189012760 + Missense_Mutation SNP G G C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:189012760G>C ENST00000512729.1 - 7 1305 c.931C>G c.(931-933)Ctc>Gtc p.L311V TRIML2_ENST00000326754.3_Missense_Mutation_p.L336V NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 311 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TCCAGGAAGAGCCTTTTCAGA 0.537000 58 136 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10402067 10402067 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:10402067C>T ENST00000226207.5 - 30 4151 c.4057G>A c.(4057-4059)Gag>Aag p.E1353K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1353 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCCTGCTCCTCCTCATACTGT 0.552000 49 86 0 0 1 0 0 TRAV19 28664 broad.mit.edu 37 14 22476342 22476342 + RNA SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:22476342C>T ENST00000390447.3 + 0 389 TTCCAGAAATCCACCAGTTCC 0.463000 9 10 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128404961 128404961 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:128404961G>A ENST00000368227.3 - 9 1840 c.1474C>T c.(1474-1476)Ccc>Tcc p.P492S PTPRK_ENST00000368215.3_Missense_Mutation_p.P492S|PTPRK_ENST00000368207.3_Missense_Mutation_p.P492S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P492S|PTPRK_ENST00000368213.5_Missense_Mutation_p.P492S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.P492S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P492S Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 492 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACTGGTACGGGACCAGGCACT 0.318000 12 9 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167145061 167145061 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:167145061C>T ENST00000303354.6 - 10 1543 c.1203G>A c.(1201-1203)gtG>gtA p.V401V SCN9A_ENST00000375387.4_Silent_p.V401V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.V400V|SCN9A_ENST00000409435.1_Silent_p.V400V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 400 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCATGGCAACCACAGCCAGGA 0.413000 21 46 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 21 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5303383 5303383 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:5303383G>A ENST00000274181.7 + 19 2930 c.2792G>A c.(2791-2793)tGg>tAg p.W931* NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 931 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CTGCCCAGCTGGTCCGTGGGG 0.657000 6 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083098 9083098 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:9083098G>A ENST00000397910.4 - 1 8920 c.8717C>T c.(8716-8718)tCt>tTt p.S2906F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2907 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTTGGTAAAGAAGCGGACTT 0.493000 15 25 0 0 1 0 0 LIN28A 79727 broad.mit.edu 37 1 26751942 26751942 + Missense_Mutation SNP G G A rs141345172 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:26751942G>A ENST00000326279.6 + 3 491 c.377G>A c.(376-378)gGa>gAa p.G126E LIN28A_ENST00000254231.4_Missense_Mutation_p.G126E NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 126 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 CGGCCAAAAGGAAAGAGCATG 0.512000 44 81 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172935770 172935770 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:172935770C>T ENST00000315796.4 + 6 1063 c.676C>T c.(676-678)Ccc>Tcc p.P226S METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 226 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 AGCAGGGGCTCCCTTCTCTGT 0.448000 17 49 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27959127 27959127 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:27959127G>A ENST00000269033.3 - 15 3155 c.3004C>T c.(3004-3006)Cct>Tct p.P1002S SSH2_ENST00000540801.1_Missense_Mutation_p.P1029S|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1002 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGGGGAAGAGGGACTGCTTGT 0.502000 27 42 0 0 1 0 0 RIPK2 8767 broad.mit.edu 37 8 90784906 90784906 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:90784906C>T ENST00000220751.4 + 6 1017 c.703C>T c.(703-705)Cct>Tct p.P235S RIPK2_ENST00000540020.1_Missense_Mutation_p.P98S NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 235 Protein kinase. activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TGTCACCAATCCTTTGCAGAT 0.318000 23 23 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173616054 173616054 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:173616054C>T ENST00000333279.2 - 3 487 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 159 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 GCCCTTTCTTCCCGGAAGTTC 0.473000 39 59 0 0 1 0 0 ZNF442 79973 broad.mit.edu 37 19 12461104 12461104 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:12461104G>A ENST00000242804.4 - 6 1877 c.1295C>T c.(1294-1296)cCc>cTc p.P432L ZNF442_ENST00000438182.1_Missense_Mutation_p.P363L NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 ACATTCATAGGGTTTCTCACC 0.408000 25 36 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129901277 129901277 + Splice_Site SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:129901277C>A ENST00000368149.2 - 14 1927 c.e14-1 ARHGAP18_ENST00000463225.1_Splice_Site NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGCAACCCCACTATGAGGGAC 0.363000 3 17 2.56e-06 2.59599e-06 1 1 0 SYMPK 8189 broad.mit.edu 37 19 46351038 46351038 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:46351038G>A ENST00000245934.7 - 7 892 c.648C>T c.(646-648)atC>atT p.I216I NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 216 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGTCACGAGGGATGCGGTCCA 0.597000 20 36 0 0 1 0 0 UPK1A 11045 broad.mit.edu 37 19 36166856 36166856 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:36166856G>A ENST00000222275.2 + 5 583 c.583G>A c.(583-585)Gga>Aga p.G195R UPK1A_ENST00000379013.2_Missense_Mutation_p.G195R NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 195 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCGCCGGACGGGAAACTTCAT 0.637000 23 54 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73830401 73830401 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:73830401G>A ENST00000264448.6 + 21 12440 c.12329G>A c.(12328-12330)aGc>aAc p.S4110N ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.S4068N NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4110 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAGCCTATCAGCAAGAAGGAA 0.483000 26 35 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478238 42478238 + Nonsense_Mutation SNP T T A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:42478238T>A ENST00000434000.1 - 9 1255 c.973A>T c.(973-975)Aaa>Taa p.K325* GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.K403* Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 403 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGTTTTACTTTGCAGTGTGCT 0.418000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 64 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538343 63538343 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:63538343C>T ENST00000550760.3 + 4 1095 c.916C>T c.(916-918)Cat>Tat p.H306Y NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TAAGAGAATTCATACTGGAGA 0.368000 3 8 0 0 1 0 0 NFKBID 84807 broad.mit.edu 37 19 36380805 36380805 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:36380805G>A ENST00000396901.1 - 11 1448 c.875C>T c.(874-876)cCg>cTg p.P292L NFKBID_ENST00000352614.2_Missense_Mutation_p.P444L|NFKBID_ENST00000340950.2_Missense_Mutation_p.P129L|NFKBID_ENST00000606253.1_Missense_Mutation_p.P292L NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 292 inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 CTCAGGGCCCGGCCCGGGCCG 0.687000 42 78 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32024646 32024646 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:32024646G>A ENST00000375244.3 - 23 8061 c.7860C>T c.(7858-7860)acC>acT p.T2620T TNXB_ENST00000375247.2_Silent_p.T2620T P22105 TENX_HUMAN tenascin XB 2680 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGGGTCATGGTAGGCACTG 0.622000 48 108 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20069161 20069161 + Splice_Site SNP A A C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:20069161A>C ENST00000276390.2 + 7 643 c.e7-1 NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TTTGTTCATCAGATTGCAGCT 0.328000 14 35 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38350718 38350718 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:38350718A>G ENST00000322350.5 + 4 753 c.407A>G c.(406-408)cAa>cGa p.Q136R EGFLAM_ENST00000354891.3_Missense_Mutation_p.Q136R NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 136 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACTTTGTCCCAAGGTAAAGTA 0.478000 28 38 0 0 1 0 0 TOMM34 10953 broad.mit.edu 37 20 43580559 43580559 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:43580559C>T ENST00000372813.3 - 4 617 c.465G>A c.(463-465)caG>caA p.Q155Q PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 155 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) TCCACCTCTTCTGAGCTGAAA 0.517000 34 64 0 0 1 0 0 TCF3 6929 broad.mit.edu 37 19 1615722 1615722 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:1615722C>T ENST00000262965.5 - 17 1893 c.1549G>A c.(1549-1551)Gag>Aag p.E517K TCF3_ENST00000588136.1_Missense_Mutation_p.E517K|TCF3_ENST00000453954.2_Missense_Mutation_p.E433K|TCF3_ENST00000395423.3_Missense_Mutation_p.E466K|TCF3_ENST00000344749.5_Missense_Mutation_p.E517K NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 517 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCTTCTTCTCCTCCTCCGAG 0.687000 T """PBX1, HLF, TFPT""" pre B-ALL 41 85 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44235875 44235875 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr22:44235875G>A ENST00000330884.4 - 3 451 c.331C>T c.(331-333)Cac>Tac p.H111Y SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.H111Y NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 111 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) TAGGGCAGGTGGCTCTTGATG 0.617000 4 11 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830128 23830128 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:23830128C>T ENST00000264867.2 - 5 771 c.652G>A c.(652-654)Gat>Aat p.D218N PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 218 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GGAGGGTCATCGTTTGTGGTC 0.468000 33 82 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149708 45149708 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:45149708G>A ENST00000458659.2 - 1 993 c.503C>T c.(502-504)cCc>cTc p.P168L TSC22D1_ENST00000501704.2_Missense_Mutation_p.P168L NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 168 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) GCTGCGTTCGGGCTCCCCTAA 0.527000 29 43 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23768743 23768743 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:23768743G>A ENST00000354639.3 + 6 753 c.289G>A c.(289-291)Gaa>Aaa p.E97K STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E120K|STK31_ENST00000428484.1_Missense_Mutation_p.E97K|STK31_ENST00000355870.3_Missense_Mutation_p.E120K NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 120 Tudor. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGGAAATACTGAAATTCTAAA 0.358000 11 21 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599532 136599532 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:136599532C>T ENST00000531224.1 - 4 739 c.487G>A c.(487-489)Gaa>Aaa p.E163K BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 163 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTTTGTTTTTCCTGAGACCCT 0.433000 24 126 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55142481 55142481 + Missense_Mutation SNP G G A rs114930141 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:55142481G>A ENST00000427581.2 + 1 398 c.65G>A c.(64-66)cGa>cAa p.R22Q LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000324602.7_5'UTR|LILRB1_ENST00000396327.3_5'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396332.4_5'UTR|LILRB1_ENST00000434867.2_5'UTR|LILRB1_ENST00000396331.1_5'UTR Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 0 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGCCAGCACCGAGGGCTCATC 0.582000 HNSCC(37;0.09) 27 35 0 0 1 0 0 TMEM45A 55076 broad.mit.edu 37 3 100295833 100295833 + Silent SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:100295833C>A ENST00000403410.1 + 8 1467 c.847C>A c.(847-849)Cga>Aga p.R283R TMEM45A_ENST00000323523.4_Silent_p.R267R Q9NWC5 TM45A_HUMAN transmembrane protein 45A 267 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 AAATGCTGAACGAGAACAAGA 0.368000 14 23 8.60227e-14 8.80055e-14 1 1 0 PROKR2 128674 broad.mit.edu 37 20 5294791 5294791 + Silent SNP G G A rs139296723 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:5294791G>A ENST00000546004.1 - 2 471 c.225C>T c.(223-225)atC>atT p.I75I PROKR2_ENST00000217270.3_Silent_p.I75I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 75 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TGAGGGCAGCGATAAAGACAA 0.552000 HNSCC(71;0.22) 40 82 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658978 55658978 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:55658978G>A ENST00000449290.2 + 7 1321 c.1229G>A c.(1228-1230)gGa>gAa p.G410E TRIM51_ENST00000244891.3_Missense_Mutation_p.G267E NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 410 B30.2/SPRY. intracellular zinc ion binding AGCACAGTAGGATTATTCCTG 0.463000 38 51 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94158280 94158280 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:94158280C>T ENST00000553484.1 + 48 7795 c.7641C>T c.(7639-7641)gcC>gcT p.A2547A UNC79_ENST00000555664.1_Silent_p.A2486A|UNC79_ENST00000393151.2_Silent_p.A2525A|UNC79_ENST00000256339.4_Silent_p.A2348A Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2525 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGCTAATGGCCCATAACAAAG 0.453000 28 54 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85538796 85538796 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:85538796G>A ENST00000295887.5 + 4 845 c.422G>A c.(421-423)tGg>tAg p.W141* NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 141 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GATCTACCATGGTTTAGAACA 0.343000 4 11 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6640113 6640113 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:6640113C>T ENST00000299427.6 - 3 183 c.123G>A c.(121-123)gcG>gcA p.A41A RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000534644.1_Intron NM_000391.3 NP_000382.3 O14773 TPP1_HUMAN tripeptidyl peptidase I 41 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) CCTCAGGGTCCGCACGGCCCA 0.592000 29 58 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55481495 55481495 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:55481495G>A ENST00000543010.1 + 2 255 c.112G>A c.(112-114)Gag>Aag p.E38K NLRP2_ENST00000448584.2_Missense_Mutation_p.E38K|NLRP2_ENST00000391721.4_Missense_Mutation_p.E38K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E38K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E38K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E38K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E38K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E38K NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 38 DAPIN. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CCTGGCACACGAGCTCCAGAA 0.557000 29 48 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115489880 115489880 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:115489880C>T ENST00000369522.3 + 27 2501 c.2261C>T c.(2260-2262)tCc>tTc p.S754F SYCP1_ENST00000369518.1_Missense_Mutation_p.S754F NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 754 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTGAACTATCCAATCTCAAA 0.308000 8 16 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816665 77816665 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:77816665C>T ENST00000334306.2 - 1 2337 c.2338G>A c.(2338-2340)Gag>Aag p.E780K NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 780 TGGAATTTCTCATACTGGTTG 0.488000 39 73 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201499582 201499582 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:201499582G>A ENST00000374700.2 + 21 2531 c.2290G>A c.(2290-2292)Gga>Aga p.G764R AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 764 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CGTTCCCAAGGGAGAGGATCA 0.403000 26 49 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844332 123844332 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:123844332G>A ENST00000369005.1 + 4 2657 c.2317G>A c.(2317-2319)Gaa>Aaa p.E773K TACC2_ENST00000515273.1_Missense_Mutation_p.E773K|TACC2_ENST00000515603.1_Missense_Mutation_p.E773K|TACC2_ENST00000453444.2_Missense_Mutation_p.E773K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E773K|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 773 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTCGAGACAGGAATTTCATGC 0.612000 45 45 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30999035 30999035 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:30999035C>T ENST00000298139.5 + 25 3306 c.3057C>T c.(3055-3057)tcC>tcT p.S1019S NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1019 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AGGCTTTTTCCCGTCAGCTGA 0.438000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 26 44 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390223 150390223 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:150390223G>A ENST00000223293.5 + 3 943 c.849G>A c.(847-849)ttG>ttA p.L283L NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 283 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTCAGATTGATAATTCTGT 0.353000 8 16 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9581118 9581118 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:9581118T>C ENST00000301480.4 - 7 611 c.398A>G c.(397-399)aAc>aGc p.N133S NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 133 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ACTGTACAGGTTTCTCTGAGC 0.468000 38 60 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87045037 87045037 + Splice_Site SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:87045037G>A ENST00000370563.3 + 13 2165 c.2122_splice c.e13-1 p.G708_splice RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 708 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTTAATGCAGGGGAAATTGAA 0.398000 20 27 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90129000 90129000 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:90129000C>T ENST00000268138.7 + 4 1343 c.1238C>T c.(1237-1239)tCt>tTt p.S413F RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S412F TOPBP1-interacting checkpoint and replication regulator TCCCCACTCTCTGCCAGTGCT 0.532000 18 34 0 0 1 0 0 NFKBID 84807 broad.mit.edu 37 19 36380806 36380806 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:36380806G>A ENST00000396901.1 - 11 1447 c.874C>T c.(874-876)Ccg>Tcg p.P292S NFKBID_ENST00000352614.2_Missense_Mutation_p.P444S|NFKBID_ENST00000340950.2_Missense_Mutation_p.P129S|NFKBID_ENST00000606253.1_Missense_Mutation_p.P292S NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 292 inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 TCAGGGCCCGGCCCGGGCCGC 0.687000 42 79 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205899127 205899127 + Missense_Mutation SNP T T G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:205899127T>G ENST00000367135.3 - 6 723 c.610A>C c.(610-612)Atc>Ctc p.I204L SLC26A9_ENST00000340781.4_Missense_Mutation_p.I204L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.I204L NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 204 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AAGCCCCGGATGAAGGACTCG 0.577000 22 36 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 209918 209918 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:209918C>T ENST00000526104.1 + 3 1988 c.644C>T c.(643-645)tCc>tTc p.S215F RIC8A_ENST00000527696.1_Missense_Mutation_p.S209F|RIC8A_ENST00000325207.5_Missense_Mutation_p.S215F Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A 215 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CTCCTTCCTTCCCAAGAGACT 0.582000 23 47 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159900142 159900142 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:159900142C>T ENST00000368094.1 - 15 2098 c.1901G>A c.(1900-1902)aGg>aAg p.R634K IGSF9_ENST00000361509.3_Missense_Mutation_p.R618K|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 634 Fibronectin type-III 2. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CCGGGGTGTCCTCACTGCCAC 0.672000 62 104 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151874755 151874755 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:151874755G>A ENST00000355193.2 - 38 8001 c.7783C>T c.(7783-7785)Ccc>Tcc p.P2595S KMT2C_ENST00000262189.6_Missense_Mutation_p.P2595S lysine (K)-specific methyltransferase 2C TCTGGCCGGGGAATGAAGTTT 0.557000 68 47 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66441150 66441150 + Missense_Mutation SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:66441150C>A ENST00000404260.3 + 23 3354 c.3046C>A c.(3046-3048)Cag>Aag p.Q1016K MAST4_ENST00000405643.1_Missense_Mutation_p.Q834K|MAST4_ENST00000403625.2_Missense_Mutation_p.Q1013K|MAST4_ENST00000261569.7_Missense_Mutation_p.Q819K|MAST4_ENST00000403666.1_Missense_Mutation_p.Q824K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1016 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGAGTGTGCCCAGGAGGAGCC 0.617000 8 36 0.000442599 0.000443368 1 1 0 ABCC6 368 broad.mit.edu 37 16 16276740 16276740 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:16276740G>A ENST00000205557.7 - 16 2020 c.1991C>T c.(1990-1992)cCa>cTa p.P664L ABCC6_ENST00000574094.1_Intron NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 664 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TGCCCCCACTGGACCGACAAC 0.632000 26 69 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222216 118222216 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:118222216G>A ENST00000402510.2 - 11 2976 c.2977C>T c.(2977-2979)Cct>Tct p.P993S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 993 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TGAACTTTAGGATTCATCAAG 0.453000 36 10 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19318082 19318082 + Splice_Site SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:19318082G>A ENST00000461366.1 + 10 1223 c.e10-1 NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CTGCCTCACAGAGATTGTCTG 0.637000 10 27 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789838 6789838 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:6789838G>A ENST00000338569.2 - 1 448 c.351C>T c.(349-351)ttC>ttT p.F117F NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CATAGGCCATGAAGGCCAGTA 0.517000 31 47 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020107 56020107 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:56020107C>T ENST00000303059.3 + 1 432 c.432C>T c.(430-432)ctC>ctT p.L144L NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) AATGTTTTCTCTTGGCTGCAA 0.403000 47 80 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50214030 50214030 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:50214030C>T ENST00000392518.4 + 16 2154 c.1782C>T c.(1780-1782)ttC>ttT p.F594F CPT1C_ENST00000598293.1_Silent_p.F594F|CPT1C_ENST00000405931.2_Silent_p.F583F|CPT1C_ENST00000354199.5_Silent_p.F594F|CPT1C_ENST00000323446.5_Silent_p.F594F NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 594 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) CTCGCTTATTCCTGGAAGGCC 0.602000 13 57 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130605399 130605399 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:130605399G>A ENST00000344849.3 - 2 473 c.193C>T c.(193-195)Cat>Tat p.H65Y ENG_ENST00000373203.4_Missense_Mutation_p.H65Y P17813 EGLN_HUMAN endoglin 65 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 AAGAGGACATGGACTTCAAGG 0.632000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 67 48 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961235 1961235 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:1961235C>T ENST00000217305.2 - 4 724 c.499G>A c.(499-501)Gac>Aac p.D167N PDYN_ENST00000539905.1_Missense_Mutation_p.D167N|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.D167N NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 167 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCTTGGGGTCCTCCTCAGCG 0.597000 47 79 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102820890 102820890 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:102820890G>A ENST00000260302.3 - 6 894 c.866C>T c.(865-867)tCc>tTc p.S289F MMP13_ENST00000340273.4_Missense_Mutation_p.S289F NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 289 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GGCATCAAGGGATAAGGAAGG 0.433000 41 87 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101333101 101333101 + Translation_Start_Site SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:101333101G>A ENST00000299222.9 + 0 380 ANO4_ENST00000538618.1_Missense_Mutation_p.D223N|ANO4_ENST00000392979.3_Missense_Mutation_p.D22N|ANO4_ENST00000392977.3_Missense_Mutation_p.D57N Q32M45 ANO4_HUMAN anoctamin 4 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGTGGCCAAGGATGTCAATAT 0.383000 HNSCC(74;0.22) 19 38 0 0 1 0 0 HSPB3 8988 broad.mit.edu 37 5 53752062 53752062 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:53752062G>A ENST00000302005.1 + 1 618 c.443G>A c.(442-444)gGg>gAg p.G148E NM_006308.2 NP_006299.1 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 148 cell death|response to heat|response to unfolded protein cytoplasm|nucleus breast(1)|large_intestine(4)|prostate(3) 8 Lung NSC(810;0.00104) GATCCAGTTGGGACTAAGTGA 0.438000 42 72 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94049584 94049584 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:94049584C>T ENST00000297268.6 + 35 2590 c.2119C>T c.(2119-2121)Cct>Tct p.P707S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 707 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) tcctgctggtcctCGGGGAAG 0.458000 HNSCC(75;0.22) 38 60 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111674 57111674 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:57111674G>A ENST00000454682.1 - 3 3921 c.3640C>T c.(3640-3642)Ccc>Tcc p.P1214S NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GCCCCTTTGGGGGATGGGGTA 0.637000 T BCL6 NHL 34 74 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193049097 193049097 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:193049097G>A ENST00000342358.4 - 12 1393 c.1276C>T c.(1276-1278)Cct>Tct p.P426S NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 426 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TCTTTTGGAGGAACCTGGGAG 0.537000 17 24 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238508 48238508 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:48238508C>T ENST00000309562.2 + 1 165 c.147C>T c.(145-147)atC>atT p.I49I NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CGGTCAGTATCAGCAAGAGTC 0.507000 56 95 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67040632 67040632 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:67040632G>A ENST00000315962.4 + 2 635 c.262G>A c.(262-264)Gat>Aat p.D88N TRIM55_ENST00000276573.7_Missense_Mutation_p.D88N|TRIM55_ENST00000350034.4_Missense_Mutation_p.D88N|TRIM55_ENST00000353317.5_Missense_Mutation_p.D88N NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 88 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGTGGTTTTGGATAGACATGG 0.507000 84 82 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54099713 54099713 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:54099713G>A ENST00000328235.4 - 14 2688 c.2632C>T c.(2632-2634)Cag>Tag p.Q878* FAM120C_ENST00000375180.2_Missense_Mutation_p.S1015L Q9NX05 F120C_HUMAN family with sequence similarity 120C 0 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AACTCCATCTGAAGAGCCCTG 0.473000 23 4 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6386961 6386961 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:6386961G>A ENST00000262483.8 - 6 550 c.463C>T c.(463-465)Cac>Tac p.H155Y ACKR6_ENST00000421306.3_Missense_Mutation_p.H119Y NM_031220.3 NP_112497.2 CTGAAGGTGTGGATGTCGGCT 0.627000 18 54 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32933053 32933053 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:32933053C>T ENST00000383763.4 + 4 2420 c.2357C>T c.(2356-2358)tCg>tTg p.S786L NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 786 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TTTCTGGGCTCGGAGGGCACA 0.607000 33 60 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105889407 105889407 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:105889407G>A ENST00000393359.2 - 10 2303 c.1877C>T c.(1876-1878)tCc>tTc p.S626F TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S626F Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 626 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCCACTGGCGGAGGCCCTCTG 0.577000 36 59 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142565375 142565375 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:142565375C>T ENST00000392957.2 + 12 2547 c.1760C>T c.(1759-1761)tCc>tTc p.S587F EPHB6_ENST00000411471.2_Missense_Mutation_p.S310F|EPHB6_ENST00000442129.1_Missense_Mutation_p.S587F NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 587 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GAGCTGTCTTCCCAGCTTCCG 0.637000 10 13 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579692 55579692 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:55579692C>T ENST00000333973.2 + 1 839 c.750C>T c.(748-750)gtC>gtT p.V250V NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTATCACTGTCTTCCATGGAA 0.517000 32 53 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77678003 77678003 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:77678003C>T ENST00000296043.6 + 8 6064 c.5111C>T c.(5110-5112)cCc>cTc p.P1704L NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1704 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGTTTGTTTCCCCGAGATGTG 0.468000 25 54 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1562680 1562680 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:1562680G>A ENST00000572621.1 - 31 5374 c.5109C>T c.(5107-5109)atC>atT p.I1703I PRPF8_ENST00000304992.6_Silent_p.I1703I Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1703 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGTCAATGGCGATGAGTACAC 0.537000 51 81 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78413445 78413445 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:78413445G>A ENST00000278550.7 - 28 4675 c.4213C>T c.(4213-4215)Cac>Tac p.H1405Y NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CACTCCAGGTGAACCTGACAA 0.488000 39 74 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499306 75499306 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:75499306C>T ENST00000360639.2 + 2 1237 c.917C>T c.(916-918)cCt>cTt p.P306L C15orf39_ENST00000394987.4_Missense_Mutation_p.P306L|C15orf39_ENST00000567617.1_Missense_Mutation_p.P306L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 306 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CCACTGCAGCCTCTGGGGGGC 0.697000 22 38 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53468916 53468916 + Silent SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:53468916A>G ENST00000301463.4 - 4 420 c.334T>C c.(334-336)Ttg>Ctg p.L112L SPRYD3_ENST00000547837.1_Silent_p.L149L NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 112 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GAGTCAGGCAACCAGCCAGGC 0.532000 40 85 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123377059 123377059 + Missense_Mutation SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:123377059G>T ENST00000275162.4 + 5 2119 c.784G>T c.(784-786)Gca>Tca p.A262S CLVS2_ENST00000368438.1_Missense_Mutation_p.A116S NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 262 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GGGGACATGGGCAAGAACACT 0.478000 5 70 0.000602214 0.000602214 1 1 0 ZNF318 24149 broad.mit.edu 37 6 43316306 43316306 + Missense_Mutation SNP A A C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:43316306A>C ENST00000361428.2 - 6 2905 c.2828T>G c.(2827-2829)gTg>gGg p.V943G ZNF318_ENST00000318149.3_Missense_Mutation_p.V943G NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 943 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) ACTCACCTCCACCAAGAGAGG 0.458000 58 69 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171077327 171077327 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:171077327G>A ENST00000367755.4 + 5 703 c.592G>A c.(592-594)Gat>Aat p.D198N FMO3_ENST00000538429.1_Missense_Mutation_p.D135N|FMO3_ENST00000542847.1_Missense_Mutation_p.D178N|FMO3_ENST00000392085.2_Missense_Mutation_p.D198N NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 198 D -> E. xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCGGGCTGTGATATTGCCAC 0.498000 18 52 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215807728 215807728 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:215807728C>T ENST00000272895.7 - 50 7576 c.7357G>A c.(7357-7359)Gaa>Aaa p.E2453K ABCA12_ENST00000389661.4_Missense_Mutation_p.E2135K|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2453 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CAGAGAGCTTCACATTCTTCC 0.378000 11 35 0 0 1 0 0 NR1H4 9971 broad.mit.edu 37 12 100904735 100904735 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:100904735G>A ENST00000548884.1 + 4 800 c.259G>A c.(259-261)Gaa>Aaa p.E87K NR1H4_ENST00000551379.1_Missense_Mutation_p.E97K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E97K|NR1H4_ENST00000392986.3_Missense_Mutation_p.E87K|NR1H4_ENST00000549996.1_Missense_Mutation_p.E87K NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 97 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TGGAATATATGAACTCAGGCG 0.522000 36 55 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116397530 116397530 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:116397530C>T ENST00000397752.3 + 7 2102 c.1902C>T c.(1900-1902)ttC>ttT p.F634F MET_ENST00000318493.6_Silent_p.F634F|MET_ENST00000436117.2_Silent_p.F634F NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 634 IPT/TIG 1. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATAAGCATTTCAATATGTCCA 0.348000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 21 13 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133236 57133236 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:57133236C>T ENST00000328070.6 + 3 815 c.581C>T c.(580-582)gCc>gTc p.A194V NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 194 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) TGCGGCAAGGCCTTCAGCCAG 0.642000 24 42 0 0 1 0 0 SNTB2 6645 broad.mit.edu 37 16 69333599 69333599 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:69333599C>T ENST00000336278.4 + 6 1490 c.1452C>T c.(1450-1452)ccC>ccT p.P484P VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Silent_p.P5P NM_006750.3 NP_006741.1 Q13425 SNTB2_HUMAN syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 484 SU. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) ACCGCTACCCCTTTGAAAGGC 0.453000 17 58 0 0 1 0 0 SLC45A3 85414 broad.mit.edu 37 1 205632615 205632615 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:205632615G>A ENST00000367145.3 - 3 599 c.304C>T c.(304-306)Ctc>Ttc p.L102F NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 102 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CTTGGGATGAGAAAGAGGCTC 0.677000 T """ETV1, ETV5, ELK4, ERG""" prostate 19 35 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576534 158576534 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:158576534C>T ENST00000361284.1 + 1 306 c.306C>T c.(304-306)ttC>ttT p.F102F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F102L(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CCCAGATGTTCTTTTCTGCCT 0.557000 62 116 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44917257 44917257 + Missense_Mutation SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:44917257C>A ENST00000429094.2 - 17 2319 c.1815G>T c.(1813-1815)gaG>gaT p.E605D NELL2_ENST00000551601.1_Missense_Mutation_p.E557D|NELL2_ENST00000395487.2_Missense_Mutation_p.E604D|NELL2_ENST00000333837.4_Missense_Mutation_p.E628D|NELL2_ENST00000452445.2_Missense_Mutation_p.E605D|NELL2_ENST00000437801.2_Missense_Mutation_p.E655D|NELL2_ENST00000549027.1_Missense_Mutation_p.E604D NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 605 EGF-like 6; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CGGTCCCACACTCATCAATAT 0.448000 27 27 4.59853e-10 4.6879e-10 1 1 0 OR10P1 121130 broad.mit.edu 37 12 56030935 56030935 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:56030935C>T ENST00000309675.2 + 1 292 c.260C>T c.(259-261)tCc>tTc p.S87F NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 AATCTGGGCTCCCCGCATCCC 0.617000 28 53 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810635 123810635 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:123810635C>T ENST00000307033.2 + 1 386 c.312C>T c.(310-312)ttC>ttT p.F104F NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCTTCTTCTTCCACTTCATTG 0.493000 29 57 0 0 1 0 0 AGFG1 3267 broad.mit.edu 37 2 228418503 228418503 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:228418503C>T ENST00000310078.7 + 12 1881 c.1621C>T c.(1621-1623)Cct>Tct p.P541S AGFG1_ENST00000373671.3_Missense_Mutation_p.P501S|AGFG1_ENST00000409171.1_Missense_Mutation_p.P539S|AGFG1_ENST00000409979.2_Missense_Mutation_p.P563S|AGFG1_ENST00000409315.1_Missense_Mutation_p.P520S NM_001135188.1|NM_004504.4 NP_001128660.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 541 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 ATCTAGTAATCCTTTTATGGT 0.318000 22 56 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176409576 176409576 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:176409576G>A ENST00000377219.2 - 2 207 c.41C>T c.(40-42)tCt>tTt p.S14F UIMC1_ENST00000506128.1_Missense_Mutation_p.S14F|UIMC1_ENST00000377227.4_Missense_Mutation_p.S14F|UIMC1_ENST00000511320.1_Missense_Mutation_p.S14F NM_016290.4 NP_057374.3 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 14 Necessary for transcriptional repression. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGGTTCCGAGATTCGGAGAC 0.373000 27 32 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56031341 56031341 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:56031341C>T ENST00000309675.2 + 1 698 c.666C>T c.(664-666)atC>atT p.I222I NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 ACATCCGCATCCTGGGTGCCA 0.552000 45 90 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714018 183714018 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:183714018G>A ENST00000511685.1 + 26 6316 c.6193G>A c.(6193-6195)Gat>Aat p.D2065N TENM3_ENST00000406950.2_Missense_Mutation_p.D2065N teneurin transmembrane protein 3 TATATATTATGATATTAACCA 0.388000 19 18 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212241963 212241963 + Missense_Mutation SNP T T A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:212241963T>A ENST00000366991.4 + 10 1154 c.840T>A c.(838-840)gaT>gaA p.D280E DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.D238E NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 280 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) TGATTTTGGATTCCACTGGCT 0.363000 10 25 0 0 1 0 0 TMEM74 157753 broad.mit.edu 37 8 109796685 109796685 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:109796685C>T ENST00000297459.3 - 2 821 c.643G>A c.(643-645)Gag>Aag p.E215K TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 215 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) TCCAGGCGCTCCATCTCCCGG 0.622000 27 71 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241262011 241262011 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:241262011G>A ENST00000366565.1 - 3 511 c.130C>T c.(130-132)Cgt>Tgt p.R44C RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 44 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.R44S(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTGACCGTACGAATAGGAATT 0.358000 9 19 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37295921 37295921 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:37295921G>A ENST00000233099.5 - 8 1175 c.1080C>T c.(1078-1080)atC>atT p.I360I HEATR5B_ENST00000354531.2_Silent_p.I360I NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 360 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TAGCTCTTAGGATAAAGGAAA 0.473000 26 33 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32332521 32332521 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:32332521G>A ENST00000298386.2 + 2 292 c.221G>A c.(220-222)gGg>gAg p.G74E RXFP2_ENST00000380314.1_Missense_Mutation_p.G74E NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 74 LDL-receptor class A. integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGTGGGAACGGGGCGGACGAA 0.507000 36 61 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33954165 33954165 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:33954165C>T ENST00000361328.3 + 3 671 c.518C>T c.(517-519)tCc>tTc p.S173F ZSCAN20_ENST00000373413.2_Missense_Mutation_p.S173F|ZSCAN20_ENST00000480917.1_3'UTR NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 173 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GAGGGACAGTCCCAGAAGAAG 0.537000 13 36 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138333786 138333786 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:138333786G>A ENST00000421622.1 - 4 479 c.271C>T c.(271-273)Ccg>Tcg p.P91S SVOPL_ENST00000288513.5_Missense_Mutation_p.P59S|SVOPL_ENST00000436657.1_Missense_Mutation_p.P59S|SVOPL_ENST00000419765.3_Missense_Mutation_p.P211S Q8N434 SVOPL_HUMAN SVOP-like 211 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 ATGATGCCCGGGATGGAGGCG 0.612000 22 66 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097408 167097408 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:167097408G>A ENST00000361200.2 + 6 3206 c.3040G>A c.(3040-3042)Gag>Aag p.E1014K DUSP27_ENST00000271385.5_Missense_Mutation_p.E1014K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E1014K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1014 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CTCCACCAGGGAGGGCAGAGA 0.557000 20 43 0 0 1 0 0 AKR1A1 10327 broad.mit.edu 37 1 46034249 46034249 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:46034249C>T ENST00000372070.3 + 7 1392 c.645C>T c.(643-645)tcC>tcT p.S215S AKR1A1_ENST00000351829.4_Silent_p.S215S NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 215 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) CTTTGGGCTCCTCTGATCGTG 0.542000 26 42 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115091187 115091187 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:115091187C>T ENST00000361283.1 + 3 2179 c.1870C>T c.(1870-1872)Caa>Taa p.Q624* NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 624 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding GAAAGACAACCAAGAGAGCTC 0.388000 30 57 0 0 1 0 0 CCDC102A 92922 broad.mit.edu 37 16 57559838 57559838 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:57559838G>A ENST00000258214.2 - 3 1033 c.787C>T c.(787-789)Cag>Tag p.Q263* NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 263 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 AGCACCTTCTGGGACTCATCC 0.667000 12 49 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193039583 193039583 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:193039583G>A ENST00000342358.4 - 16 1919 c.1802C>T c.(1801-1803)tCc>tTc p.S601F NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 601 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAGGCTCGAGGAAAATGGAAA 0.502000 22 22 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37488226 37488226 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:37488226C>T ENST00000455427.2 + 9 1770 c.1441C>T c.(1441-1443)Cgt>Tgt p.R481C NM_001204839.1 NP_001191768.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 568 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGTCCTTTCGTCGTGGCTC 0.443000 7 10 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7668868 7668868 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:7668868G>A ENST00000572933.1 + 21 4956 c.3496G>A c.(3496-3498)Gat>Aat p.D1166N DNAH2_ENST00000389173.2_Missense_Mutation_p.D1166N Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1166 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACTTCTGGAAGATTTCGAATT 0.483000 33 49 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568258 223568258 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:223568258G>A ENST00000366875.3 + 1 1544 c.1441G>A c.(1441-1443)Gag>Aag p.E481K NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 481 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GGCCCAGAAGGAGGAAGAGCA 0.592000 23 42 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8873701 8873701 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:8873701G>A ENST00000256707.3 - 29 4107 c.3926C>T c.(3925-3927)tCc>tTc p.S1309F KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1290F|KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1210F|KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1290F NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1309 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCGTTGTGGGAAGCGCGGCG 0.612000 41 68 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111944562 111944562 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:111944562G>A ENST00000375741.2 + 20 2545 c.2295G>A c.(2293-2295)ttG>ttA p.L765L ARHGEF7_ENST00000317133.5_Silent_p.L744L|ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000478679.1_Silent_p.L509L|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375739.2_Silent_p.L715L|ARHGEF7_ENST00000218789.5_Silent_p.L587L|ARHGEF7_ENST00000375723.1_Silent_p.L587L|ARHGEF7_ENST00000375736.4_Intron NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 765 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTTCTCGTTTGGAGCCTTCAG 0.493000 32 60 0 0 1 0 0 ATF7 11016 broad.mit.edu 37 12 53928382 53928382 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:53928382G>A ENST00000420353.2 - 6 613 c.464C>T c.(463-465)tCc>tTc p.S155F RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.S155F|ATF7_ENST00000548446.2_Missense_Mutation_p.S166F|ATF7_ENST00000415113.1_Missense_Mutation_p.S134F|ATF7_ENST00000328463.7_Missense_Mutation_p.S166F|ATF7_ENST00000456903.4_Missense_Mutation_p.S155F NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 166 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 GAGAGGCAGGGAGCCAGGACG 0.512000 37 42 0 0 1 0 0 TBC1D28 254272 broad.mit.edu 37 17 18544609 18544609 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:18544609G>A ENST00000345096.4 - 3 756 c.57C>T c.(55-57)atC>atT p.I19I TBC1D28_ENST00000405044.1_Silent_p.I19I Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 19 intracellular Rab GTPase activator activity breast(1)|large_intestine(5)|lung(2)|ovary(1) 9 ACTTAGTAATGATGATATTGC 0.587000 21 37 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128113084 128113084 + Missense_Mutation SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:128113084C>A ENST00000470056.1 + 20 3581 c.3421C>A c.(3421-3423)Cgc>Agc p.R1141S GAPVD1_ENST00000265956.4_Missense_Mutation_p.R1160S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R1168S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R1147S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R1195S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R1186S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R1120S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.R1186S Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1186 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AGAAACAATGCGCTGTGTGTG 0.363000 27 14 4.7796e-09 4.85534e-09 1 1 0 KRT6B 3854 broad.mit.edu 37 12 52842677 52842677 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:52842677G>A ENST00000252252.3 - 6 1199 c.1152C>T c.(1150-1152)atC>atT p.I384I NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 384 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TCATGCGGTTGATCTCAGCAA 0.522000 32 53 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44083579 44083579 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:44083579C>T ENST00000359947.4 + 25 4708 c.4368C>T c.(4366-4368)tcC>tcT p.S1456S PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1447S|PTPRF_ENST00000372414.3_Silent_p.S1456S|PTPRF_ENST00000422171.2_Silent_p.S815S|PTPRF_ENST00000438120.1_Silent_p.S1447S NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1456 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGAGAAGTCCCGGGTGAGGC 0.632000 5 14 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 16 21 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88892695 88892695 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:88892695C>T ENST00000556553.1 + 6 955 c.396C>T c.(394-396)tcC>tcT p.S132S SPATA7_ENST00000045347.7_Silent_p.S164S|SPATA7_ENST00000356583.5_Silent_p.S132S|SPATA7_ENST00000393545.4_Silent_p.S164S Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 164 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 TACATAAATCCAGTAAAGTCA 0.468000 28 42 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17211736 17211736 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:17211736C>T ENST00000261381.6 - 11 2408 c.2324G>A c.(2323-2325)gGa>gAa p.G775E NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 775 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CACATTAGGTCCCTTCCCCCA 0.567000 26 46 0 0 1 0 0 AP1S3 130340 broad.mit.edu 37 2 224630016 224630016 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:224630016C>T ENST00000443700.1 - 4 494 c.343G>A c.(343-345)Gac>Aac p.D115N AP1S3_ENST00000446015.2_Missense_Mutation_p.D115N|AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Missense_Mutation_p.D115N Q96PC3 AP1S3_HUMAN adaptor-related protein complex 1, sigma 3 subunit 115 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat protein transporter activity NS(1)|breast(1)|lung(2) 4 Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272) Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATAAACTCGTCCAGGATGAAA 0.388000 17 27 0 0 1 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32194798 32194798 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:32194798C>T ENST00000346541.3 + 3 635 c.98C>T c.(97-99)tCg>tTg p.S33L CBFA2T2_ENST00000397800.1_Missense_Mutation_p.S4L|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.S4L|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.S24L|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.S4L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.S43L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.S33L NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 33 Pro-rich. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 ATGCCTGGATCGCCTGTGGAA 0.502000 34 58 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50125577 50125577 + RNA SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:50125577C>T ENST00000376025.2 - 0 2633 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGTAGTTGTTCATGACACATT 0.403000 11 5 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61747829 61747829 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:61747829C>T ENST00000577390.1 - 10 2524 c.1570G>A c.(1570-1572)Gat>Aat p.D524N CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Missense_Mutation_p.D524N|CDH8_ENST00000299345.6_Missense_Mutation_p.D524N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTTTGGGATCATCTTTGTCC 0.378000 34 31 0 0 1 0 0 FAM21B 55747 broad.mit.edu 37 10 47948829 47948829 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:47948829C>T ENST00000358474.5 + 29 3738 c.3738C>T c.(3736-3738)ccC>ccT p.P1246P NM_018232.1 NP_060702.1 Q5SNT6 FA21B_HUMAN family with sequence similarity 21, member B 1246 retrograde transport, endosome to Golgi early endosome membrane|WASH complex endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 TTGATGATCCCCTGAATGCCT 0.478000 20 8 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56222427 56222427 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:56222427G>A ENST00000357606.3 - 3 305 c.16C>T c.(16-18)Ccc>Tcc p.P6S DNAJC14_ENST00000317287.5_Missense_Mutation_p.P6S|DNAJC14_ENST00000317269.3_Missense_Mutation_p.P6S Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 6 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CTTTCTCCGGGGTGCTTCTGG 0.557000 24 24 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3530836 3530836 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:3530836C>T ENST00000441788.2 + 8 937 c.701C>T c.(700-702)tCc>tTc p.S234F FZR1_ENST00000313639.8_Missense_Mutation_p.S145F|FZR1_ENST00000395095.3_Missense_Mutation_p.S234F NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 234 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TCAGTGACCTCCGTGGGCTGG 0.627000 8 18 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170717 113170717 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:113170717G>A ENST00000401783.2 - 38 7499 c.7163C>T c.(7162-7164)tCc>tTc p.S2388F SVEP1_ENST00000297826.5_Missense_Mutation_p.S314F|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2365F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2388 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GACACCAAAGGAAATTAGGGG 0.458000 10 7 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228563528 228563528 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:228563528G>A ENST00000258403.3 - 3 974 c.903C>T c.(901-903)atC>atT p.I301I SLC19A3_ENST00000541617.1_Silent_p.I297I|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 301 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) AATCCCACAGGATTTGAACAT 0.438000 48 47 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032559 55032559 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:55032559G>A ENST00000417545.2 + 2 314 c.228G>A c.(226-228)caG>caA p.Q76Q NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 60 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACAATACAGCAGAGAAACC 0.458000 57 64 0 0 1 0 0 CFI 3426 broad.mit.edu 37 4 110687959 110687959 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:110687959C>T ENST00000394634.2 - 2 286 c.79G>A c.(79-81)Gat>Aat p.D27N CFI_ENST00000394635.3_Missense_Mutation_p.D27N|CFI_ENST00000512148.1_Missense_Mutation_p.D27N|CFI_ENST00000510800.1_Missense_Mutation_p.D27N NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 27 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TCCACCAGATCCTCTTGAGAT 0.393000 14 25 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24196460 24196460 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:24196460C>T ENST00000303531.7 + 14 1714 c.1562C>T c.(1561-1563)tCc>tTc p.S521F PRKCB_ENST00000321728.7_Missense_Mutation_p.S521F NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 521 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TATGGGAAGTCCGTGGATTGG 0.453000 28 54 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2996169 2996169 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:2996169C>T ENST00000331459.1 - 1 121 c.122G>A c.(121-123)gGa>gAa p.G41E NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 41 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GAGCACATTTCCCACCACCGT 0.547000 48 78 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150558071 150558071 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:150558071C>T ENST00000493429.1 + 7 2614 c.2030C>T c.(2029-2031)cCc>cTc p.P677L AOC1_ENST00000360937.4_Missense_Mutation_p.P677L|AOC1_ENST00000467291.1_Missense_Mutation_p.P677L|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.P696L amine oxidase, copper containing 1 CTGCACATCCCCCACTCAGAG 0.632000 21 111 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155242266 155242266 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:155242266C>T ENST00000357232.3 - 14 2919 c.2920G>A c.(2920-2922)Gat>Aat p.D974N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 974 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGAAGGTGATCAGATGACTTT 0.338000 5 23 0 0 1 0 0 MRPL21 219927 broad.mit.edu 37 11 68671264 68671264 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:68671264G>A ENST00000362034.2 - 1 24 c.15C>T c.(13-15)tcC>tcT p.S5S NM_181514.1|NM_181515.1 NP_852615.1|NP_852616.1 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 5 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGACCGTCAGGGAAGATGCTG 0.677000 61 68 0 0 1 0 0 IFNL2 282616 broad.mit.edu 37 19 39760185 39760185 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:39760185G>A ENST00000331982.5 + 4 383 c.328G>A c.(328-330)Gag>Aag p.E110K NM_172138.1 NP_742150.1 interferon, lambda 2 GAAGGTTCTGGAGGCCACCGC 0.642000 24 45 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113636988 113636988 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:113636988C>T ENST00000361127.4 + 5 741 c.543C>T c.(541-543)acC>acT p.T181T NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 181 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GAATAACCACCTTGGAGGCTG 0.323000 6 18 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53056775 53056775 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:53056775C>T ENST00000359798.4 + 5 786 c.606C>T c.(604-606)atC>atT p.I202I NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GGCCCCAAATCCATATTTCTA 0.368000 32 52 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85970835 85970835 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:85970835G>A ENST00000372117.3 + 13 1502 c.1399G>A c.(1399-1401)Gac>Aac p.D467N CDHR1_ENST00000332904.3_Missense_Mutation_p.D467N|CDHR1_ENST00000440770.2_Intron NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 467 Cadherin 4. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GGACACCAATGACAATGTCCC 0.577000 53 34 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2044098 2044098 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:2044098C>T ENST00000262113.4 + 18 2278 c.2137C>T c.(2137-2139)Cat>Tat p.H713Y MYOM2_ENST00000523438.1_Missense_Mutation_p.H138Y NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 713 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CGTCCCGTCCCATCCTTATGG 0.622000 55 102 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20066875 20066875 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:20066875C>T ENST00000396085.1 + 14 3922 c.3561C>T c.(3559-3561)aaC>aaT p.N1187N NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.N1139N|NAV2_ENST00000540292.1_Silent_p.N1141N|NAV2_ENST00000349880.4_Silent_p.N1187N|NAV2_ENST00000396087.3_Silent_p.N1210N|NAV2_ENST00000311043.8_Silent_p.N273N|NAV2_ENST00000533917.1_Silent_p.N273N|NAV2_ENST00000360655.4_Silent_p.N1123N NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1210 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCCGGACAAACCTTCAGTACC 0.552000 15 41 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69380954 69380954 + Nonsense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:69380954G>A ENST00000337103.4 + 3 1894 c.302G>A c.(301-303)tGg>tAg p.W101* C8orf34_ENST00000518698.1_Nonsense_Mutation_p.W212*|C8orf34_ENST00000348340.2_Nonsense_Mutation_p.W126*|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.W126* Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 126 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CATCCAAAGTGGAACTGGAGG 0.408000 8 31 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46912627 46912627 + Splice_Site SNP C C T rs143339443 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr21:46912627C>T ENST00000359759.4 + 23 3480 c.3459_splice c.e23+1 p.P1153_splice COL18A1_ENST00000400337.2_Splice_Site_p.P738_splice|COL18A1_ENST00000355480.5_Splice_Site_p.P918_splice P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1153 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CAGGCTTTCCCGTGAGTAACC 0.692000 33 66 0 0 1 0 0 STAG3 10734 broad.mit.edu 37 7 99799476 99799476 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:99799476C>T ENST00000426455.1 + 22 2695 c.2288C>T c.(2287-2289)tCa>tTa p.S763L GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.S763L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.S705L Q9UJ98 STAG3_HUMAN stromal antigen 3 763 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATTTCTAAATCAGATGCTTCC 0.448000 25 51 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 33036137 33036137 + Missense_Mutation SNP G G A rs147021005 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:33036137G>A ENST00000317907.4 + 17 2276 c.2045G>A c.(2044-2046)cGa>cAa p.R682Q NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 682 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 ATGACTGATCGAAGTGGAGAT 0.408000 28 30 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328443 61328443 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr18:61328443G>A ENST00000283752.5 - 2 151 c.8C>T c.(7-9)tCa>tTa p.S3L SERPINB3_ENST00000332821.8_Missense_Mutation_p.S3L|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 3 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TTCACTGAGTGAATTCATGGT 0.383000 34 99 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141752712 141752712 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:141752712C>T ENST00000475668.2 + 26 3141 c.3087C>T c.(3085-3087)gcC>gcT p.A1029A MGAM_ENST00000549489.2_Silent_p.A1029A O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1029 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGCCAATGCCTTCCCCTCCA 0.463000 27 55 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25773553 25773553 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:25773553G>A ENST00000377905.4 + 7 876 c.757G>A c.(757-759)Gat>Aat p.D253N SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 253 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CATTTATGATGATCCTGTGAA 0.438000 38 61 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121259890 121259890 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:121259890G>A ENST00000297848.3 + 21 2788 c.2518G>A c.(2518-2520)Gaa>Aaa p.E840K COL14A1_ENST00000309791.4_Missense_Mutation_p.E840K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E745K|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 840 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGTGTCCGAGGAATGGTATAA 0.473000 48 39 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43316307 43316307 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:43316307C>T ENST00000361428.2 - 6 2904 c.2827G>A c.(2827-2829)Gtg>Atg p.V943M ZNF318_ENST00000318149.3_Missense_Mutation_p.V943M NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 943 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) CTCACCTCCACCAAGAGAGGA 0.458000 55 72 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71095086 71095086 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:71095086G>A ENST00000283228.2 - 7 1477 c.1025C>T c.(1024-1026)tCt>tTt p.S342F PTPRR_ENST00000440835.2_Missense_Mutation_p.S97F|PTPRR_ENST00000378778.1_Missense_Mutation_p.S136F|PTPRR_ENST00000342084.4_Missense_Mutation_p.S230F|PTPRR_ENST00000549308.1_Missense_Mutation_p.S97F NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 342 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CAATGTAAGAGATACGTTGGA 0.413000 18 36 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38136476 38136476 + Missense_Mutation SNP G G A rs34290809 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:38136476G>A ENST00000308059.6 + 13 2047 c.2026G>A c.(2026-2028)Gag>Aag p.E676K DLEC1_ENST00000452631.2_Missense_Mutation_p.E676K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E676K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 676 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCCCGACAAGGAGACTGCCTT 0.552000 30 42 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70974880 70974880 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:70974880G>A ENST00000334414.6 - 10 2558 c.2514C>T c.(2512-2514)tcC>tcT p.S838S PTPRB_ENST00000551525.1_Silent_p.S837S|PTPRB_ENST00000451516.2_Silent_p.S530S|PTPRB_ENST00000538708.1_Silent_p.S620S|PTPRB_ENST00000261266.5_Silent_p.S620S|PTPRB_ENST00000550857.1_Silent_p.S530S|PTPRB_ENST00000550358.1_Silent_p.S838S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 620 Fibronectin type-III 10. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.S620S(2)|p.S838S(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTACCACCACGGAGTACAGGC 0.458000 32 85 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39904963 39904963 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:39904963G>A ENST00000564288.1 + 72 19015 c.18238G>A c.(18238-18240)Gat>Aat p.D6080N MACF1_ENST00000289893.4_Missense_Mutation_p.D4523N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6117N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4021N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4021N|MACF1_ENST00000539005.1_Missense_Mutation_p.D3891N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4021N|MACF1_ENST00000372915.3_Missense_Mutation_p.D5979N Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6088 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGATAAATTGGATCAAATGGT 0.378000 9 14 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53700370 53700370 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:53700370C>T ENST00000288139.3 + 7 1042 c.924C>T c.(922-924)atC>atT p.I308I CACNA1D_ENST00000422281.2_Silent_p.I308I|CACNA1D_ENST00000350061.5_Silent_p.I308I NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 308 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTGCAGATATCGTAGCTGAAG 0.567000 66 119 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65871563 65871563 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:65871563C>T ENST00000395325.3 + 16 2224 c.2067C>T c.(2065-2067)tcC>tcT p.S689S DNAJC6_ENST00000263441.7_Silent_p.S676S|DNAJC6_ENST00000371069.4_Silent_p.S746S NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 689 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 GTAGTTCTTCCTTTGCCAGCA 0.488000 33 53 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100334177 100334177 + RNA SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:100334177G>A ENST00000542585.1 + 0 326 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_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) GTCCGCAGACGATGAAGACTG 0.607000 91 138 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39823056 39823056 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:39823056C>T ENST00000564288.1 + 45 12211 c.11434C>T c.(11434-11436)Caa>Taa p.Q3812* MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q2252*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q3849*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q1750*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q3817*|MACF1_ENST00000476350.1_3'UTR Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3817 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCCCGTCACCAAGAATTGCT 0.468000 25 38 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010865 59010865 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:59010865G>A ENST00000263093.2 - 7 1770 c.1661C>T c.(1660-1662)aCc>aTc p.T554I SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 554 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T554I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GGACCGGAAGGTGTCCCCGAG 0.657000 29 28 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156773408 156773408 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:156773408G>A ENST00000537611.2 - 4 692 c.646C>T c.(646-648)Ctc>Ttc p.L216F NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 216 integral to membrane|plasma membrane TTTGCTTGGAGAGTTTCACCA 0.353000 7 32 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38136475 38136475 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:38136475G>A ENST00000308059.6 + 13 2046 c.2025G>A c.(2023-2025)aaG>aaA p.K675K DLEC1_ENST00000452631.2_Silent_p.K675K|DLEC1_ENST00000346219.3_Silent_p.K675K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 675 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ACCCCGACAAGGAGACTGCCT 0.547000 30 41 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216295443 216295443 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:216295443G>A ENST00000354785.4 - 5 1049 c.680C>T c.(679-681)tCt>tTt p.S227F FN1_ENST00000357867.4_Missense_Mutation_p.S227F|FN1_ENST00000346544.3_Missense_Mutation_p.S227F|FN1_ENST00000356005.4_Missense_Mutation_p.S227F|FN1_ENST00000336916.4_Missense_Mutation_p.S227F|FN1_ENST00000345488.5_Missense_Mutation_p.S227F|FN1_ENST00000426059.1_Missense_Mutation_p.S227F|FN1_ENST00000357009.2_Missense_Mutation_p.S227F|FN1_ENST00000446046.1_Missense_Mutation_p.S227F|FN1_ENST00000443816.1_Missense_Mutation_p.S227F|FN1_ENST00000432072.2_Missense_Mutation_p.S227F|FN1_ENST00000421182.1_Missense_Mutation_p.S227F|FN1_ENST00000359671.1_Missense_Mutation_p.S227F|FN1_ENST00000323926.6_Missense_Mutation_p.S227F P02751 FINC_HUMAN fibronectin 1 227 Fibrin- and heparin-binding 1.|Fibronectin type-I 4. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATACTTCTAGAAGTGCAAGT 0.438000 29 26 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097407 167097407 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:167097407G>A ENST00000361200.2 + 6 3205 c.3039G>A c.(3037-3039)agG>agA p.R1013R DUSP27_ENST00000271385.5_Silent_p.R1013R|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.R1013R Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1013 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCTCCACCAGGGAGGGCAGAG 0.557000 20 42 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95694306 95694306 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:95694306C>T ENST00000436874.1 + 12 2302 c.2197C>T c.(2197-2199)Cca>Tca p.P733S VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.P685S NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 733 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 ACAGCTGTCACCAGATTTTAC 0.537000 19 31 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24798657 24798657 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:24798657G>A ENST00000310677.4 - 10 1413 c.1300C>T c.(1300-1302)Ccc>Tcc p.P434S ADCY4_ENST00000418030.2_Missense_Mutation_p.P434S|ADCY4_ENST00000554068.2_Missense_Mutation_p.P434S|ADCY4_ENST00000396747.3_Missense_Mutation_p.P127S NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 434 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CGAAGGTAGGGGTCCCGATGC 0.637000 43 54 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158632735 158632735 + Splice_Site SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:158632735C>T ENST00000368148.3 - 17 2401 c.2220_splice c.e17-1 p.D741_splice SPTA1_ENST00000368147.3_Splice_Site_p.D741_splice NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 741 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) TCCACCTGATCCTAAGGGAGA 0.433000 9 29 0 0 1 0 0 PTGES2 80142 broad.mit.edu 37 9 130885304 130885304 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:130885304G>A ENST00000338961.6 - 5 1540 c.796C>T c.(796-798)Cgc>Tgc p.R266C PTGES2_ENST00000277462.5_Missense_Mutation_p.R75C|PTGES2_ENST00000483625.1_5'UTR NM_001256335.1|NM_025072.6 NP_001243264.1|NP_079348.1 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 266 GST C-terminal. cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 TTGCCCTCGCGGACAATGTAG 0.627000 38 22 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152226589 152226589 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:152226589C>T ENST00000447306.1 + 2 1513 c.1177C>T c.(1177-1179)Cga>Tga p.R393* PNMA3_ENST00000370265.4_Nonsense_Mutation_p.R393*|PNMA3_ENST00000370264.4_Nonsense_Mutation_p.R393* NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 393 Arg-rich. apoptosis nucleolus nucleic acid binding|zinc ion binding p.R393*(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) AGGCCAACACCGAAGGGGTGG 0.607000 27 13 0 0 1 0 0 CLCA3P 9629 broad.mit.edu 37 1 87100124 87100124 + RNA SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:87100124C>T ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA AAAACTCATTCAAAACATAAA 0.318000 8 18 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188206 37188206 + RNA SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:37188206C>T ENST00000425901.2 + 0 2048 NR_033753.2 GGGTCAGGCTCAGCATTCAAA 0.493000 31 58 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262677 140262677 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:140262677G>A ENST00000289272.2 + 1 824 c.824G>A c.(823-825)gGa>gAa p.G275E PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G275E|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTACAAATGGAGATATAGTT 0.383000 29 11 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74159195 74159195 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:74159195C>T ENST00000324896.4 + 21 2238 c.1849C>T c.(1849-1851)Ccc>Tcc p.P617S GTF2I_ENST00000416070.1_Missense_Mutation_p.P576S|GTF2I_ENST00000353920.4_Missense_Mutation_p.P597S|GTF2I_ENST00000346152.4_Missense_Mutation_p.P596S|GTF2I_ENST00000438130.2_3'UTR NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 617 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 AGAGGGGATTCCCTTCCGAAG 0.458000 13 33 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87628917 87628917 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:87628917G>A ENST00000327946.7 - 6 886 c.801C>T c.(799-801)atC>atT p.I267I NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 267 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCAGATCCAGGATCTCCGGGT 0.507000 Multiple Myeloma(13;0.14) 34 23 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47406790 47406790 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr18:47406790C>T ENST00000285039.7 - 23 3380 c.3081G>A c.(3079-3081)ttG>ttA p.L1027L MYO5B_ENST00000324581.6_Silent_p.L168L NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1027 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCTCATCTTTCAAGAGAGCAT 0.443000 32 68 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34134610 34134610 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr21:34134610G>A ENST00000331923.4 - 4 857 c.668C>T c.(667-669)gCt>gTt p.A223V PAXBP1_ENST00000290178.4_Missense_Mutation_p.A223V|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 ATGTATAAAAGCTGCATCTGG 0.393000 13 13 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56304625 56304625 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:56304625T>C ENST00000309964.4 - 21 2435 c.2185A>G c.(2185-2187)Atg>Gtg p.M729V CLOCK_ENST00000381322.1_Missense_Mutation_p.M729V|CLOCK_ENST00000513440.1_Missense_Mutation_p.M729V NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 729 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CCCATAAGCATAGTACTAGGT 0.463000 21 29 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8131142 8131142 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:8131142C>T ENST00000600128.1 - 64 8505 c.8091G>A c.(8089-8091)gtG>gtA p.V2697V FBN3_ENST00000601739.1_Silent_p.V2697V|FBN3_ENST00000270509.2_Silent_p.V2697V Q75N90 FBN3_HUMAN fibrillin 3 2697 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGCCAGGTTCACCTGGGAAG 0.652000 5 9 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71443893 71443893 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:71443893C>T ENST00000304743.2 + 6 1285 c.839C>T c.(838-840)cCg>cTg p.P280L PCNX_ENST00000238570.5_Missense_Mutation_p.P280L|PCNX_ENST00000439984.3_Missense_Mutation_p.P280L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 280 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GACCACCGGCCGCGAGGTGTA 0.483000 25 58 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55524260 55524260 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:55524260G>A ENST00000543384.1 + 7 1050 c.791G>A c.(790-792)aGg>aAg p.R264K PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000302118.5_Silent_p.E481E Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 0 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 CCCCAGATGAGGAGCTGCTGA 0.622000 28 38 0 0 1 0 0 TAS2R13 50838 broad.mit.edu 37 12 11061756 11061756 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:11061756G>A ENST00000390677.2 - 1 405 c.142C>T c.(142-144)Ctc>Ttc p.L48F PRR4_ENST00000536668.1_Intron NM_023920.2 NP_076409.1 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 48 sensory perception of taste integral to membrane taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 AAGATAATGAGGAGTTTATCG 0.393000 12 24 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3782981 3782981 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:3782981C>T ENST00000245960.5 + 11 1849 c.1152C>T c.(1150-1152)ctC>ctT p.L384L CDC25B_ENST00000344256.6_Silent_p.L320L|CDC25B_ENST00000439880.2_Silent_p.L370L|CDC25B_ENST00000379598.5_Silent_p.L293L|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Silent_p.L343L NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 384 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 TCGAGAACCTCCTGGACAGTG 0.577000 24 52 0 0 1 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42907841 42907841 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:42907841G>A ENST00000342560.5 + 6 1093 c.1005G>A c.(1003-1005)aaG>aaA p.K335K GDAP1L1_ENST00000537864.1_Silent_p.K143K NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 335 GST C-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCTGGTCAAGAGGAAACCCC 0.567000 60 84 0 0 1 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117780598 117780598 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:117780598G>A ENST00000528626.1 - 7 1000 c.927C>T c.(925-927)caC>caT p.H309H TMPRSS13_ENST00000445164.2_Silent_p.H344H|TMPRSS13_ENST00000526090.1_Silent_p.H344H|TMPRSS13_ENST00000430170.2_Silent_p.H344H|TMPRSS13_ENST00000524993.1_Silent_p.H344H NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 339 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) TGGTGCCGAAGTGCAGACTCA 0.632000 27 50 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228247952 228247952 + Missense_Mutation SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:228247952C>A ENST00000366753.2 + 5 1152 c.1105C>A c.(1105-1107)Caa>Aaa p.Q369K WNT3A_ENST00000284523.1_3'UTR P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 0 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) ACCTCATCCCCAACCCCCTGT 0.637000 46 76 8.04919e-23 8.30837e-23 1 1 0 COL4A1 1282 broad.mit.edu 37 13 110822023 110822023 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:110822023G>A ENST00000375820.4 - 43 3950 c.3829C>T c.(3829-3831)Ccc>Tcc p.P1277S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1277 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGACACCGGGTGCTCCTGGC 0.517000 49 53 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132016217 132016217 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:132016217A>G ENST00000374786.1 + 2 688 c.209A>G c.(208-210)aAc>aGc p.N70S NTM_ENST00000374791.3_Missense_Mutation_p.N70S|NTM_ENST00000539799.1_Missense_Mutation_p.N70S|NTM_ENST00000427481.2_Missense_Mutation_p.N61S|NTM_ENST00000425719.2_Missense_Mutation_p.N70S|NTM_ENST00000374784.1_Missense_Mutation_p.N70S NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 70 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 GCCTGGCTAAACCGCAGCACC 0.572000 27 42 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155746198 155746198 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:155746198G>A ENST00000437809.1 - 16 2288 c.2166C>T c.(2164-2166)acC>acT p.T722T GON4L_ENST00000271883.5_Silent_p.T722T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.T722T|GON4L_ENST00000361040.5_Silent_p.T722T Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 722 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GAAATATCCTGGTGGTAGTGG 0.423000 24 19 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 405007 405007 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:405007C>T ENST00000256509.2 + 14 2168 c.1526C>T c.(1525-1527)tCa>tTa p.S509L CHL1_ENST00000397491.2_Missense_Mutation_p.S493L NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 493 Ig-like C2-type 5. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GGGTCTTACTCATGTTGGGTA 0.408000 18 29 0 0 1 0 0 CYP2C19 1557 broad.mit.edu 37 10 96541623 96541623 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:96541623C>T ENST00000371321.3 + 5 770 c.688C>T c.(688-690)Cat>Tat p.H230Y CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 230 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity p.H230Y(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCCGGGAACCCATAACAAATT 0.303000 6 6 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273443 125273443 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:125273443C>T ENST00000335302.5 + 1 363 c.363C>T c.(361-363)gaC>gaT p.D121D NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TGGCATATGACCGATATGTTG 0.403000 27 14 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879638 3879638 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr18:3879638G>A ENST00000315677.3 - 4 1026 c.431C>T c.(430-432)tCg>tTg p.S144L DLGAP1_ENST00000584874.1_Missense_Mutation_p.S144L|DLGAP1_ENST00000515196.2_Missense_Mutation_p.S144L|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.S144L NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 144 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CTTCTGGACCGAGTGCACCAG 0.701000 57 48 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47869643 47869643 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:47869643G>A ENST00000289672.2 - 43 6603 c.6553C>T c.(6553-6555)Ctt>Ttt p.L2185F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2185 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTTACCATAAGTGGCTGGGTG 0.527000 8 17 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56019991 56019991 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:56019991G>A ENST00000303059.3 + 1 316 c.316G>A c.(316-318)Gtt>Att p.V106I NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) CTATTCTACAGTTGTCACTCC 0.373000 30 38 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871330 51871330 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:51871330C>T ENST00000371497.5 + 2 2220 c.1333C>T c.(1333-1335)Cca>Tca p.P445S TSHZ2_ENST00000603338.2_Missense_Mutation_p.P442S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P442S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 445 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) GGCTCCCAAGCCATCCAGTAA 0.468000 48 82 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81627102 81627102 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:81627102G>A ENST00000558726.1 - 21 2556 c.2421C>T c.(2419-2421)ctC>ctT p.L807L RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.L806L|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 806 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GGACCCCAGGGAGAGGTGAGC 0.557000 24 39 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136872492 136872492 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:136872492C>T ENST00000409817.1 - 1 1321 c.1018G>A c.(1018-1020)Gga>Aga p.G340R CXCR4_ENST00000241393.3_Missense_Mutation_p.G336R|CXCR4_ENST00000466288.1_5'UTR NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 336 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GATGAATGTCCACCTCGCTTT 0.423000 8 18 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35923188 35923188 + Missense_Mutation SNP T T G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:35923188T>G ENST00000490799.1 - 17 2326 c.1973A>C c.(1972-1974)gAa>gCa p.E658A SLC26A8_ENST00000355574.2_Missense_Mutation_p.E658A|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E553A NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 658 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 CACTTGGTCTTCGGATGCAGT 0.443000 80 89 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 131999021 131999021 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:131999021A>G ENST00000414305.1 + 12 1280 c.952A>G c.(952-954)Acc>Gcc p.T318A ENPP3_ENST00000357639.3_Missense_Mutation_p.T318A|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.T318A O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 318 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAGGTTTTATACCATGTATTT 0.358000 15 7 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46977981 46977981 + Missense_Mutation SNP C C A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:46977981C>A ENST00000371956.4 + 4 979 c.964C>A c.(964-966)Cag>Aag p.Q322K DMBX1_ENST00000360032.3_Missense_Mutation_p.Q317K NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 322 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GTCCTACTACCAGTCCCTGTC 0.687000 24 31 3.10358e-05 3.12525e-05 1 1 0 NCKAP5 344148 broad.mit.edu 37 2 133539624 133539624 + Missense_Mutation SNP T T A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:133539624T>A ENST00000409261.1 - 14 5133 c.4760A>T c.(4759-4761)aAt>aTt p.N1587I NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.N1587I NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1587 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGTTCTCCGATTATTTTTGCT 0.418000 40 36 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2806856 2806856 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:2806856C>T ENST00000520002.1 - 69 10925 c.10370G>A c.(10369-10371)gGa>gAa p.G3457E CSMD1_ENST00000602723.1_Missense_Mutation_p.G3280E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3280E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3457E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3279E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3456E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3457 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAAGTCTTTTCCATGAATGTC 0.343000 9 10 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46266468 46266468 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:46266468C>T ENST00000372004.3 + 13 2669 c.2453C>T c.(2452-2454)tCc>tTc p.S818F NCOA3_ENST00000371997.3_Missense_Mutation_p.S828F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S818F|NCOA3_ENST00000341724.6_Missense_Mutation_p.S828F NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 818 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AATTCCATATCCTCAAATGGT 0.343000 26 25 0 0 1 0 0 EOMES 8320 broad.mit.edu 37 3 27758960 27758960 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:27758960G>A ENST00000295743.4 - 6 1865 c.1662C>T c.(1660-1662)ccC>ccT p.P554P EOMES_ENST00000537516.1_Silent_p.P278P|EOMES_ENST00000449599.1_Silent_p.P573P O95936 EOMES_HUMAN eomesodermin 554 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ATGTCTGAAGGGGCAAGGATT 0.512000 34 47 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148800986 148800986 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:148800986G>A ENST00000378061.2 - 4 2109 c.1977C>T c.(1975-1977)gtC>gtT p.V659V NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 659 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCCCGCTGTGGACTCGAATGT 0.537000 117 101 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69656328 69656328 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:69656328C>T ENST00000435070.2 + 9 1755 c.1645C>T c.(1645-1647)Cgt>Tgt p.R549C CPSF6_ENST00000551516.1_Silent_p.I51I|CPSF6_ENST00000456847.3_Missense_Mutation_p.R476C|CPSF6_ENST00000266679.8_Missense_Mutation_p.R586C NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 549 Arg-rich.|Sufficient for nuclear targeting. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding p.R549C(2) endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) gcgCGAATATCGTCATCGTTA 0.468000 16 9 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15507985 15507985 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:15507985G>A ENST00000397410.4 - 12 1576 c.1512C>T c.(1510-1512)acC>acT p.T504T AKAP8L_ENST00000595465.1_Silent_p.T443T NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 504 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGTGATCCATGGTCTTCAGAT 0.552000 47 93 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3189513 3189513 + Missense_Mutation SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:3189513A>G ENST00000355072.5 + 39 5270 c.5125A>G c.(5125-5127)Aca>Gca p.T1709A NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1709 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AATCTCCTGTACAGTAATTAA 0.383000 30 37 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156788492 156788492 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:156788492C>T ENST00000347377.6 + 26 3356 c.2925C>T c.(2923-2925)ttC>ttT p.F975F CYFIP2_ENST00000522463.1_Silent_p.F779F|CYFIP2_ENST00000377576.3_Silent_p.F975F|CYFIP2_ENST00000435847.2_Silent_p.F674F|CYFIP2_ENST00000318218.6_Silent_p.F1000F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000521420.1_Silent_p.F949F|CYFIP2_ENST00000541131.1_Silent_p.F900F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1000 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAGTTCTTCCACCACCAGC 0.547000 18 14 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19319186 19319186 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:19319186G>A ENST00000461366.1 + 14 1809 c.1594G>A c.(1594-1596)Gcc>Acc p.A532T NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 532 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GCAGGCCACGGCCAAGGCCTT 0.642000 7 22 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592916 158592916 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:158592916C>T ENST00000368148.3 - 43 6157 c.5977G>A c.(5977-5979)Gac>Aac p.D1993N SPTA1_ENST00000368147.3_Missense_Mutation_p.D1990N|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1993 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) ATCAGTTTGTCCTTCAGGTCA 0.517000 112 225 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234355425 234355425 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:234355425T>C ENST00000264057.2 + 12 1414 c.1402T>C c.(1402-1404)Ttc>Ctc p.F468L DGKD_ENST00000409813.3_Missense_Mutation_p.F424L NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 468 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CACCGAAGACTTCAGCGAGGA 0.587000 55 49 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112654962 112654962 + Missense_Mutation SNP G G C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:112654962G>C ENST00000550722.1 - 46 7069 c.6674C>G c.(6673-6675)cCg>cGg p.P2225R HECTD4_ENST00000377560.5_Missense_Mutation_p.P2199R|HECTD4_ENST00000430131.2_Missense_Mutation_p.P1949R NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCGAACAGGCGGAAACACTCG 0.532000 7 26 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44837467 44837467 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr21:44837467G>A ENST00000270162.6 - 13 2064 c.1932C>T c.(1930-1932)agC>agT p.S644S NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 644 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 AGCCCTCCCGGCTGCCGGCTG 0.751000 6 11 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101053472 101053472 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:101053472G>A ENST00000369162.2 - 33 5493 c.5149C>T c.(5149-5151)Ctt>Ttt p.L1717F NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1717 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GGTTCATAAAGAAATTTTTTA 0.338000 18 7 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 407674 407674 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:407674C>T ENST00000256509.2 + 15 2269 c.1627C>T c.(1627-1629)Ccc>Tcc p.P543S CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.P527S NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 527 Ig-like C2-type 6. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TCCTCGTATCCCCAAATTGCA 0.343000 7 28 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138433971 138433971 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:138433971G>A ENST00000310018.2 - 12 1403 c.1121C>T c.(1120-1122)gCt>gTt p.A374V ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A374V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A374V NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 374 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTGGAAGCCAGCTGTGAATTT 0.478000 28 102 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228495135 228495135 + Silent SNP G G C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:228495135G>C ENST00000570156.2 + 57 15314 c.15240G>C c.(15238-15240)acG>acC p.T5080T OBSCN_ENST00000284548.11_Silent_p.T4123T|OBSCN_ENST00000422127.1_Silent_p.T4123T|OBSCN_ENST00000366709.4_Silent_p.T1242T|OBSCN_ENST00000366707.4_Silent_p.T1757T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4123 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGGGGCCACGCGGGAGCTGC 0.657000 8 12 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169763260 169763260 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:169763260C>T ENST00000375363.3 + 4 619 c.527C>T c.(526-528)cCt>cTt p.P176L G6PC2_ENST00000429379.2_Intron|G6PC2_ENST00000461586.1_Intron|G6PC2_ENST00000421979.1_Intron|SPC25_ENST00000472216.2_Intron NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 176 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 ACACATTTTCCTCATCAAGTT 0.363000 15 44 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38318096 38318096 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr22:38318096C>T ENST00000215957.6 + 6 813 c.687C>T c.(685-687)acC>acT p.T229T NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 229 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GGTCGGGGACCAGGCCTGGGC 0.647000 23 51 0 0 1 0 0 CPNE2 221184 broad.mit.edu 37 16 57159853 57159853 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:57159853G>A ENST00000535318.2 + 12 1370 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000565874.1_Missense_Mutation_p.E337K|CPNE2_ENST00000537605.1_Missense_Mutation_p.E235K|CPNE2_ENST00000290776.8_Missense_Mutation_p.E337K Q96FN4 CPNE2_HUMAN copine II 337 VWFA. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) GGGCACCAACGAATATCTGTC 0.522000 18 45 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114389001 114389001 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:114389001C>T ENST00000343508.3 - 2 194 c.24G>A c.(22-24)tgG>tgA p.W8* CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron NM_198124.1 NP_937757.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 47 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTACAGGTTTCCAGCAAAGGA 0.552000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 107 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7348293 7348293 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:7348293C>T ENST00000486284.1 + 4 1261 c.987C>T c.(985-987)atC>atT p.I329I GRM7_ENST00000403881.1_Silent_p.I329I|GRM7_ENST00000389336.4_Silent_p.I329I|GRM7_ENST00000357716.4_Silent_p.I329I|GRM7_ENST00000402647.2_Silent_p.I329I NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 329 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) ATGAAGATATCGCAGAAGGGG 0.517000 23 47 0 0 1 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179290935 179290935 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:179290935G>A ENST00000356834.3 - 22 3303 c.3266C>T c.(3265-3267)cCc>cTc p.P1089L TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.P230L|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.P1072L|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.P248L NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1089 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGCAGTTCGGGTGCTGGTGG 0.647000 37 84 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967744 81967744 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:81967744C>T ENST00000282701.2 + 2 1489 c.1169C>T c.(1168-1170)tCc>tTc p.S390F NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 390 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TGGATTATCTCCCCCAAGTCC 0.463000 50 82 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37232880 37232880 + Silent SNP A A G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:37232880A>G ENST00000233099.5 - 30 4895 c.4800T>C c.(4798-4800)tgT>tgC p.C1600C HEATR5B_ENST00000354531.2_Silent_p.C1600C NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1600 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GTCTAGGGGAACAAAGAAACT 0.393000 13 37 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934707 113934707 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:113934707C>T ENST00000335953.4 + 2 1065 c.685C>T c.(685-687)Ctg>Ttg p.L229L ZBTB16_ENST00000392996.2_Silent_p.L229L NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 229 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GGAGCCAACTCTGGCTGGGGG 0.637000 15 31 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150348705 150348705 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:150348705C>T ENST00000218316.3 + 2 719 c.650C>T c.(649-651)gCg>gTg p.A217V NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 217 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) AAAGTGCTGGCGGCCCGTGAC 0.527000 62 16 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47343129 47343129 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:47343129G>A ENST00000398879.1 - 22 3242 c.2876C>T c.(2875-2877)tCc>tTc p.S959F TNS3_ENST00000355730.3_Missense_Mutation_p.S719F|TNS3_ENST00000311160.9_Missense_Mutation_p.S959F Q68CZ2 TENS3_HUMAN tensin 3 959 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CCCCAGCAGGGAAACCATGGG 0.612000 7 13 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98986517 98986517 + Missense_Mutation SNP C C T rs149069990 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:98986517C>T ENST00000393504.1 + 2 496 c.79C>T c.(79-81)Cgc>Tgc p.R27C CNGA3_ENST00000436404.2_Missense_Mutation_p.R27C|CNGA3_ENST00000272602.2_Missense_Mutation_p.R27C NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 27 signal transduction|visual perception integral to membrane cGMP binding p.R27C(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 AGATCTCAATCGCGCTGAAAA 0.502000 9 27 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100490867 100490867 + Silent SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:100490867G>T ENST00000302913.4 - 2 1125 c.987C>A c.(985-987)tcC>tcA p.S329S ACHE_ENST00000412389.1_Silent_p.S329S|ACHE_ENST00000241069.5_Silent_p.S329S|ACHE_ENST00000419336.2_Silent_p.S329S|ACHE_ENST00000428317.1_Silent_p.S329S|ACHE_ENST00000411582.1_Silent_p.S329S NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 329 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CAGGCACGAAGGAGAACCGGA 0.592000 18 38 6.94344e-10 7.0659e-10 1 1 0 PHKB 5257 broad.mit.edu 37 16 47730390 47730390 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:47730390C>T ENST00000455779.1 + 30 3158 c.2973C>T c.(2971-2973)atC>atT p.I991I PHKB_ENST00000323584.5_Silent_p.I998I|PHKB_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000299167.8_Silent_p.I998I Q93100 KPBB_HUMAN phosphorylase kinase, beta 998 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) ACAGACAGATCGTTGTAGAGG 0.423000 35 26 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70346524 70346524 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:70346524C>T ENST00000305107.6 - 6 1461 c.1415G>A c.(1414-1416)gGa>gAa p.G472E UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G336E NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 472 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 GTGCTTGGCTCCTTTATGGCG 0.483000 66 125 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555140 44555140 + Silent SNP G G A rs146322216 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr18:44555140G>A ENST00000330682.2 - 1 1309 c.1074C>T c.(1072-1074)gtC>gtT p.V358V KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 358 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CCGAGTAGGGGACCCCTTCCA 0.637000 40 801 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220422584 220422584 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:220422584G>A ENST00000404537.1 - 11 3807 c.3751C>T c.(3751-3753)Ccc>Tcc p.P1251S OBSL1_ENST00000265317.5_Missense_Mutation_p.P242S|OBSL1_ENST00000603926.1_Missense_Mutation_p.P1251S|OBSL1_ENST00000373876.1_Missense_Mutation_p.P1251S|OBSL1_ENST00000265318.4_Missense_Mutation_p.P1159S NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1251 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GGGGCTCCGGGGGCTGCTCCA 0.662000 43 32 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102855 22102855 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:22102855G>A ENST00000542433.1 - 1 241 c.144C>T c.(142-144)ctC>ctT p.L48L NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TGAGCAGAATGAGCAGGTTCC 0.512000 32 50 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115222915 115222915 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:115222915C>T ENST00000369538.3 - 5 866 c.819G>A c.(817-819)atG>atA p.M273I AMPD1_ENST00000520113.2_Missense_Mutation_p.M277I|AMPD1_ENST00000353928.6_Missense_Mutation_p.M244I NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 244 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GTAAAAAATTCATATCGTCTA 0.398000 19 48 0 0 1 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363122 22363122 + RNA SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:22363122G>A ENST00000390438.2 + 0 381 TTTTGAGGCTGAATTTAAGAA 0.507000 43 69 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10673682 10673682 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:10673682C>T ENST00000423302.2 - 2 264 c.115G>A c.(115-117)Gag>Aag p.E39K MRVI1_ENST00000421747.1_Missense_Mutation_p.E30K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E39K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000436272.1_Missense_Mutation_p.E30K|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.E30K|MRVI1_ENST00000552103.1_5'UTR NM_001206880.1|NM_130385.3 NP_001193809.1|NP_569056.4 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 30 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CCCGGAACCTCCGCTGCGTCA 0.652000 7 22 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57428975 57428975 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:57428975C>T ENST00000371100.4 + 1 1207 c.655C>T c.(655-657)Ccc>Tcc p.P219S GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Silent_p.L155L|GNAS_ENST00000371102.4_Missense_Mutation_p.P219S|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P219S|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTACAGCCCTCCCCCTGAGGA 0.647000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 13 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27455482 27455482 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:27455482C>T ENST00000264705.4 + 18 2974 c.2812C>T c.(2812-2814)Ctt>Ttt p.L938F CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Missense_Mutation_p.L875F NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 938 CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGTCCTAGTCCTTGGCTCTGG 0.512000 22 76 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43750374 43750374 + Missense_Mutation SNP A A T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:43750374A>T ENST00000389420.3 - 38 5555 c.5556T>A c.(5554-5556)aaT>aaA p.N1852K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1852 GON. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCCTGACAAATTAATGCTAA 0.393000 6 8 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77830494 77830494 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:77830494C>T ENST00000354212.4 - 11 2317 c.2064G>A c.(2062-2064)tgG>tgA p.W688* MAGI2_ENST00000522391.1_Nonsense_Mutation_p.W688*|MAGI2_ENST00000419488.1_Nonsense_Mutation_p.W688* NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 688 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TTGGAGTTTTCCATGGAGAAA 0.303000 6 12 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6913720 6913720 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:6913720C>T ENST00000312053.4 + 11 1216 c.1179C>T c.(1177-1179)ttC>ttT p.F393F EMR1_ENST00000381407.5_Silent_p.F252F|EMR1_ENST00000250572.8_Silent_p.F393F|EMR1_ENST00000450315.3_Silent_p.F216F|EMR1_ENST00000381404.4_Silent_p.F341F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 393 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GGACTAAATTCACCAAGGAAG 0.458000 40 61 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124297969 124297969 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:124297969C>T ENST00000409039.3 + 19 3074 c.3049C>T c.(3049-3051)Cct>Tct p.P1017S NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1017 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAAGAAACCTCCTTGTGTAGC 0.398000 29 65 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436023 72436023 + Silent SNP C C T rs145119311 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:72436023C>T ENST00000392627.1 + 2 1369 c.243C>T c.(241-243)aaC>aaT p.N81N GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Silent_p.N81N|GPRC5C_ENST00000392629.2_Silent_p.N48N NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 36 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 AAGGCCTCAACCCCCTGTACT 0.647000 37 47 0 0 1 0 0 SLC47A2 146802 broad.mit.edu 37 17 19619821 19619821 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:19619821G>A ENST00000350657.5 - 1 222 c.48C>T c.(46-48)tgC>tgT p.C16C SLC47A2_ENST00000325411.5_Silent_p.C16C|SLC47A2_ENST00000463318.1_Intron NM_001099646.1|NM_001256663.1 NP_001093116.1|NP_001243592.1 Q86VL8 S47A2_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 2 16 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) TGAGGGCAGGGCAGCAGCCCC 0.662000 9 19 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380872 124380872 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:124380872G>A ENST00000338354.3 + 41 5303 c.5197G>A c.(5197-5199)Gaa>Aaa p.E1733K DMBT1_ENST00000368955.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1733K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1105K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1105K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1723K Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1733 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.E1733K(1)|p.E1862K(1) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGCCATCACGAAGACGCTGG 0.557000 42 36 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82433875 82433875 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:82433875G>A ENST00000370728.1 + 16 3148 c.2503G>A c.(2503-2505)Gaa>Aaa p.E835K LPHN2_ENST00000370721.1_Missense_Mutation_p.E760K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E822K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E822K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E835K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E822K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E835K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E835K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E835K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E822K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E822K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.E835K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E822K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E835K O95490 LPHN2_HUMAN latrophilin 2 835 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GGCCCACAGGGAAATTGCAGT 0.428000 16 45 0 0 1 0 0 ZBTB1 22890 broad.mit.edu 37 14 64989987 64989987 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:64989987C>T ENST00000358738.3 + 2 2156 c.1765C>T c.(1765-1767)Cag>Tag p.Q589* ZBTB1_ENST00000554015.1_Nonsense_Mutation_p.Q589*|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Nonsense_Mutation_p.Q589* NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AGGATTTTATCAGCGGTGTCA 0.368000 28 38 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167270 140167270 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:140167270G>A ENST00000504120.2 + 1 1395 c.1395G>A c.(1393-1395)aaG>aaA p.K465K PCDHA1_ENST00000378133.3_Silent_p.K465K|PCDHA1_ENST00000394633.3_Silent_p.K465K NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTCGTGAAGGAGAACAACC 0.667000 44 41 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215792296 215792296 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:215792296C>T ENST00000259154.4 + 16 1925 c.1631C>T c.(1630-1632)tCc>tTc p.S544F KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 544 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TGTGAGGGATCCAGTAGGATG 0.453000 23 45 0 0 1 0 0 VWC2L 402117 broad.mit.edu 37 2 215279277 215279277 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:215279277G>A ENST00000312504.5 + 2 1162 c.360G>A c.(358-360)ggG>ggA p.G120G AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Silent_p.G120G|AC107218.3_ENST00000412896.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 120 VWFC 2. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 AATATCACGGGAAAAATTACA 0.358000 12 12 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50678773 50678773 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr22:50678773C>T ENST00000439308.2 - 2 1257 c.765G>A c.(763-765)tgG>tgA p.W255* TUBGCP6_ENST00000248846.5_Nonsense_Mutation_p.W255* NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 255 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTTCGTCTTCCCACTGATCCA 0.562000 16 26 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409012 56409012 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:56409012C>T ENST00000544374.1 - 1 935 c.907G>A c.(907-909)Gat>Aat p.D303N OR5AP2_ENST00000302981.1_Missense_Mutation_p.D302N Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TTTTTTACATCCTTATTTTTT 0.343000 10 16 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596727 39596727 + Silent SNP G G A rs142182718 byFrequency TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:39596727G>A ENST00000246646.3 - 1 446 c.447C>T c.(445-447)ccC>ccT p.P149P NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 149 Linker 1.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) ACTGGTAGTCGGGGCACACGG 0.602000 36 79 0 0 1 0 0 DEK 7913 broad.mit.edu 37 6 18237645 18237645 + Missense_Mutation SNP T T C TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:18237645T>C ENST00000397239.3 - 8 1312 c.865A>G c.(865-867)Acc>Gcc p.T289A DEK_ENST00000244776.7_Missense_Mutation_p.T255A NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 289 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) TTCTTGGTGGTGCTGCTATCT 0.303000 T NUP214 AML 11 20 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169277 138169277 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:138169277G>A ENST00000409968.1 + 14 2972 c.2794G>A c.(2794-2796)Gga>Aga p.G932R THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G901R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G932R thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCAACCTTATGGAAACTGGTC 0.478000 26 99 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870822 51870822 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:51870822G>A ENST00000371497.5 + 2 1712 c.825G>A c.(823-825)ctG>ctA p.L275L TSHZ2_ENST00000603338.2_Silent_p.L272L|TSHZ2_ENST00000329613.6_Silent_p.L272L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 275 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) AAAAGGTTCTGAAATGTATGT 0.438000 21 22 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881715 38881715 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:38881715G>A ENST00000274276.3 + 4 669 c.267G>A c.(265-267)gtG>gtA p.V89V OSMR_ENST00000502536.1_Silent_p.V89V NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 89 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GCACCACTGTGAAGTGGAACC 0.433000 19 49 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444183 15444183 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:15444183G>A ENST00000295297.4 + 3 910 c.651G>A c.(649-651)ctG>ctA p.L217L C1QTNF7_ENST00000429690.1_Silent_p.L210L|C1QTNF7_ENST00000444304.2_Silent_p.L210L NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 210 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CAATCGGACTGGTACACAATG 0.473000 38 95 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331787 107331787 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr9:107331787G>A ENST00000335040.1 + 1 339 c.339G>A c.(337-339)atG>atA p.M113I NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 113 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 CGGAGTGCATGATCTTAGGCA 0.502000 32 16 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173942751 173942751 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:173942751G>A ENST00000506823.1 + 12 2270 c.1613G>A c.(1612-1614)gGg>gAg p.G538E GALNTL6_ENST00000508122.1_Missense_Mutation_p.G521E NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 538 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GGCATGAAGGGGAACCAGCTC 0.463000 42 79 0 0 1 0 0 TMEM132C 92293 broad.mit.edu 37 12 128899602 128899602 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:128899602G>A ENST00000435159.2 + 2 411 c.411G>A c.(409-411)cgG>cgA p.R137R NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 137 integral to membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 ACATCCTGCGGGACAAAGTCT 0.502000 8 7 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9771274 9771274 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:9771274G>A ENST00000383832.3 + 21 1750 c.1560G>A c.(1558-1560)gaG>gaA p.E520E NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 520 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) TGCTGGCCGAGATCCCGGAGC 0.642000 34 52 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32878609 32878609 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr20:32878609G>A ENST00000538132.1 - 6 996 c.610C>T c.(610-612)Ctg>Ttg p.L204L AHCY_ENST00000217426.2_Silent_p.L232L NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 232 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 AAACCCCGCAGGGCCTGGGCA 0.602000 45 70 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96512932 96512932 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:96512932C>T ENST00000283109.3 - 4 454 c.386G>A c.(385-387)aGa>aAa p.R129K CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.R129K NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 129 ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) AAACGAGGTTCTTCCTAGTCT 0.338000 11 22 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1871973 1871973 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:1871973C>T ENST00000518288.1 + 22 2656 c.2493C>T c.(2491-2493)ttC>ttT p.F831F ARHGEF10_ENST00000520359.1_Silent_p.F769F|ARHGEF10_ENST00000262112.6_Silent_p.F832F|ARHGEF10_ENST00000398564.1_Silent_p.F832F|ARHGEF10_ENST00000349830.3_Silent_p.F807F O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 832 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) CAGCTGTGTTCAATACGTTCA 0.502000 28 57 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32811801 32811801 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr13:32811801C>T ENST00000380250.3 + 44 6592 c.6096C>T c.(6094-6096)tcC>tcT p.S2032S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2032 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CGGACCCATCCCACATAAACC 0.498000 7 22 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130760960 130760960 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:130760960G>A ENST00000276708.4 - 14 2195 c.1314C>T c.(1312-1314)ttC>ttT p.F438F NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 438 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 AGGGGTATCTGAAGTTTGGCT 0.532000 42 41 0 0 1 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212532071 212532071 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:212532071G>A ENST00000261461.2 + 12 1844 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K PPP2R5A_ENST00000537030.3_Missense_Mutation_p.E367K NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 424 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) AACCCTAATGGAAATGAATGG 0.348000 13 22 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138656046 138656046 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:138656046C>T ENST00000251691.4 + 33 6229 c.6063C>T c.(6061-6063)acC>acT p.T2021T NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 2021 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CCGACAAGACCATTTCAAAGT 0.527000 5 1 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 39910123 39910123 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr15:39910123C>T ENST00000350221.3 - 11 1721 c.1512G>A c.(1510-1512)atG>atA p.M504I NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 504 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) GAAGGCATTTCATATTCTCTG 0.398000 29 14 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32259423 32259423 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:32259423G>A ENST00000360482.2 - 12 2588 c.2459C>T c.(2458-2460)gCc>gTc p.A820V SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.A313V|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A820V NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 820 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TTGGCTTAGGGCTTTCTGGAA 0.582000 71 134 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176308764 176308764 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:176308764G>A ENST00000292432.5 - 17 2413 c.2322C>T c.(2320-2322)ttC>ttT p.F774F NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 774 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGGCCCCGGAAGAGAACGC 0.537000 44 84 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38638424 38638424 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:38638424G>A ENST00000254051.6 - 8 1787 c.1629C>T c.(1627-1629)atC>atT p.I543I NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 543 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CCAGGGCCATGATGGAATGCT 0.587000 27 33 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167129193 167129193 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:167129193C>T ENST00000303354.6 - 17 3410 c.3070G>A c.(3070-3072)Gag>Aag p.E1024K SCN9A_ENST00000375387.4_Missense_Mutation_p.E1024K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1012K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1023K Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1023 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGTCTTATCTCCCTGGAAATC 0.328000 9 13 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132409815 132409815 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr5:132409815G>A ENST00000304858.2 + 6 949 c.660G>A c.(658-660)ctG>ctA p.L220L NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 220 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGGAAAACTGAAAGTAAGTA 0.318000 13 7 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155239594 155239594 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chrX:155239594C>T ENST00000424344.3 + 10 1390 c.1023C>T c.(1021-1023)ggC>ggT p.G341G IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Silent_p.G362G|IL9R_ENST00000540897.1_3'UTR Q01113 IL9R_HUMAN interleukin 9 receptor 362 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCACTTGTGGCCCAGCGCGTC 0.672000 34 40 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102587058 102587058 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:102587058C>T ENST00000236826.3 - 6 975 c.877G>A c.(877-879)Gga>Aga p.G293R NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 293 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGTATTTCTCCACGGAGTGTG 0.388000 25 43 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187172799 187172799 + Nonsense_Mutation SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:187172799G>T ENST00000264690.6 + 9 1214 c.1027G>T c.(1027-1029)Gag>Tag p.E343* KLKB1_ENST00000513864.1_Nonsense_Mutation_p.E343* NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 343 Apple 4. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CTGTAAGGAAGAGAAGTAAAG 0.363000 10 32 2.17888e-05 2.19792e-05 1 1 0 ADAM20 8748 broad.mit.edu 37 14 70989510 70989510 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:70989510G>A ENST00000256389.3 - 2 2359 c.2115C>T c.(2113-2115)aaC>aaT p.N705N RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 655 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CCCATTCATGGTTGCAGTGAC 0.483000 71 134 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945504 53945504 + RNA SNP C C T rs12983857 by1000genomes TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:53945504C>T ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AGAGGTGGCTCGTAAGTTGGT 0.483000 4 41 0 0 1 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206582 142206582 + RNA SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:142206582C>T ENST00000426318.2 - 0 323 GGGGGAAATTCTCTGTCTTGG 0.527000 33 125 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30748499 30748499 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr16:30748499C>T ENST00000262518.4 + 34 7523 c.7138C>T c.(7138-7140)Cgg>Tgg p.R2380W SRCAP_ENST00000344771.4_Missense_Mutation_p.R2222W|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2318W NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2380 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.R2380W(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGGCACCCACCGGCGCAGTAA 0.652000 32 44 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39439544 39439544 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:39439544G>A ENST00000257408.4 + 3 1631 c.1534G>A c.(1534-1536)Gag>Aag p.E512K NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 512 carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TTCTTTAAAAGAGTCCACGCC 0.398000 10 33 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622398 41622398 + Silent SNP G G T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr19:41622398G>T ENST00000331105.2 + 3 282 c.210G>T c.(208-210)ctG>ctT p.L70L NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 70 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CAGTGCACCTGGGACCCAGGC 0.617000 40 78 2.40579e-17 2.47441e-17 1 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54871252 54871252 + Missense_Mutation SNP G G A rs41277453 TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:54871252G>A ENST00000474759.1 + 15 1513 c.1465G>A c.(1465-1467)Gaa>Aaa p.E489K CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E395K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E489K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E489K NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 489 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TAAGCAGAACGAAACCGTGAG 0.517000 33 94 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95029946 95029946 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr14:95029946G>A ENST00000557004.1 + 2 548 c.127G>A c.(127-129)Ggt>Agt p.G43S SERPINA4_ENST00000555095.1_Missense_Mutation_p.G43S|SERPINA4_ENST00000298841.5_Missense_Mutation_p.G43S|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 43 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TCTGGAGACAGGTGAGGGCTC 0.567000 45 53 0 0 1 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709534 31709534 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr21:31709534G>A ENST00000382835.2 - 1 478 c.453C>T c.(451-453)ttC>ttT p.F151F NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 151 intermediate filament p.F151F(2) endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 CCAGAGTTTCGAAATTTTTAG 0.493000 64 98 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505203 195505203 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:195505203G>A ENST00000463781.3 - 3 13373 c.12914C>T c.(12913-12915)gCt>gTt p.A4305V MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.A69V|MUC4_ENST00000475231.1_Missense_Mutation_p.A4305V NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1062 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GATGGGGGCAGCTGTGGAGCG 0.597000 31 42 0 0 1 0 0 EIF3E 3646 broad.mit.edu 37 8 109229661 109229661 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:109229661G>A ENST00000220849.5 - 8 813 c.751C>T c.(751-753)Cca>Tca p.P251S EIF3E_ENST00000519030.1_Missense_Mutation_p.P158S|EIF3E_ENST00000519517.1_5'UTR NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 251 negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) AGAATGTGTGGACACATTGTC 0.343000 4 11 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98928328 98928328 + Nonsense_Mutation SNP A A T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:98928328A>T ENST00000477737.1 + 27 3772 c.3568A>T c.(3568-3570)Aaa>Taa p.K1190* VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1190 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTGGCCACTGAAAGAAGCGGA 0.592000 7 10 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237758892 237758892 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr1:237758892G>A ENST00000366574.2 + 34 4848 c.4531G>A c.(4531-4533)Gtg>Atg p.V1511M RYR2_ENST00000542537.1_Missense_Mutation_p.V1495M|RYR2_ENST00000360064.6_Missense_Mutation_p.V1509M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1511 4 X approximate repeats.|B30.2/SPRY 3. 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) TGGCTGTGTGGTGGATGCTGC 0.517000 18 34 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32956214 32956214 + Silent SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:32956214C>T ENST00000321639.5 + 5 1387 c.1059C>T c.(1057-1059)ccC>ccT p.P353P NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 353 integral to membrane p.P353P(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CCATCCTGCCCCTGGCCATGG 0.577000 14 34 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10322317 10322317 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:10322317G>A ENST00000403437.2 - 4 335 c.241C>T c.(241-243)Cct>Tct p.P81S CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 81 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GGGTTCATAGGGAAGACTTGG 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 34 50 0 0 1 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828174 94828174 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:94828174C>T ENST00000285949.5 + 6 1289 c.1289C>T c.(1288-1290)cCa>cTa p.P430L NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 430 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GGCTTCGATCCAGAGCGCTTC 0.682000 21 15 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76903013 76903013 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:76903013G>A ENST00000285871.4 + 10 1303 c.1176G>A c.(1174-1176)atG>atA p.M392I CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000415740.2_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 392 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) ATTTCCAGATGGAAGCTATCC 0.408000 18 33 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139635980 139635980 + Missense_Mutation SNP C C G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:139635980C>G ENST00000303045.6 - 52 4212 c.3766G>C c.(3766-3768)Gag>Cag p.E1256Q COL22A1_ENST00000435777.1_Missense_Mutation_p.E1236Q|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1256 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTTACCGGCTCTCCAGGGGGA 0.443000 HNSCC(7;0.00092) 68 212 0 0 1 0 0 BIRC3 330 broad.mit.edu 37 11 102195542 102195542 + Missense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr11:102195542C>T ENST00000263464.3 + 2 3052 c.302C>T c.(301-303)tCc>tTc p.S101F BIRC3_ENST00000532808.1_Missense_Mutation_p.S101F NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 101 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) AGTCTAAATTCCGTTAACAAC 0.413000 T MALT1 MALT 34 82 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76789152 76789152 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr10:76789152G>A ENST00000287239.4 + 18 5059 c.4570G>A c.(4570-4572)Gat>Aat p.D1524N KAT6B_ENST00000372725.1_Missense_Mutation_p.D1232N|KAT6B_ENST00000372711.1_Missense_Mutation_p.D1341N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1232N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1232N NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1524 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CAAGGAAGTCGATACAGAGTT 0.552000 33 19 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2275003 2275003 + Silent SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:2275003G>A ENST00000242257.8 - 3 523 c.495C>T c.(493-495)ctC>ctT p.L165L FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Silent_p.L71L NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 165 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TGTCATGATCGAGGTCCCGGA 0.577000 21 45 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177069291 177069291 + Nonsense_Mutation SNP C C T TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr4:177069291C>T ENST00000393643.2 + 13 1954 c.1702C>T c.(1702-1704)Cga>Tga p.R568* WDR17_ENST00000280190.4_Nonsense_Mutation_p.R592*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.R568*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.R575* NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 592 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) CAGTACCGTTCGAATCTGGGA 0.323000 21 31 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233274325 233274325 + Missense_Mutation SNP G G A TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr2:233274325G>A ENST00000295453.3 + 11 1394 c.1342G>A c.(1342-1344)Gga>Aga p.G448R NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 448 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GCCCCTGGACGGAGAGACCCA 0.637000 34 23 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701310 195701311 + RNA INS - - AA TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr3:195701310_195701311insAA ENST00000427841.1 - 0 1513_1514 NR_003264.2 CATGCCTGACCAGACAACCAGG 0.574 7 61 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 7 152 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103205777 103205777 + Frame_Shift_Del DEL C C - TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr7:103205777delC ENST00000428762.1 - 34 5317 c.5158delG c.(5158-5160)aafs p.E1720fs RELN_ENST00000424685.2_Frame_Shift_Del_p.E1720fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E1720fs NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1720 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGGAATCTTTCCGAGGTGTAA 0.468 19 46 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522386 144522387 + In_Frame_Ins INS - - GAG rs35759992 byFrequency TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr8:144522386_144522387insGAG ENST00000262577.5 - 11 2670_2671 c.2639_2640insCTC c.(2638-2640)ttc>tCTCtc p.880_880F>SL NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 880 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CGggaggggatgaggaggagga 0.649 7 24 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132445250 132445251 + Frame_Shift_Ins INS - - G TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr12:132445250_132445251insG ENST00000333577.4 + 2 195_196 c.86_87insG c.(85-87)cgcfs p.R29fs EP400_ENST00000389562.2_Frame_Shift_Ins_p.R29fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.R29fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.R29fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.R29fs Q96L91 EP400_HUMAN E1A binding protein p400 29 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAGGAGCAGCCGGCCCACCCCA 0.653 2 4 --- --- --- --- SLC35B1 10237 broad.mit.edu 37 17 47782504 47782506 + In_Frame_Del DEL GCC GCC - TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr17:47782504_47782506delGCC ENST00000240333.6 - 5 629_631 c.508_510delGGC c.(508-510)del p.G170del SLC35B1_ENST00000415270.2_In_Frame_Del_p.G207del P78383 S35B1_HUMAN solute carrier family 35, member B1 170 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 GCTCTCCATAGCCGACTGTGTGT 0.493 24 76 --- --- --- --- NRIP1 8204 broad.mit.edu 37 21 16337660 16337660 + Frame_Shift_Del DEL G G - TCGA-EB-A3XF-01A-31D-A23B-08 TCGA-EB-A3XF-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 44f65d92-3e20-4028-8695-9bb3bdbe5a89 9635878b-a30e-4308-844c-57a521d8b766 g.chr21:16337660delG ENST00000400202.1 - 3 3566 c.2854delC c.(2854-2856)acfs p.H952fs NRIP1_ENST00000400199.1_Frame_Shift_Del_p.H952fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.H952fs P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 952 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TTACTTCTGTGCGGGGACAAA 0.418 27 65 --- --- --- ---