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 SP140 11262 broad.mit.edu 37 2 231159004 231159004 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:231159004C>T ENST00000392045.3 + 21 2101 c.1987C>T c.(1987-1989)Cct>Tct p.P663S SP140_ENST00000350136.5_Missense_Mutation_p.P532S|SP140_ENST00000486687.2_Missense_Mutation_p.P587S|SP140_ENST00000417495.3_Missense_Mutation_p.P549S|SP140_ENST00000343805.6_Missense_Mutation_p.P603S|SP140_ENST00000420434.3_Missense_Mutation_p.P636S NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 663 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P663S(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCTGCCTGATCCTCCAAGAAT 0.363000 7 89 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32050096 32050096 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:32050096C>G ENST00000375244.3 - 9 3654 c.3453G>C c.(3451-3453)caG>caC p.Q1151H TNXB_ENST00000375247.2_Missense_Mutation_p.Q1151H P22105 TENX_HUMAN tenascin XB 1238 Fibronectin type-III 4. 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 TTGGGTCACTCTGAGGCACTA 0.572000 9 94 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1437283 1437283 + Missense_Mutation SNP G G A rs139292269 byFrequency TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:1437283G>A ENST00000345913.4 + 4 344 c.253G>A c.(253-255)Gga>Aga p.G85R TPO_ENST00000349624.3_Missense_Mutation_p.G85R|TPO_ENST00000382201.3_Missense_Mutation_p.G85R|TPO_ENST00000382269.3_Missense_Mutation_p.G85R|TPO_ENST00000539820.1_Missense_Mutation_p.G85R|TPO_ENST00000337415.3_Missense_Mutation_p.G85R|TPO_ENST00000346956.3_Missense_Mutation_p.G85R|TPO_ENST00000382198.1_Missense_Mutation_p.G85R|TPO_ENST00000329066.4_Missense_Mutation_p.G85R|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 85 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) GCCAACAAGCGGAGTGATTGC 0.408000 12 89 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234457817 234457817 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:234457817C>G ENST00000251722.6 - 8 1013 c.896G>C c.(895-897)gGt>gCt p.G299A USP40_ENST00000427112.2_Missense_Mutation_p.G299A|USP40_ENST00000450966.1_Missense_Mutation_p.G311A Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 299 CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLG N -> FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQP LSSVFR (in Ref. 4; AAH67300). 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) GTAGCAGCCACCTTTGTGTAT 0.303000 3 22 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100366335 100366335 + RNA SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:100366335C>T ENST00000542585.1 + 0 5292 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_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) CCTGAATCCTCTGAACCTGGG 0.622000 3 13 0 0 1 0 0 XIAP 331 broad.mit.edu 37 X 123019598 123019598 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:123019598G>C ENST00000371199.3 + 2 385 c.86G>C c.(85-87)aGa>aCa p.R29T XIAP_ENST00000434753.3_Missense_Mutation_p.R29T|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.R29T NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis 29 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 GAGTTTAATAGATTAAAAACT 0.368000 X-linked Lymphoproliferative syndrome 42 139 0 0 1 0 0 PNMA1 9240 broad.mit.edu 37 14 74180338 74180338 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:74180338G>A ENST00000316836.3 - 1 790 c.5C>T c.(4-6)gCg>gTg p.A2V NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 2 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) cagtgtcatcgccattttctc 0.522000 4 106 0 0 1 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93389933 93389933 + Nonsense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr10:93389933G>T ENST00000238994.5 - 2 789 c.705C>A c.(703-705)tgC>tgA p.C235* NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 235 CBM21.|Interaction with EPM2A. protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) GGTAAGAAATGCAGAACTCAA 0.408000 21 85 4.35082e-09 4.63281e-09 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21268505 21268505 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:21268505G>T ENST00000602326.1 - 12 1575 c.992C>A c.(991-993)cCt>cAt p.P331H EIF4G3_ENST00000374937.3_Missense_Mutation_p.P331H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P325H|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P325H|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P336H|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P325H NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 325 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGTTGGTAAAGGGTCTGATGT 0.383000 22 280 1.9806e-07 2.08325e-07 1 1 0 SLC44A2 57153 broad.mit.edu 37 19 10747142 10747142 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:10747142C>T ENST00000586078.1 + 15 1486 c.1377C>T c.(1375-1377)ttC>ttT p.F459F SLC44A2_ENST00000335757.5_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 459 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TGGCCAACTTCGTGCTGGCGC 0.647000 25 129 0 0 1 0 0 ECHDC2 55268 broad.mit.edu 37 1 53362207 53362207 + Silent SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:53362207T>C ENST00000536120.1 - 13 1543 c.726A>G c.(724-726)aaA>aaG p.K242K ECHDC2_ENST00000371522.4_Silent_p.K288K|ECHDC2_ENST00000358358.5_Silent_p.K257K Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 288 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 TGCCAACAAATTTGGGAGTCC 0.502000 4 139 0 0 1 0 0 FOCAD 54914 broad.mit.edu 37 9 20986313 20986313 + Silent SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:20986313C>G ENST00000380249.1 + 42 5119 c.4755C>G c.(4753-4755)gtC>gtG p.V1585V FOCAD_ENST00000605086.1_Silent_p.V1021V|FOCAD_ENST00000338382.6_Silent_p.V1585V NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1585 integral to membrane binding CTGCCTTTGTCAAACTGTACT 0.413000 9 113 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141643780 141643780 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:141643780G>A ENST00000389484.3 - 24 4862 c.3891C>T c.(3889-3891)ttC>ttT p.F1297F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1297 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) AACTTTGATTGAAGTGAAAAT 0.333000 TSP Lung(27;0.18) 7 70 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237796974 237796974 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:237796974C>T ENST00000366574.2 + 43 6969 c.6652C>T c.(6652-6654)Ctc>Ttc p.L2218F RYR2_ENST00000542537.1_Missense_Mutation_p.L2202F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2216F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2218 4 X approximate repeats. 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) GTTTGATCATCTCAGTTATTT 0.338000 6 106 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74492437 74492437 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:74492437G>A ENST00000437994.2 + 18 2495 c.2064G>A c.(2062-2064)aaG>aaA p.K688K CD109_ENST00000422508.2_Silent_p.K611K|CD109_ENST00000287097.5_Silent_p.K688K NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 688 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATGTCCGAAAGCATTTTCCAG 0.348000 80 68 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123724 12123724 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:12123724C>G ENST00000379388.2 + 4 4028 c.3696C>G c.(3694-3696)atC>atG p.I1232M NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1232 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGCACAACATCCAAGTTCCAG 0.493000 6 57 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937219 33937219 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:33937219C>T ENST00000330120.3 + 1 729 c.374C>T c.(373-375)gCg>gTg p.A125V NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 125 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 ACCAACCTGGCGCTGACGGAC 0.582000 15 141 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116943570 116943570 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:116943570G>C ENST00000537345.1 + 19 3023 c.2660G>C c.(2659-2661)cGa>cCa p.R887P ATP1A1_ENST00000369496.4_Missense_Mutation_p.R856P|ATP1A1_ENST00000295598.5_Missense_Mutation_p.R887P NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 887 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TTGGGCCTCCGAGTGGACTGG 0.552000 15 60 0 0 1 0 0 TFAP2E 339488 broad.mit.edu 37 1 36054038 36054038 + Missense_Mutation SNP C C T rs148010311 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:36054038C>T ENST00000373235.3 + 4 878 c.670C>T c.(670-672)Cgg>Tgg p.R224W NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 224 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CGTGCCCGGCCGGCTTTCACT 0.647000 9 179 0 0 1 0 0 PHC2 1912 broad.mit.edu 37 1 33837995 33837995 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:33837995C>T ENST00000257118.5 - 2 281 c.228G>A c.(226-228)caG>caA p.Q76Q PHC2_ENST00000419414.2_Silent_p.Q76Q|PHC2_ENST00000431992.1_Silent_p.Q76Q|PHC2_ENST00000373416.1_5'UTR NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 76 Gln-rich. multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CGTACATCTGCTGCAGGTACT 0.672000 6 26 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25936334 25936334 + Nonsense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:25936334C>G ENST00000398988.3 + 18 2304 c.1859C>G c.(1858-1860)tCa>tGa p.S620* KSR1_ENST00000319524.6_Nonsense_Mutation_p.S757*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.S735*|KSR1_ENST00000268763.6_Nonsense_Mutation_p.S620* NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 755 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TTTGGGATCTCAGGCGTGGTC 0.542000 19 195 0 0 1 0 0 HDX 139324 broad.mit.edu 37 X 83724155 83724155 + Silent SNP G G A rs149996033 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:83724155G>A ENST00000297977.5 - 3 687 c.576C>T c.(574-576)caC>caT p.H192H HDX_ENST00000373177.2_Silent_p.H192H|HDX_ENST00000506585.2_Silent_p.H134H NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 192 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTTTCTTTGCGTGATTGAATA 0.388000 31 163 0 0 1 0 0 FBXO33 254170 broad.mit.edu 37 14 39871066 39871066 + Splice_Site SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:39871066C>T ENST00000298097.7 - 3 1048 c.e3-1 FBXO33_ENST00000554190.1_Intron NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) TTGCTGAATTCTATAAGGAAA 0.368000 17 78 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131646 130131646 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:130131646G>C ENST00000525842.1 - 2 490 c.123C>G c.(121-123)atC>atG p.I41M ZBTB44_ENST00000530205.1_Missense_Mutation_p.I41M|ZBTB44_ENST00000397753.1_Missense_Mutation_p.I41M|ZBTB44_ENST00000357899.4_Missense_Mutation_p.I41M NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 41 BTB. 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) GTGCCCGGAAGATTTTGTCCT 0.453000 4 182 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278688 36278688 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:36278688G>A ENST00000007510.4 + 21 3365 c.3221G>A c.(3220-3222)gGc>gAc p.G1074D ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G913D|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G910D O14559 RHG33_HUMAN Rho GTPase activating protein 33 1074 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 AGCTCTCTGGGCCCCCCTGCA 0.662000 8 69 0 0 1 0 0 GPR160 26996 broad.mit.edu 37 3 169802120 169802120 + Silent SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:169802120T>C ENST00000355897.5 + 4 968 c.360T>C c.(358-360)taT>taC p.Y120Y NM_014373.2 NP_055188.1 Q9UJ42 GP160_HUMAN G protein-coupled receptor 160 120 integral to membrane|plasma membrane G-protein coupled receptor activity p.Y120*(1) breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GTATAGATTATTGCCTGAATT 0.294000 14 140 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94834728 94834728 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr10:94834728G>A ENST00000371531.1 + 3 778 c.400G>A c.(400-402)Gac>Aac p.D134N CYP26A1_ENST00000224356.4_Missense_Mutation_p.D203N|CYP26A1_ENST00000394139.1_Missense_Mutation_p.D134N NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 203 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) ACTGGCGGGCGACGGGGACTC 0.657000 15 83 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97851780 97851780 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:97851780G>A ENST00000447648.2 - 22 3281 c.2982C>T c.(2980-2982)atC>atT p.I994I TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.I996I Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 994 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGCAGGCCCCGATGGAGATGG 0.711000 5 9 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183909041 183909041 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:183909041G>T ENST00000429586.2 + 16 1752 c.1567G>T c.(1567-1569)Gtg>Ttg p.V523L ABCF3_ENST00000292808.5_Missense_Mutation_p.V517L|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 523 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCGCATCTGTGTGGTAAGGCT 0.537000 23 273 3.83957e-06 4.00197e-06 1 1 0 FXR1 8087 broad.mit.edu 37 3 180669130 180669130 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:180669130G>A ENST00000357559.4 + 8 1059 c.675G>A c.(673-675)gtG>gtA p.V225V FXR1_ENST00000491062.1_Silent_p.V176V|FXR1_ENST00000480918.1_Silent_p.V212V|FXR1_ENST00000445140.2_Silent_p.V225V|FXR1_ENST00000305586.7_Silent_p.V140V|FXR1_ENST00000468861.1_Silent_p.V140V NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 225 KH 1. apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AATTTGTTGTGAGAGAAGATT 0.363000 11 126 0 0 1 0 0 LYPLA2 11313 broad.mit.edu 37 1 24119250 24119250 + Splice_Site SNP G G A rs2232978 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:24119250G>A ENST00000374514.3 + 2 385 c.78_splice c.e2+1 p.A26_splice LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374503.3_Splice_Site_p.A26_splice|LYPLA2_ENST00000400061.1_Splice_Site_p.A26_splice|LYPLA2_ENST00000374502.3_Splice_Site_p.A26_splice|LYPLA2_ENST00000374505.2_Splice_Site_p.A26_splice NM_007260.2 NP_009191.1 O95372 LYPA2_HUMAN lysophospholipase II 26 fatty acid metabolic process cytoplasm hydrolase activity p.A26A(1) endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) AAACGGCCGCGGTAAGGGTCC 0.642000 17 142 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 116 0 0 1 0 0 SUV420H2 84787 broad.mit.edu 37 19 55858809 55858809 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:55858809G>A ENST00000255613.3 + 9 1629 c.1381G>A c.(1381-1383)Gag>Aag p.E461K NM_032701.3 NP_116090.2 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 (Drosophila) 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CGGCGGTGAAGAGCTGTGACA 0.672000 5 20 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356397 55356397 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:55356397C>T ENST00000524622.1 - 7 1532 c.871G>A c.(871-873)Gag>Aag p.E291K TESPA1_ENST00000316577.8_Missense_Mutation_p.E429K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E291K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E291K|TESPA1_ENST00000449076.1_Missense_Mutation_p.E429K NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 429 CAGAAAGTCTCATCCTTGGCT 0.507000 32 164 0 0 1 0 0 DAP3 7818 broad.mit.edu 37 1 155699069 155699069 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:155699069C>A ENST00000368336.5 + 9 879 c.755C>A c.(754-756)tCt>tAt p.S252Y DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000343043.3_Missense_Mutation_p.S252Y|DAP3_ENST00000421487.2_Missense_Mutation_p.S218Y|DAP3_ENST00000535183.1_Missense_Mutation_p.S211Y|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 252 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGGCAAAGTTCTTTGGGTATG 0.473000 28 132 1.55811e-20 1.7011e-20 1 1 0 TMEM38A 79041 broad.mit.edu 37 19 16799014 16799014 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:16799014C>G ENST00000187762.2 + 6 823 c.732C>G c.(730-732)atC>atG p.I244M NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 244 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 AGGGCTACATCTGCCCCGTGC 0.632000 42 335 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67986121 67986121 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:67986121C>A ENST00000422611.2 - 6 928 c.889G>T c.(889-891)Ggc>Tgc p.G297C SLC12A4_ENST00000541864.2_Missense_Mutation_p.G264C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G289C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G295C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G295C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G247C|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G295C NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 295 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GACTTTATGCCCCCAGCATAG 0.498000 9 53 3.09899e-07 3.2497e-07 1 1 0 MIR493 574450 broad.mit.edu 37 14 101335439 101335439 + RNA SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:101335439G>A ENST00000385254.1 + 0 43 NR_030172.1 tcattcattcgtttgcacatt 0.587000 10 56 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160245892 160245892 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:160245892C>G ENST00000392783.2 - 21 3675 c.3180G>C c.(3178-3180)aaG>aaC p.K1060N AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K1024N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.K960N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K1026N NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1060 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CATTAGGCTTCTTTAGTTCCT 0.338000 31 186 0 0 1 0 0 LMBRD1 55788 broad.mit.edu 37 6 70428941 70428941 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:70428941C>T ENST00000370577.3 - 8 898 c.669G>A c.(667-669)ctG>ctA p.L223L LMBRD1_ENST00000370570.1_Silent_p.L150L NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 223 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TGCCTTTTATCAGATTTAAAG 0.313000 10 63 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15937233 15937233 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:15937233C>A ENST00000504595.1 + 4 1895 c.1414C>A c.(1414-1416)Cgc>Agc p.R472S FBXL7_ENST00000329673.7_Missense_Mutation_p.R460S|FBXL7_ENST00000510662.1_Missense_Mutation_p.R425S NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 472 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GGAGGCCCTGCGCTTTGTCAA 0.592000 9 26 1.12685e-05 1.17097e-05 1 1 0 MED1 5469 broad.mit.edu 37 17 37566455 37566455 + Silent SNP G G A rs148664556 byFrequency TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:37566455G>A ENST00000300651.6 - 17 2242 c.2019C>T c.(2017-2019)tcC>tcT p.S673S MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 673 Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR. S -> F (in Ref. 9; AAC41736). androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGGGTGAGCCGGAAGAGGAGT 0.473000 HNSCC(31;0.082) 24 134 0 0 1 0 0 GPR52 9293 broad.mit.edu 37 1 174417406 174417406 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:174417406C>G ENST00000367685.2 + 1 195 c.157C>G c.(157-159)Ctg>Gtg p.L53V RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 53 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 GCTGACATTTCTGATCATTGC 0.443000 9 115 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145580332 145580332 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:145580332G>A ENST00000331890.5 - 6 985 c.921C>T c.(919-921)acC>acT p.T307T FBXL6_ENST00000455319.2_Silent_p.T301T|FBXL6_ENST00000526524.1_5'UTR NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 307 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GGTTGATGCCGGTGCTCACCT 0.657000 42 71 0 0 1 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448589 142448589 + RNA SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:142448589C>T ENST00000422143.2 + 0 250 TGACACTGATCGCAACTGCAA 0.507000 7 51 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86887271 86887271 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:86887271G>A ENST00000373119.4 + 7 1531 c.1386G>A c.(1384-1386)atG>atA p.M462I KLHL4_ENST00000373114.4_Missense_Mutation_p.M462I NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 462 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TTGGCACCATGAATGGCCGTA 0.393000 10 71 0 0 1 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160274813 160274813 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr4:160274813G>A ENST00000264431.4 + 22 4202 c.3783G>A c.(3781-3783)caG>caA p.Q1261Q NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1261 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) ATAATATACAGACGATCCAGC 0.527000 43 69 0 0 1 0 0 CFC1 55997 broad.mit.edu 37 2 131356270 131356270 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:131356270G>A ENST00000259216.4 - 3 454 c.192C>T c.(190-192)agC>agT p.S64S NM_032545.3 NP_115934.1 P0CG37 CFC1_HUMAN cripto, FRL-1, cryptic family 1 64 determination of left/right symmetry|gastrulation anchored to membrane|extracellular region|plasma membrane endometrium(1)|lung(4) 5 Colorectal(110;0.1) AGCCCTCGGCGCTCCCAGTCA 0.622000 10 180 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18487234 18487234 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:18487234C>T ENST00000280706.2 + 3 1092 c.295C>T c.(295-297)Cgc>Tgc p.R99C LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R99C NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 99 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) AGCAGGTGCACGCCAGAAAAA 0.388000 16 99 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72425055 72425055 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:72425055G>A ENST00000333850.3 + 10 1323 c.1182G>A c.(1180-1182)aaG>aaA p.K394K NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 394 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TTTCTGACAAGGCATGTGTGA 0.413000 16 133 0 0 1 0 0 NT5DC1 221294 broad.mit.edu 37 6 116422175 116422175 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:116422175G>C ENST00000319550.4 + 1 164 c.82G>C c.(82-84)Gag>Cag p.E28Q NM_152729.2 NP_689942.2 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase domain containing 1 28 hydrolase activity|metal ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1) 8 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) CAACCTGCCCGAGAGCGCCCC 0.692000 5 34 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72410572 72410572 + Silent SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:72410572A>G ENST00000359373.5 - 17 3179 c.2328T>C c.(2326-2328)ctT>ctC p.L776L ARAP1_ENST00000455638.2_Silent_p.L776L|ARAP1_ENST00000393609.3_Silent_p.L776L|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Silent_p.L470L|ARAP1_ENST00000426523.1_Silent_p.L531L|ARAP1_ENST00000393605.3_Silent_p.L536L|ARAP1_ENST00000334211.8_Silent_p.L531L Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 776 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCCCGTCACCAAGGACACACC 0.632000 9 28 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46305857 46305857 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:46305857C>T ENST00000359930.4 - 9 2066 c.1215G>A c.(1213-1215)atG>atA p.M405I SULF2_ENST00000467815.1_Missense_Mutation_p.M405I|SULF2_ENST00000484875.1_Missense_Mutation_p.M405I|SULF2_ENST00000361612.4_Missense_Mutation_p.M405I NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 405 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 GCCAGACCCTCATCTTCTTTT 0.617000 18 90 0 0 1 0 0 NR2E1 7101 broad.mit.edu 37 6 108497868 108497868 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:108497868G>A ENST00000368986.4 + 4 1129 c.421G>A c.(421-423)Ggc>Agc p.G141S NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.G178S NM_003269.3 NP_003260.1 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 141 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GGAGCCGCACGGCCTGGAGCT 0.716000 3 10 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134129581 134129581 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:134129581C>T ENST00000281182.4 + 6 753 c.647C>T c.(646-648)tCa>tTa p.S216L ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.S89L|ACAD8_ENST00000537423.1_Missense_Mutation_p.S139L|ACAD8_ENST00000543332.1_Missense_Mutation_p.S118L NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 216 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) AAGGGCATCTCATGCATAGTT 0.532000 21 106 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31731763 31731763 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:31731763C>T ENST00000266269.5 - 3 2051 c.1422G>A c.(1420-1422)ggG>ggA p.G474G PATZ1_ENST00000405309.3_Silent_p.G474G|PATZ1_ENST00000351933.4_Silent_p.G474G|RP3-400N23.6_ENST00000451161.1_RNA|RP3-400N23.6_ENST00000440456.1_RNA NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 474 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 GCAAGTACTTCCCACACACCT 0.567000 7 107 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18688178 18688178 + Missense_Mutation SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:18688178A>G ENST00000406451.3 + 11 1480 c.1330A>G c.(1330-1332)Aga>Gga p.R444G HDAC9_ENST00000441542.2_Missense_Mutation_p.R447G|HDAC9_ENST00000406072.1_Missense_Mutation_p.R431G|HDAC9_ENST00000524023.1_Missense_Mutation_p.R367G|HDAC9_ENST00000432645.2_Missense_Mutation_p.R444G|HDAC9_ENST00000405010.3_Missense_Mutation_p.R444G|HDAC9_ENST00000401921.1_Missense_Mutation_p.R403G|HDAC9_ENST00000417496.2_Missense_Mutation_p.R442G|HDAC9_ENST00000456174.2_Missense_Mutation_p.R416G|HDAC9_ENST00000428307.2_Missense_Mutation_p.R400G NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 444 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCCCCGTCACAGACCCCTGAA 0.498000 14 83 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138739189 138739189 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:138739189C>T ENST00000329447.5 - 1 579 c.315G>A c.(313-315)ctG>ctA p.L105L MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 105 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 CGACGGAGCTCAGGAGGACCT 0.652000 8 80 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039231 11039231 + RNA SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr21:11039231A>G ENST00000470054.1 - 0 972 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTTTGGATACCACTGTTTT 0.408000 11 504 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129148458 129148458 + Silent SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:129148458C>A ENST00000540052.1 + 3 1754 c.1710C>A c.(1708-1710)gcC>gcA p.A570A BCORL1_ENST00000359304.2_Silent_p.A570A|BCORL1_ENST00000218147.7_Silent_p.A570A|BCORL1_ENST00000303743.5_Silent_p.A570A NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 570 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TGCTGCCAGCCCCCAGTGGGA 0.617000 24 83 1.10513e-12 1.18776e-12 1 1 0 ATP2C2 9914 broad.mit.edu 37 16 84472848 84472848 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:84472848G>A ENST00000416219.2 + 12 1152 c.1063G>A c.(1063-1065)Gcc>Acc p.A355T ATP2C2_ENST00000262429.4_Missense_Mutation_p.A355T|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 355 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCTGCGGATGGCCAAGAAGCG 0.567000 17 88 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40161822 40161822 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:40161822C>T ENST00000373233.3 - 3 598 c.421G>A c.(421-423)Gag>Aag p.E141K CHD6_ENST00000309279.7_Missense_Mutation_p.E141K|CHD6_ENST00000373222.3_Missense_Mutation_p.E176K NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 141 Lys-rich. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCCTTGTGCTCCTTGGCCTTC 0.572000 9 330 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 109 0 0 1 0 0 PKIG 11142 broad.mit.edu 37 20 43243305 43243305 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:43243305G>A ENST00000372889.1 + 5 693 c.108G>A c.(106-108)agG>agA p.R36R PKIG_ENST00000372887.1_Silent_p.R36R|PKIG_ENST00000372882.3_Silent_p.R36R|PKIG_ENST00000372891.3_Silent_p.R36R|PKIG_ENST00000349959.3_Silent_p.R36R|PKIG_ENST00000372894.3_Silent_p.R36R|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372892.3_Silent_p.R36R|PKIG_ENST00000372886.1_Silent_p.R36R|PKIG_ENST00000477390.1_3'UTR Q9Y2B9 IPKG_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor gamma 36 cAMP-dependent protein kinase inhibitor activity|protein binding breast(1)|urinary_tract(1) 2 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189) TGAGCGTGAGGAAGCTGGCTG 0.642000 10 61 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541039 28541039 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:28541039C>T ENST00000452236.2 - 4 3244 c.2627G>A c.(2626-2628)cGa>cAa p.R876Q NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 876 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ctgaatacgtcgagctatggt 0.383000 28 151 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83712013 83712013 + Silent SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:83712013G>T ENST00000566620.1 + 10 1775 c.1485G>T c.(1483-1485)gtG>gtT p.V495V CDH13_ENST00000268613.10_Silent_p.V542V|CDH13_ENST00000428848.3_Silent_p.V456V NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 495 Cadherin 4. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGGGCAGCGTGCTGCTGACAG 0.617000 10 52 2.17888e-05 2.2574e-05 1 1 0 SEZ6L 23544 broad.mit.edu 37 22 26688618 26688618 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:26688618C>A ENST00000529632.2 + 2 537 c.341C>A c.(340-342)cCc>cAc p.P114H SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P114H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P114H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P114H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P114H|SEZ6L_ENST00000403121.1_5'UTR NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 114 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CACGCCTTGCCCCCCAAGAAG 0.652000 5 21 0.014758 0.014758 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40433288 40433288 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:40433288C>T ENST00000221347.6 - 2 988 c.981G>A c.(979-981)gtG>gtA p.V327V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 327 IgGFc-binding. 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) GGTCATAAGTCACTTCATTCC 0.567000 9 64 0 0 1 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950497 2950497 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:2950497G>A ENST00000314222.4 - 1 188 c.98C>T c.(97-99)tCc>tTc p.S33F NM_003311.3 NP_003302.1 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain, family A, member 2 33 PH. apoptosis cytoplasm|membrane central_nervous_system(1) 1 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCGGTCGGAGGTGAGCAC 0.667000 6 21 0 0 1 0 0 PLAA 9373 broad.mit.edu 37 9 26910414 26910414 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:26910414C>T ENST00000397292.3 - 12 1996 c.1579G>A c.(1579-1581)Gca>Aca p.A527T PLAA_ENST00000520884.1_Missense_Mutation_p.A527T NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 527 phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GTTTTAGATGCAGCTGATCGG 0.303000 10 134 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30704565 30704565 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:30704565C>G ENST00000256246.2 - 1 2043 c.1969G>C c.(1969-1971)Gaa>Caa p.E657Q NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 657 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGAAATGATTCTTGTGATTTA 0.284000 4 65 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858590 149858590 + Silent SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:149858590T>A ENST00000331380.2 + 1 66 c.66T>A c.(64-66)gcT>gcA p.A22A NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 22 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGTCCCGCGCTGGCCTCCAGT 0.657000 41 137 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26508294 26508294 + Missense_Mutation SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:26508294A>G ENST00000244513.6 + 6 952 c.886A>G c.(886-888)Aaa>Gaa p.K296E NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 296 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TGCAGAATGGAAAAAGGCTAC 0.403000 16 157 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72038709 72038709 + Missense_Mutation SNP T T G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:72038709T>G ENST00000378743.3 - 4 1585 c.1227A>C c.(1225-1227)caA>caC p.Q409H NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 409 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTTAACTTTTTGCTGTACAG 0.323000 44 70 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55260487 55260487 + Nonsense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:55260487C>G ENST00000275493.2 + 22 2831 c.2654C>G c.(2653-2655)tCa>tGa p.S885* EGFR_ENST00000455089.1_Nonsense_Mutation_p.S840*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.S832* NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 885 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GCATTGGAATCAATTTTACAC 0.438000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 9 76 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111689164 111689164 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:111689164C>T ENST00000435970.1 - 16 6409 c.5593G>A c.(5593-5595)Gac>Aac p.D1865N REV3L_ENST00000368805.1_Missense_Mutation_p.D1943N|REV3L_ENST00000358835.3_Missense_Mutation_p.D1943N|REV3L_ENST00000368802.3_Missense_Mutation_p.D1943N O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1943 Mediates interaction with MAD2L2. DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAGGAAAAGTCTCCCTCAAAC 0.458000 DNA polymerases (catalytic subunits) 15 75 0 0 1 0 0 CMC4 100272147 broad.mit.edu 37 X 154290185 154290185 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:154290185G>T ENST00000369484.3 - 3 818 c.140C>A c.(139-141)tCt>tAt p.S47Y CMC4_ENST00000369479.1_Missense_Mutation_p.S47Y NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 ACAGACGACAGATCTTCCCTT 0.443000 23 145 5.35356e-11 5.7182e-11 1 1 0 SACS 26278 broad.mit.edu 37 13 23911462 23911462 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:23911462T>C ENST00000382298.3 - 10 7141 c.6553A>G c.(6553-6555)Agt>Ggt p.S2185G SACS_ENST00000382292.3_Missense_Mutation_p.S2185G|SACS_ENST00000402364.1_Missense_Mutation_p.S1435G NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2185 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAGATACTACTTCTTAGGCAT 0.358000 12 108 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2203590 2203590 + Nonsense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:2203590G>A ENST00000544865.1 - 2 874 c.364C>T c.(364-366)Cag>Tag p.Q122* SMG6_ENST00000263073.5_Nonsense_Mutation_p.Q153* Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 153 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTAACAGTCTGCAAACGTCGT 0.468000 5 237 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25191214 25191214 + Splice_Site SNP C C G rs140021144 byFrequency TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:25191214C>G ENST00000409280.1 - 7 993 c.e7+1 C7orf31_ENST00000283905.3_Splice_Site Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 AAGATACTTACATCATAATAT 0.323000 5 43 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39530996 39530996 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:39530996C>T ENST00000537403.1 - 9 2074 c.872G>A c.(871-873)cGc>cAc p.R291H SEC23A_ENST00000545328.2_Missense_Mutation_p.R464H|SEC23A_ENST00000307712.6_Missense_Mutation_p.R493H|SEC23A_ENST00000536508.1_Missense_Mutation_p.R367H Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 493 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) CACTCGGATGCGTCTCTGCCC 0.418000 16 84 0 0 1 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19277939 19277939 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:19277939C>T ENST00000454498.2 - 7 2057 c.1044G>A c.(1042-1044)aaG>aaA p.K348K CSGALNACT1_ENST00000311540.4_Silent_p.K348K|CSGALNACT1_ENST00000544602.1_Silent_p.K348K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.K348K|CSGALNACT1_ENST00000522854.1_Silent_p.K348K NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 348 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) CGTTGCTTCCCTTCCAGAAGC 0.468000 28 93 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33292114 33292114 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:33292114C>G ENST00000280979.4 + 13 5265 c.5095C>G c.(5095-5097)Ctt>Gtt p.L1699V AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1699 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CGAGCTCTCTCTTTGCTCAGA 0.463000 17 121 0 0 1 0 0 LDOC1L 84247 broad.mit.edu 37 22 44893383 44893383 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:44893383C>T ENST00000341255.3 - 2 563 c.54G>A c.(52-54)ccG>ccA p.P18P NM_032287.2 NP_115663.2 Q6ICC9 LDOCL_HUMAN leucine zipper, down-regulated in cancer 1-like 18 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2) 11 Ovarian(80;0.024)|all_neural(38;0.0416) LUAD - Lung adenocarcinoma(64;0.0161) TCTGGGCATTCGGAGACGCTG 0.642000 7 53 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115219972 115219972 + Splice_Site SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:115219972T>C ENST00000369538.3 - 9 1522 c.1475_splice c.e9+1 p.Y492_splice AMPD1_ENST00000353928.6_Splice_Site_p.Y463_splice|AMPD1_ENST00000520113.2_Splice_Site_p.Y496_splice NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 463 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) AGGTACATACTAGATCCTGGG 0.507000 17 58 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105238729 105238729 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:105238729G>A ENST00000554581.1 - 11 2713 c.1233C>T c.(1231-1233)atC>atT p.I411I AKT1_ENST00000407796.2_Silent_p.I411I|AKT1_ENST00000554192.1_Silent_p.I98I|AKT1_ENST00000402615.2_Silent_p.I411I|AKT1_ENST00000349310.3_Silent_p.I411I|AKT1_ENST00000544168.1_Silent_p.I349I|AKT1_ENST00000555458.1_Silent_p.I106I|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000555528.1_Silent_p.I411I|AKT1_ENST00000554848.1_Silent_p.I411I P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 411 AGC-kinase C-terminal. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GCTGCCACACGATACCGGCAA 0.617000 1 Mis """breast, colorectal, ovarian, NSCLC""" 21 139 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233482347 233482347 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:233482347C>G ENST00000366624.3 + 2 1226 c.965C>G c.(964-966)tCt>tGt p.S322C MLK4_ENST00000366623.3_Missense_Mutation_p.S322C NM_032435.2 NP_115811.2 TCCTTGTTTTCTAAGGGAAGC 0.478000 6 56 0 0 1 0 0 NUDC 10726 broad.mit.edu 37 1 27269257 27269257 + Missense_Mutation SNP C C T rs146502618 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:27269257C>T ENST00000321265.5 + 5 659 c.536C>T c.(535-537)tCg>tTg p.S179L NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 179 CS. cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) CAGACCCTGTCGGAGCTGGAC 0.577000 4 66 0 0 1 0 0 NUDT18 79873 broad.mit.edu 37 8 21965084 21965084 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:21965084G>A ENST00000309188.6 - 5 817 c.699C>T c.(697-699)gcC>gcT p.A233A NUDT18_ENST00000522405.1_Silent_p.A156A|NUDT18_ENST00000521807.2_3'UTR NM_024815.3 NP_079091.3 Q6ZVK8 NUD18_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 18 233 hydrolase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|lung(2) 4 Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986) GCCGCAGGACGGCCATCTTCA 0.607000 36 49 0 0 1 0 0 OR10V1 390201 broad.mit.edu 37 11 59481275 59481275 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:59481275C>T ENST00000307552.2 - 1 62 c.44G>A c.(43-45)cGt>cAt p.R15H STX3_ENST00000300150.7_Intron NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 TGAGAATGGACGAAAGAAAAA 0.438000 35 30 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47372995 47372995 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:47372995G>A ENST00000399249.2 - 2 141 c.87C>T c.(85-87)ttC>ttT p.F29F MYBPC3_ENST00000545968.1_Silent_p.F29F|MYBPC3_ENST00000256993.4_Silent_p.F29F Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 29 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) TCTCGGCCTCGAACACGGCAG 0.652000 4 18 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45765859 45765859 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:45765859G>A ENST00000357450.4 - 15 2394 c.2395C>T c.(2395-2397)Cgg>Tgg p.R799W SMC1B_ENST00000404354.3_Missense_Mutation_p.R799W NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 799 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCTTGTTGCCGTTTAACATGT 0.264000 7 158 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32692772 32692772 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:32692772G>A ENST00000421745.2 + 27 5670 c.5536G>A c.(5536-5538)Gac>Aac p.D1846N NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1846 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AATTCTTCATGACTTAATACC 0.383000 7 33 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119738445 119738445 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:119738445C>G ENST00000313400.4 - 9 1799 c.1699G>C c.(1699-1701)Gag>Cag p.E567Q ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E567Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.E516Q O75129 ASTN2_HUMAN astrotactin 2 567 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TAGCCCCTCTCAAGTGTCGTG 0.498000 15 36 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36367847 36367847 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:36367847C>T ENST00000373204.4 + 11 1519 c.1306C>T c.(1306-1308)Cgg>Tgg p.R436W AGO1_ENST00000373206.1_Missense_Mutation_p.R361W NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 CTGGGACATGCGGGGGAAACA 0.572000 5 234 0 0 1 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833210 27833210 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:27833210C>T ENST00000357320.2 + 1 177 c.78C>T c.(76-78)ttC>ttT p.F26F NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 26 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 GTCTCCAGTTCCCCGTGGGCC 0.657000 20 126 0 0 1 0 0 OPN1SW 611 broad.mit.edu 37 7 128415508 128415508 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:128415508G>T ENST00000249389.2 - 1 336 c.337C>A c.(337-339)Ctg>Atg p.L113M NM_001708.2 NP_001699.1 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 113 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 ACAGTGCCCAGGAAGCCCTCC 0.547000 41 107 1.59932e-28 1.75722e-28 1 1 0 AKT1 207 broad.mit.edu 37 14 105239675 105239675 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:105239675G>A ENST00000554581.1 - 9 2350 c.870C>T c.(868-870)atC>atT p.I290I AKT1_ENST00000407796.2_Silent_p.I290I|AKT1_ENST00000554192.1_Silent_p.I10I|AKT1_ENST00000402615.2_Silent_p.I290I|AKT1_ENST00000349310.3_Silent_p.I290I|AKT1_ENST00000544168.1_Silent_p.I228I|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000555528.1_Silent_p.I290I|AKT1_ENST00000554848.1_Silent_p.I290I P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 290 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CGAAGTCTGTGATCTTAATGT 0.642000 1 Mis """breast, colorectal, ovarian, NSCLC""" 4 40 0 0 1 0 0 CYB5B 80777 broad.mit.edu 37 16 69481170 69481170 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:69481170G>A ENST00000512062.1 + 2 451 c.280G>A c.(280-282)Gat>Aat p.D94N CYB5B_ENST00000307892.8_Missense_Mutation_p.D98N|CYB5B_ENST00000561792.1_Missense_Mutation_p.D94N|CYB5B_ENST00000515314.1_Missense_Mutation_p.D94N O43169 CYB5B_HUMAN cytochrome b5 type B (outer mitochondrial membrane) 94 Cytochrome b5 heme-binding. electron transport chain|transport integral to membrane|mitochondrial outer membrane heme binding endometrium(3)|kidney(3)|lung(2) 8 Ovarian(137;0.101) CTACATTGGTGATATCCATCC 0.438000 10 77 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 64 0 0 1 0 0 ADAM10 102 broad.mit.edu 37 15 58925411 58925411 + Missense_Mutation SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:58925411T>A ENST00000260408.3 - 9 1603 c.1160A>T c.(1159-1161)cAt>cTt p.H387L ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.H86L NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 387 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TCCAAAGTTATGTCCAACTTC 0.323000 30 21 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13850197 13850197 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:13850197C>G ENST00000284951.5 - 14 1281 c.1207G>C c.(1207-1209)Gaa>Caa p.E403Q SEL1L2_ENST00000378072.5_Missense_Mutation_p.E403Q|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 403 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CACCCTTTTTCCGCAGCTTTC 0.388000 9 66 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106843678 106843678 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:106843678C>T ENST00000276185.4 + 16 2508 c.2508C>T c.(2506-2508)ctC>ctT p.L836L Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 836 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CCCAGCACCTCAACAAGGACA 0.592000 9 59 0 0 1 0 0 TUBB 203068 broad.mit.edu 37 6 30691431 30691431 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:30691431G>C ENST00000396389.1 + 4 1131 c.538G>C c.(538-540)Gag>Cag p.E180Q TUBB_ENST00000327892.8_Missense_Mutation_p.E198Q|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Missense_Mutation_p.E126Q|TUBB_ENST00000330914.3_Missense_Mutation_p.E126Q|TUBB_ENST00000435534.1_Intron P07437 TBB5_HUMAN tubulin, beta class I 198 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) GAATACTGATGAGACCTATTG 0.522000 6 113 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2701773 2701773 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr4:2701773G>A ENST00000324666.5 + 17 3352 c.3001G>A c.(3001-3003)Gct>Act p.A1001T FAM193A_ENST00000545951.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000505311.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A1023T|FAM193A_ENST00000382839.3_Missense_Mutation_p.A1001T NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1001 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AGGGCTAGGGGCTGATGGGGA 0.537000 6 120 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430797 179430797 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:179430797G>T ENST00000589042.1 - 326 80286 c.80062C>A c.(80062-80064)Cag>Aag p.Q26688K TTN_ENST00000342175.6_Missense_Mutation_p.Q17815K|TTN_ENST00000460472.2_Missense_Mutation_p.Q17623K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17748K|TTN_ENST00000342992.6_Missense_Mutation_p.Q24120K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q25047K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25047 Fibronectin type-III 94. 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) GCCAAATTCTGTGGTGGTCCT 0.423000 8 245 0.00307968 0.0031158 1 1 0 FADS2 9415 broad.mit.edu 37 11 61583770 61583770 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:61583770G>A ENST00000257261.6 + 1 43 c.13G>A c.(13-15)Gag>Aag p.E5K FADS2_ENST00000574708.1_Intron|FADS1_ENST00000541683.1_Intron|FADS1_ENST00000350997.7_Intron O95864 FADS2_HUMAN fatty acid desaturase 2 0 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) GCACGGCAGGGAGGCGGGACC 0.632000 4 67 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78294029 78294029 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:78294029C>G ENST00000409931.3 - 12 2699 c.2628G>C c.(2626-2628)ttG>ttC p.L876F TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L876F Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 876 intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 CTTGCAATTTCAAAATCTCCT 0.418000 3 15 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 169 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27424610 27424610 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:27424610C>T ENST00000211936.6 - 5 577 c.293G>A c.(292-294)tGt>tAt p.C98Y ZNF184_ENST00000377419.1_Missense_Mutation_p.C98Y NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 98 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CTTACCTGCACAGGTACCTAC 0.438000 4 99 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6928498 6928498 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:6928498G>A ENST00000293805.5 + 5 960 c.868G>A c.(868-870)Gaa>Aaa p.E290K NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 290 nucleus zinc ion binding skin(1) 1 ATCACCCTCTGAACGGGCTCG 0.567000 13 155 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2411641 2411641 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:2411641G>C ENST00000449969.1 + 4 615 c.454G>C c.(454-456)Gac>Cac p.D152H PLCH2_ENST00000419816.2_Missense_Mutation_p.D179H|PLCH2_ENST00000378488.3_Missense_Mutation_p.D179H|PLCH2_ENST00000378486.3_Missense_Mutation_p.D179H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 179 Necessary for plasma membrane localization (By similarity).|PH. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GCAGACGTTTGACGAGGCCGA 0.617000 45 156 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220505519 220505519 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:220505519G>A ENST00000358055.3 + 22 3968 c.3456G>A c.(3454-3456)acG>acA p.T1152T SLC4A3_ENST00000273063.6_Silent_p.T1179T|SLC4A3_ENST00000317151.3_Silent_p.T1152T|SLC4A3_ENST00000373760.2_Silent_p.T1152T|SLC4A3_ENST00000373762.3_Silent_p.T1179T P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1152 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGTGAAGACGTGGCGGATGC 0.647000 8 49 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140744753 140744753 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:140744753G>C ENST00000518069.1 + 1 856 c.856G>C c.(856-858)Gaa>Caa p.E286Q PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATGAAGAAGAAAAAATTTC 0.448000 11 49 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80749472 80749472 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:80749472G>A ENST00000509894.1 + 19 3016 c.2187G>A c.(2185-2187)ggG>ggA p.G729G TTK_ENST00000369798.2_Silent_p.G730G|TTK_ENST00000230510.3_Silent_p.G729G P33981 TTK_HUMAN TTK protein kinase 730 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TGACTTACGGGAAAACACCAT 0.313000 5 198 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73474269 73474269 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:73474269G>T ENST00000252034.7 + 23 1867 c.1468G>T c.(1468-1470)Ggt>Tgt p.G490C ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000320399.6_Missense_Mutation_p.G490C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 519 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TCCTGGTGTCGGTGTGGCTCC 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 36 223 2.51541e-25 2.75497e-25 1 1 0 RP11-383M4.6 0 broad.mit.edu 37 9 84562529 84562529 + RNA SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:84562529G>C ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA ATGATCCGGAGACATCTTCAG 0.483000 8 70 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011449 105011449 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:105011449G>C ENST00000372582.1 + 11 2612 c.1856G>C c.(1855-1857)aGa>aCa p.R619T IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.R224T|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R619T NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 619 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CACTGTTGCAGAGGTTATAAA 0.483000 25 124 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141202206 141202206 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:141202206C>G ENST00000389484.3 - 64 11071 c.10100G>C c.(10099-10101)gGa>gCa p.G3367A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3367 LDL-receptor class A 22. 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) AGCACAGAGTCCAGTCCCACA 0.418000 TSP Lung(27;0.18) 8 87 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119738468 119738468 + Splice_Site SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:119738468C>G ENST00000313400.4 - 9 1777 c.e9-1 ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site O75129 ASTN2_HUMAN astrotactin 2 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGGCCAAGGTCTATGGGAAGA 0.493000 13 38 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86817523 86817523 + Silent SNP T T C rs149430074 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:86817523T>C ENST00000414194.2 + 13 2311 c.519T>C c.(517-519)caT>caC p.H173H DMTF1_ENST00000394703.5_Silent_p.H439H|DMTF1_ENST00000331242.7_Silent_p.H439H|DMTF1_ENST00000432937.2_Silent_p.H351H|DMTF1_ENST00000413276.2_Intron Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 439 Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) GTGTGCAGCATGTTCAGATAA 0.423000 50 129 0 0 1 0 0 COMMD1 150684 broad.mit.edu 37 2 62373555 62373555 + RNA SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:62373555T>A ENST00000425966.2 - 0 143 AC018462.2_ENST00000421323.1_RNA gagGAGGATGTCCTTAAGTTC 0.458000 5 17 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38925400 38925400 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:38925400C>G ENST00000274276.3 + 15 2541 c.2139C>G c.(2137-2139)ttC>ttG p.F713L NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 713 Fibronectin type-III 4. 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) ATGAGTTTTTCATCACTCCAT 0.438000 81 124 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151131098 151131098 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:151131098G>A ENST00000370325.1 - 4 413 c.360C>T c.(358-360)atC>atT p.I120I GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.I120I P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 120 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGAAGATGATGTCAATGG 0.478000 14 103 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22925804 22925804 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:22925804G>A ENST00000313077.7 + 2 147 c.22G>A c.(22-24)Gag>Aag p.E8K CYFIP1_ENST00000560848.1_Missense_Mutation_p.E8K NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 8 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GGTGACTCTGGAGGACGCGCT 0.642000 7 34 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214826293 214826293 + Missense_Mutation SNP A A T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:214826293A>T ENST00000366955.3 + 16 8451 c.8283A>T c.(8281-8283)aaA>aaT p.K2761N CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2857 Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ATTCATTGAAAGCTACTACTC 0.338000 31 140 0 0 1 0 0 FNDC4 64838 broad.mit.edu 37 2 27715639 27715639 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:27715639C>A ENST00000264703.3 - 6 954 c.563G>T c.(562-564)tGc>tTc p.C188F NM_022823.2 NP_073734.1 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 188 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) ATACTGACGGCAGAACAGCCC 0.502000 6 62 0.00116845 0.00119264 1 1 0 PGR 5241 broad.mit.edu 37 11 100909997 100909997 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:100909997G>A ENST00000325455.5 - 8 4105 c.2652C>T c.(2650-2652)gtC>gtT p.V884V PGR_ENST00000263463.5_Silent_p.V782V|PGR_ENST00000534013.1_Silent_p.V290V NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 884 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) GAAGTTGTTTGACAAGCTGTT 0.308000 4 73 0 0 1 0 0 TSPAN32 10077 broad.mit.edu 37 11 2339129 2339129 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:2339129G>A ENST00000182290.4 + 10 1075 c.938G>A c.(937-939)tGc>tAc p.C313Y TSPAN32_ENST00000381121.3_Silent_p.V252V|TSPAN32_ENST00000451520.2_Missense_Mutation_p.C302Y NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 313 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) ctcagtgggtgccctgagcgg 0.597000 4 23 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 5 210 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52734980 52734980 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:52734980G>A ENST00000306051.2 + 1 550 c.448G>A c.(448-450)Gca>Aca p.A150T PTGDR_ENST00000553372.1_Missense_Mutation_p.A150T NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 150 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GCGCCTGGGCGCACTGGTGGC 0.647000 15 107 0 0 1 0 0 SLC25A42 284439 broad.mit.edu 37 19 19216416 19216416 + Missense_Mutation SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:19216416T>A ENST00000318596.7 + 5 411 c.260T>A c.(259-261)cTc>cAc p.L87H SLC25A42_ENST00000600275.1_Intron NM_178526.4 NP_848621.2 Q86VD7 S2542_HUMAN solute carrier family 25, member 42 87 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) GAGGGATTTCTCAGCTTGTGG 0.632000 4 36 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1260953 1260953 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:1260953G>A ENST00000348261.5 + 21 4453 c.4205G>A c.(4204-4206)cGg>cAg p.R1402Q CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1402Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1402Q NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1402 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGTCTGCTGCGGACCCTGCGG 0.692000 17 183 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41739249 41739249 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:41739249G>A ENST00000373018.3 - 7 838 c.587C>T c.(586-588)cCg>cTg p.P196L FRS3_ENST00000259748.2_Missense_Mutation_p.P196L NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 196 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TTCACTGGCCGGTGTGTTGAC 0.627000 18 122 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115123922 115123922 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:115123922C>G ENST00000369541.3 - 2 231 c.184G>C c.(184-186)Gaa>Caa p.E62Q BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 62 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-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) ATACTTACTTCAAAGGCAGAA 0.453000 39 205 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234878921 234878921 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:234878921G>A ENST00000324695.4 + 17 2246 c.2206G>A c.(2206-2208)Gtg>Atg p.V736M TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 736 integral to membrane p.V736M(1) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTCCCCCTTCGTGGTCTTCTC 0.547000 38 235 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32964777 32964777 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:32964777G>A ENST00000321639.5 + 10 2809 c.2481G>A c.(2479-2481)cgG>cgA p.R827R NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 827 integral to membrane 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) TGCGCTACCGGCACAAGCGCA 0.627000 4 122 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81209453 81209453 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:81209453C>A ENST00000555265.1 - 19 3147 c.2772G>T c.(2770-2772)gaG>gaT p.E924D CEP128_ENST00000281129.3_Missense_Mutation_p.E924D Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 924 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 CCAGAAGCTGCTCCTGCCTTT 0.403000 16 109 6.49762e-13 7.00525e-13 1 1 0 CCDC102B 79839 broad.mit.edu 37 18 66541979 66541979 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr18:66541979C>G ENST00000360242.5 + 5 1127 c.1010C>G c.(1009-1011)tCt>tGt p.S337C CCDC102B_ENST00000319445.6_Missense_Mutation_p.S337C|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.S337C|CCDC102B_ENST00000358653.5_Missense_Mutation_p.S337C NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 337 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GAATCCAAATCTCAAAACAGC 0.328000 9 43 0 0 1 0 0 IMMP1L 196294 broad.mit.edu 37 11 31484801 31484801 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:31484801T>C ENST00000278200.1 - 3 218 c.23A>G c.(22-24)aAa>aGa p.K8R IMMP1L_ENST00000526776.1_Missense_Mutation_p.K8R|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000532287.1_Missense_Mutation_p.K8R|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_Intron NM_144981.1 NP_659418.1 Q96LU5 IMP1L_HUMAN IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 8 proteolysis mitochondrial inner membrane serine-type peptidase activity breast(1)|cervix(1)|large_intestine(1)|lung(4) 7 Lung SC(675;0.225) TCGAAAGGTTTTCCCCAGAAC 0.368000 20 56 0 0 1 0 0 NPTX2 4885 broad.mit.edu 37 7 98256572 98256572 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:98256572C>T ENST00000265634.3 + 4 1149 c.984C>T c.(982-984)gaC>gaT p.D328D NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 328 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.D328D(1) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) CATTCCAGGACGGAGAGAAGC 0.642000 9 55 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4607333 4607333 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:4607333G>A ENST00000301396.4 - 1 299 c.74C>T c.(73-75)tCg>tTg p.S25L PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S25L|PELP1_ENST00000574876.1_Missense_Mutation_p.S25L|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000572293.1_Missense_Mutation_p.S75L Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 25 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GCTCACTGCCGAGAGACCCCC 0.701000 9 55 0 0 1 0 0 DPF3 8110 broad.mit.edu 37 14 73181199 73181199 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:73181199G>A ENST00000541685.1 - 6 548 c.536C>T c.(535-537)tCt>tTt p.S179F DPF3_ENST00000546183.1_Missense_Mutation_p.S189F|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.S179F NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 179 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GCCCCCTGCAGAGCCGCGAGC 0.597000 5 70 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120322294 120322294 + Silent SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:120322294A>G ENST00000397843.2 + 22 2083 c.1917A>G c.(1915-1917)gaA>gaG p.E639E ARHGEF12_ENST00000356641.3_Silent_p.E620E|ARHGEF12_ENST00000532993.1_Silent_p.E536E NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 639 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TGAGTCCTGAACCTCAGGACT 0.507000 T MLL AML 7 46 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082436 140082436 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:140082436C>T ENST00000323927.2 - 2 241 c.237G>A c.(235-237)ctG>ctA p.L79L NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 79 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GATCGTTCTGCAGCACCTCCA 0.612000 10 47 0 0 1 0 0 CRYGD 1421 broad.mit.edu 37 2 208986503 208986503 + Missense_Mutation SNP C C T rs144372987 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:208986503C>T ENST00000264376.4 - 3 446 c.419G>A c.(418-420)cGa>cAa p.R140Q NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 140 Beta/gamma crystallin 'Greek key' 4. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CTGCCGTCCTCGGTAGTTGGA 0.587000 18 111 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116943599 116943599 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:116943599G>A ENST00000537345.1 + 19 3052 c.2689G>A c.(2689-2691)Gat>Aat p.D897N ATP1A1_ENST00000369496.4_Missense_Mutation_p.D866N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.D897N NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 897 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) CTGGATCAACGATGTGGAAGA 0.572000 9 50 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160394931 160394931 + Silent SNP G G A rs146767141 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:160394931G>A ENST00000368061.2 + 8 1803 c.1329G>A c.(1327-1329)gcG>gcA p.A443A NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 443 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.A443A(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GATACTTGGCGGCTGGACCTA 0.557000 28 36 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56954774 56954774 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:56954774C>G ENST00000497933.1 + 2 993 c.846C>G c.(844-846)ttC>ttG p.F282L NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 252 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCCCGCTCTTCTCACTCACTG 0.587000 19 174 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110530664 110530664 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:110530664G>A ENST00000378402.5 + 73 12062 c.11958G>A c.(11956-11958)aaG>aaA p.K3986K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3986 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGAGGAGGAAGAGATCCATGG 0.398000 HNSCC(38;0.096) 17 77 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149447 34149447 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:34149447G>T ENST00000346193.3 - 1 1000 c.949C>A c.(949-951)Cct>Act p.P317T NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 317 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GTCTTGGGAGGCTCCTGGCGG 0.597000 7 35 0.00198382 0.00201893 1 1 0 SMU1 55234 broad.mit.edu 37 9 33056956 33056956 + Nonsense_Mutation SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:33056956T>A ENST00000397149.3 - 8 924 c.874A>T c.(874-876)Aag>Tag p.K292* SMU1_ENST00000536631.1_Nonsense_Mutation_p.K131* NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 292 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CTCTGAATCTTCCACACCTTT 0.383000 82 165 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) 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) agcagcagcagcaacaacagc 0.562000 4 66 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909721 32909721 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:32909721G>A ENST00000304056.4 - 4 1807 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 370 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) GGCTTTATGCGGACAAAAAGC 0.423000 16 165 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46701814 46701814 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:46701814G>A ENST00000398576.2 - 19 2184 c.1796C>T c.(1795-1797)gCc>gTc p.A599V LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 599 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TTCTGGCAGGGCATACACTCT 0.488000 T BCL6 NHL 5 227 0 0 1 0 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41131263 41131263 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:41131263G>A ENST00000421990.2 - 4 686 c.341C>T c.(340-342)tCc>tTc p.S114F PTGES3L_ENST00000409446.3_Missense_Mutation_p.S76F|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S53F|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S53F|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S114F|PTGES3L_ENST00000453594.1_Intron NM_001136042.2 NP_001129514.2 AATAGAGCGGGAAGAGCGCTT 0.522000 37 198 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151259741 151259741 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:151259741C>A ENST00000368879.2 + 2 1072 c.974C>A c.(973-975)tCt>tAt p.S325Y NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 325 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCAGCTCCTCTAGGCCTCTT 0.577000 8 51 0.00307968 0.0031158 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40758833 40758833 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:40758833C>T ENST00000298910.7 + 49 7429 c.7371C>T c.(7369-7371)gtC>gtT p.V2457V NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2457 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CGGTCAGAGTCATGATGACAG 0.348000 18 78 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009411 120009411 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:120009411G>A ENST00000371311.3 - 1 368 c.114C>T c.(112-114)tcC>tcT p.S38S NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 38 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 TGTCGGGGCCGGAGTCGCCGC 0.741000 17 85 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72850832 72850832 + Splice_Site SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:72850832C>T ENST00000293190.5 - 2 546 c.e2+1 GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Splice_Site NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGGACATGCACCTTGGGGGTG 0.622000 4 45 0 0 1 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606635 82606635 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:82606635G>A ENST00000518568.1 - 1 1774 c.573C>T c.(571-573)tgC>tgT p.C191C NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 191 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 AAAGAAACCCGCAAAATGGCA 0.463000 4 125 0 0 1 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506361 20506361 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr10:20506361G>C ENST00000377252.3 + 11 1970 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 377 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CTAGTCAAAAGAGAAGATGTG 0.418000 8 45 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139825539 139825539 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:139825539C>G ENST00000297183.6 + 6 1250 c.1126C>G c.(1126-1128)Cta>Gta p.L376V ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L376V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAAGTGCTCTAACACTTGC 0.348000 7 51 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220349284 220349284 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:220349284G>A ENST00000312358.7 + 30 7231 c.7099G>A c.(7099-7101)Gag>Aag p.E2367K AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2367 Arg-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCGTGGGGCCGAGGAGGAGGA 0.731000 5 27 0 0 1 0 0 FAM118A 55007 broad.mit.edu 37 22 45732284 45732284 + Nonsense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:45732284C>G ENST00000216214.3 + 9 1880 c.1046C>G c.(1045-1047)tCa>tGa p.S349* FAM118A_ENST00000405548.3_Nonsense_Mutation_p.S167*|FAM118A_ENST00000441876.2_Nonsense_Mutation_p.S349* NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 349 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CGCACACAATCAGATACTGGT 0.448000 5 61 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46986576 46986576 + Missense_Mutation SNP T T G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:46986576T>G ENST00000306503.5 + 2 1079 c.907T>G c.(907-909)Tta>Gta p.L303V SOCS5_ENST00000394861.2_Missense_Mutation_p.L303V NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 303 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGGACCAAAATTAGCTCCTGG 0.433000 45 51 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179051945 179051945 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:179051945C>G ENST00000326361.3 + 7 1638 c.1193C>G c.(1192-1194)aCa>aGa p.T398R ZNF639_ENST00000484866.1_Missense_Mutation_p.T398R|ZNF639_ENST00000496856.1_Missense_Mutation_p.T398R NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 398 Interaction with CTNNA2. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ATTGAACATACAAAAATTTTT 0.323000 33 181 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965663 35965663 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:35965663T>C ENST00000274278.3 - 4 1025 c.668A>G c.(667-669)aAc>aGc p.N223S UGT3A1_ENST00000503189.1_Missense_Mutation_p.N223S|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.N189S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.N169S NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 223 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTGATGGTGTTGTCAAATGT 0.438000 49 89 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130699488 130699488 + Missense_Mutation SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:130699488A>G ENST00000510168.1 + 20 2354 c.1804A>G c.(1804-1806)Atg>Gtg p.M602V ATP2C1_ENST00000359644.3_Missense_Mutation_p.M602V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.M602V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.M602V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.M636V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.M586V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.M547V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.M597V P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 602 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) AATAGATGCAATGGATGTTCA 0.383000 Hailey-Hailey disease 63 57 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42288700 42288700 + Splice_Site SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:42288700C>G ENST00000302904.4 - 11 1540 c.e11-1 UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000529383.1_Splice_Site P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CTTTCTTTTTCTGGGAAAGTG 0.582000 9 42 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106461045 106461045 + Silent SNP C C T rs138538652 byFrequency TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:106461045C>T ENST00000261402.2 - 7 2900 c.1521G>A c.(1519-1521)ccG>ccA p.P507P NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 507 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P507P(4) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TGGCTGGGTCCGGGGGGCTGG 0.602000 14 53 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 6 285 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33591649 33591649 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:33591649T>C ENST00000299977.4 + 4 1734 c.1586T>C c.(1585-1587)cTg>cCg p.L529P SLFN5_ENST00000542451.1_Intron NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 529 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) ATGGAAGCCCTGTTACAGTCC 0.428000 87 61 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47330188 47330188 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:47330188G>C ENST00000342922.4 + 23 4049 c.3692G>C c.(3691-3693)gGc>gCc p.G1231A MADD_ENST00000349238.3_Missense_Mutation_p.G1251A|MADD_ENST00000311027.5_Missense_Mutation_p.G1269A|MADD_ENST00000406482.1_Missense_Mutation_p.G1188A|MADD_ENST00000405573.2_Missense_Mutation_p.G79A|MADD_ENST00000407859.3_Missense_Mutation_p.G1208A|MADD_ENST00000402799.1_Missense_Mutation_p.G1188A|MADD_ENST00000402192.2_Missense_Mutation_p.G1230A|MADD_ENST00000395336.3_Missense_Mutation_p.G1269A|MADD_ENST00000395344.3_Missense_Mutation_p.G1184A NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1269 Ser-rich. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) AAGCTGGCAGGCAGCCCCATT 0.507000 9 63 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17951090 17951090 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:17951090G>A ENST00000458235.1 - 9 1302 c.1203C>T c.(1201-1203)ctC>ctT p.L401L JAK3_ENST00000534444.1_Silent_p.L401L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.L401L NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 401 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGCTGCGGCGGAGAACATAGG 0.597000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 4 40 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61299837 61299837 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:61299837G>A ENST00000217159.1 + 10 2025 c.1820G>A c.(1819-1821)cGt>cAt p.R607H SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R607H NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 607 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) AGATGTGTCCGTGACCCTCAG 0.547000 OREG0026115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 165 0 0 1 0 0 C7orf62 219557 broad.mit.edu 37 7 88424155 88424155 + Missense_Mutation SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:88424155T>A ENST00000297203.2 - 2 287 c.102A>T c.(100-102)caA>caT p.Q34H ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 34 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 GTTTCTCTTCTTGAAAGTGCA 0.423000 44 104 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822387 56822387 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:56822387C>T ENST00000229201.4 - 12 1505 c.1351G>A c.(1351-1353)Gag>Aag p.E451K TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E452K NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 452 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 ATGTCCATCTCATTCACTGTT 0.572000 6 42 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151260445 151260445 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:151260445G>A ENST00000368879.2 + 2 1776 c.1678G>A c.(1678-1680)Gag>Aag p.E560K NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CATGCGCATCGAGGTCACCTG 0.627000 14 85 0 0 1 0 0 IGLV5-52 28779 broad.mit.edu 37 22 22673314 22673314 + RNA SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:22673314C>T ENST00000390289.2 + 0 112 LL22NC03-80A10.6_ENST00000426066.1_RNA TCTGGAGCATCAGTCAGACTC 0.537000 33 296 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158637691 158637691 + Silent SNP A A T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:158637691A>T ENST00000368148.3 - 15 2175 c.1995T>A c.(1993-1995)gtT>gtA p.V665V SPTA1_ENST00000368147.3_Silent_p.V665V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 665 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) AGAGGCTGGCAACTTCACTCA 0.438000 32 73 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23868231 23868231 + Missense_Mutation SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:23868231A>G ENST00000405093.3 - 15 1667 c.1597T>C c.(1597-1599)Tcc>Ccc p.S533P MYH6_ENST00000356287.3_Missense_Mutation_p.S533P NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 533 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCCAGGATGGACATGATGCCC 0.542000 11 83 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48575095 48575095 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr18:48575095C>T ENST00000342988.3 + 3 827 c.289C>T c.(289-291)Cgt>Tgt p.R97C SMAD4_ENST00000452201.2_Missense_Mutation_p.R97C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R97C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R97C|RP11-729L2.2_ENST00000590722.2_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 97 MH1. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(4) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GATCTATGCCCGTCTCTGGAG 0.373000 13 30 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123516636 123516636 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:123516636C>G ENST00000422452.2 - 31 7387 c.7324G>C c.(7324-7326)Ggt>Cgt p.G2442R STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G2435R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AATTGGAAACCAAATAGCTCC 0.323000 40 230 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100175784 100175784 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:100175784C>T ENST00000310300.6 - 7 998 c.946G>A c.(946-948)Gag>Aag p.E316K LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 316 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCCTTACCTCATTTCCAGAC 0.587000 6 28 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21581470 21581470 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:21581470G>C ENST00000425654.2 + 12 1898 c.1418G>C c.(1417-1419)aGt>aCt p.S473T CNKSR2_ENST00000379510.3_Missense_Mutation_p.S503T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S503T|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S454T NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 503 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GGTGATAAGAGTAATAGCCCA 0.408000 13 78 0 0 1 0 0 B4GALT4 8702 broad.mit.edu 37 3 118948733 118948733 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:118948733C>T ENST00000467604.1 - 3 605 c.214G>A c.(214-216)Gta>Ata p.V72I B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Missense_Mutation_p.V25I|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000483209.1_Missense_Mutation_p.V72I|B4GALT4_ENST00000393765.2_Missense_Mutation_p.V72I|B4GALT4_ENST00000359213.3_Missense_Mutation_p.V72I O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 72 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) TCAAGTTCTACCTTCTTCGTG 0.368000 7 104 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87969626 87969626 + Silent SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:87969626A>G ENST00000369577.3 + 8 6322 c.6279A>G c.(6277-6279)aaA>aaG p.K2093K ZNF292_ENST00000339907.4_Silent_p.K2088K NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2093 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGGAGAAAAAACGAAAGAAGC 0.403000 52 32 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20109066 20109066 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:20109066C>T ENST00000395530.2 + 2 1669 c.1461C>T c.(1459-1461)gcC>gcT p.A487A SPECC1_ENST00000395522.2_Silent_p.A487A|SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.A568A|SPECC1_ENST00000395529.3_Silent_p.A568A|SPECC1_ENST00000395525.3_Silent_p.A487A|SPECC1_ENST00000395527.4_Silent_p.A568A|SPECC1_ENST00000536879.1_Intron NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 568 nucleus p.A568A(1) breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) CCACAGAGGCCAGTGCTGTGG 0.468000 15 78 0 0 1 0 0 GMPR2 51292 broad.mit.edu 37 14 24707474 24707474 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:24707474G>A ENST00000557854.1 + 8 1051 c.774G>A c.(772-774)atG>atA p.M258I GMPR2_ENST00000559910.1_Missense_Mutation_p.M207I|GMPR2_ENST00000559836.1_Missense_Mutation_p.M240I|GMPR2_ENST00000348719.7_Missense_Mutation_p.M240I|GMPR2_ENST00000559104.1_Missense_Mutation_p.M225I|GMPR2_ENST00000355299.4_Missense_Mutation_p.M240I|GMPR2_ENST00000420554.2_Missense_Mutation_p.M258I|GMPR2_ENST00000456667.3_Missense_Mutation_p.M212I|GMPR2_ENST00000399440.2_Missense_Mutation_p.M240I Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 240 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) ACTTCGTGATGCTGGGTGGCA 0.542000 10 53 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121823612 121823612 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:121823612C>T ENST00000395601.3 - 2 886 c.472G>A c.(472-474)Gac>Aac p.D158N SNTB1_ENST00000517992.1_Missense_Mutation_p.D158N|SNTB1_ENST00000519177.1_5'UTR NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 158 PDZ.|PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) AGGATGGCGTCGCCCACGTAC 0.647000 33 94 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 601763 601763 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:601763G>A ENST00000381578.1 + 5 1265 c.574G>A c.(574-576)Gac>Aac p.D192N SHOX_ENST00000554971.1_Missense_Mutation_p.D192N|SHOX_ENST00000334060.3_Missense_Mutation_p.D192N|SHOX_ENST00000381575.1_Missense_Mutation_p.D192N NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 192 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAACCACCTAGACGCCTGCCG 0.582000 4 80 0 0 1 0 0 METTL18 92342 broad.mit.edu 37 1 169762501 169762501 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:169762501C>T ENST00000310392.4 - 2 689 c.336G>A c.(334-336)atG>atA p.M112I C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.M112I NM_033418.2 NP_219486.1 O95568 MET18_HUMAN methyltransferase like 18 112 cytoplasm protein methyltransferase activity kidney(1)|large_intestine(3)|lung(4) 8 TATTTTCTAACATCTTCTTTA 0.408000 8 89 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 92003563 92003563 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:92003563C>T ENST00000450295.1 - 11 1871 c.1095G>A c.(1093-1095)ccG>ccA p.P365P SEMA4D_ENST00000438547.2_Silent_p.P365P|SEMA4D_ENST00000356444.2_Silent_p.P365P|SEMA4D_ENST00000420987.1_Silent_p.P365P|SEMA4D_ENST00000339861.4_Silent_p.P365P|SEMA4D_ENST00000422704.2_Silent_p.P365P|SEMA4D_ENST00000455551.2_Silent_p.P365P|SEMA4D_ENST00000343780.4_Silent_p.P365P Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 365 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 CTCCAGGCCGCGGCTTGGGTA 0.652000 28 9 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57432763 57432763 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:57432763C>T ENST00000442789.2 - 17 1650 c.1363G>A c.(1363-1365)Gag>Aag p.E455K MYO1A_ENST00000300119.3_Missense_Mutation_p.E455K|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.E293K NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 455 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AGGCACTCCTCATCCAACATG 0.557000 9 30 0 0 1 0 0 POLR1B 84172 broad.mit.edu 37 2 113322052 113322052 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:113322052C>T ENST00000263331.5 + 10 2302 c.1722C>T c.(1720-1722)atC>atT p.I574I POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.I363I|POLR1B_ENST00000541869.1_Silent_p.I612I|POLR1B_ENST00000417433.2_Silent_p.I518I NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 574 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CTCCAGGCATCGCAGATTCTC 0.493000 27 151 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193361784 193361784 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:193361784C>T ENST00000361510.2 + 16 1732 c.1498C>T c.(1498-1500)Cgc>Tgc p.R500C OPA1_ENST00000361908.3_Missense_Mutation_p.R482C|OPA1_ENST00000392438.3_Missense_Mutation_p.R445C|OPA1_ENST00000361828.2_Missense_Mutation_p.R463C|OPA1_ENST00000361150.2_Missense_Mutation_p.R446C|OPA1_ENST00000361715.2_Missense_Mutation_p.R464C NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 445 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GGATGCTGAACGCAGTATTGT 0.373000 13 124 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101362340 101362340 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:101362340C>T ENST00000344327.3 - 3 1499 c.1075G>A c.(1075-1077)Ggt>Agt p.G359S TRPC6_ENST00000532133.1_Missense_Mutation_p.G359S|TRPC6_ENST00000360497.4_Missense_Mutation_p.G359S|TRPC6_ENST00000348423.4_Intron NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 359 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTTGGGCGACCGTGATCACCA 0.433000 32 274 0 0 1 0 0 EXOSC3 51010 broad.mit.edu 37 9 37785032 37785032 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:37785032G>C ENST00000327304.5 - 1 22 c.10C>G c.(10-12)Cct>Gct p.P4A RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Missense_Mutation_p.P4A NM_016042.3 NP_057126.2 Q9NQT5 EXOS3_HUMAN exosome component 3 4 CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding breast(2)|endometrium(1)|kidney(1) 4 GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221) ACAGACGCAGGTTCGGCCATC 0.667000 7 26 0 0 1 0 0 MVD 4597 broad.mit.edu 37 16 88722565 88722565 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:88722565C>T ENST00000301012.3 - 5 580 c.551G>A c.(550-552)cGg>cAg p.R184Q MVD_ENST00000568709.1_5'UTR NM_002461.1 NP_002452.1 P53602 MVD1_HUMAN mevalonate (diphospho) decarboxylase 184 cholesterol biosynthetic process|positive regulation of cell proliferation cytosol ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity endometrium(3)|large_intestine(1)|lung(7)|ovary(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGCCACTTGCCGAGCGATGCT 0.692000 16 94 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40094848 40094848 + RNA SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:40094848G>A ENST00000591658.1 + 0 732 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) CCTGACTGTGGAGGACCTCAT 0.587000 10 186 0 0 1 0 0 MEX3A 92312 broad.mit.edu 37 1 156046533 156046533 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:156046533G>A ENST00000532414.2 - 2 1394 c.1395C>T c.(1393-1395)ggC>ggT p.G465G NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 465 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) AATCCCGCCCGCCGCCGGGGC 0.692000 4 18 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54544280 54544280 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:54544280C>G ENST00000338372.2 - 9 821 c.646G>C c.(646-648)Gag>Cag p.E216Q VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.E128Q|VSTM1_ENST00000376626.1_Missense_Mutation_p.E185Q NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 216 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) GAAGCTGCCTCAGACAGGGCG 0.527000 5 37 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116525882 116525882 + Missense_Mutation SNP C C T rs142535149 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:116525882C>T ENST00000410059.1 + 13 1603 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S DPP10_ENST00000310323.8_Missense_Mutation_p.P368S|DPP10_ENST00000409163.1_Missense_Mutation_p.P325S|DPP10_ENST00000393147.2_Missense_Mutation_p.P379S NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 375 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GAATGAGGAGCCCGTGTTTTC 0.448000 11 64 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37250011 37250011 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:37250011C>T ENST00000373491.3 + 4 618 c.472C>T c.(472-474)Cgg>Tgg p.R158W NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 158 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) ACTCCCTCTCCGGCCCATCAT 0.537000 13 61 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117143419 117143419 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:117143419G>A ENST00000307564.4 - 2 356 c.195C>T c.(193-195)caC>caT p.H65H AKNA_ENST00000312033.3_Silent_p.H65H|AKNA_ENST00000374088.3_Silent_p.H65H NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GGGGCGGCAGGTGCTGCTGGG 0.607000 5 49 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48387816 48387816 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:48387816G>C ENST00000380518.3 - 13 995 c.831C>G c.(829-831)ttC>ttG p.F277L COL2A1_ENST00000337299.6_Missense_Mutation_p.F208L NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 277 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGGTTCCTGGGAAACCACGAG 0.542000 46 224 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57309018 57309018 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:57309018G>A ENST00000457912.1 + 1 40 c.40G>A c.(40-42)Gag>Aag p.E14K E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 120 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 TTGCTCAGCAGAGGCCAGGGA 0.512000 19 148 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27024266 27024266 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:27024266G>A ENST00000354760.3 + 5 350 c.315G>A c.(313-315)tcG>tcA p.S105S CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 105 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 ACCGTGACTCGAGGCTGACAA 0.567000 14 104 0 0 1 0 0 MMGT1 93380 broad.mit.edu 37 X 135047200 135047200 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:135047200C>T ENST00000305963.2 - 4 766 c.379G>A c.(379-381)Gaa>Aaa p.E127K MMGT1_ENST00000433339.2_Missense_Mutation_p.E192K NM_173470.1 NP_775741.1 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 127 early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1) 3 CGCAGTGATTCGAGTTTTCGT 0.413000 31 256 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153555958 153555958 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:153555958G>T ENST00000369915.3 + 11 1612 c.1423G>T c.(1423-1425)Gac>Tac p.D475Y TKTL1_ENST00000482044.1_3'UTR|TKTL1_ENST00000217905.7_Missense_Mutation_p.D215Y|TKTL1_ENST00000369912.2_Missense_Mutation_p.D419Y NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 475 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGTGTCAGTGACAAGGTCAC 0.468000 21 131 1.50039e-11 1.60756e-11 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12418524 12418524 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:12418524G>A ENST00000358136.3 + 50 10138 c.10008G>A c.(10006-10008)atG>atA p.M3336I VPS13D_ENST00000356315.4_Missense_Mutation_p.M3311I NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3335 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCTGCACGATGAGAATCGGAA 0.488000 16 110 0 0 1 0 0 CCDC7 221016 broad.mit.edu 37 10 32751975 32751975 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr10:32751975G>A ENST00000545067.1 + 6 804 c.508G>A c.(508-510)Gaa>Aaa p.E170K CCDC7_ENST00000277657.6_Missense_Mutation_p.E170K|CCDC7_ENST00000537047.1_Missense_Mutation_p.E170K|CCDC7_ENST00000535327.1_Missense_Mutation_p.E170K|CCDC7_ENST00000362006.5_Missense_Mutation_p.E170K|CCDC7_ENST00000539197.1_Missense_Mutation_p.E170K Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 170 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) TCAGATGGAAGAAGTAAGTCT 0.264000 6 37 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063756 48063756 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:48063756G>A ENST00000316364.5 + 19 3435 c.2996G>A c.(2995-2997)gGa>gAa p.G999E SEMA6D_ENST00000389432.2_Missense_Mutation_p.G956E|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G980E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G943E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G999E|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G924E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G937E NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 999 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AACCGTGGAGGATATATGCCC 0.483000 15 113 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824115 38824115 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:38824115C>T ENST00000303592.3 - 2 281 c.23G>A c.(22-24)gGc>gAc p.G8D NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 8 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GTGGGCCTGGCCGTTGCGGCT 0.657000 7 476 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18600179 18600179 + Missense_Mutation SNP T T A rs45449301 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr18:18600179T>A ENST00000399799.1 - 12 2234 c.1294A>T c.(1294-1296)Atc>Ttc p.I432F NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 432 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AGCTTATAGATTGTTTTTTGC 0.264000 7 64 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935675 151935675 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:151935675G>A ENST00000393902.3 - 3 1059 c.492C>T c.(490-492)atC>atT p.I164I MAGEA3_ENST00000370278.3_Silent_p.I164I P43357 MAGA3_HUMAN melanoma antigen family A, 3 164 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) CCATCAGCTCGATGCCAAAGA 0.532000 6 214 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102516358 102516358 + Missense_Mutation SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:102516358G>C ENST00000421544.1 + 16 3189 c.2699G>C c.(2698-2700)aGg>aCg p.R900T GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R851T|GRIK2_ENST00000369137.3_Missense_Mutation_p.R824T|GRIK2_ENST00000413795.1_3'UTR NM_021956.4 NP_068775.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 900 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) AACGACAGAAGGTTGCCAGGT 0.443000 6 64 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683808 6683808 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:6683808C>T ENST00000321535.4 + 2 751 c.621C>T c.(619-621)caC>caT p.H207H NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 207 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TCAGCCATCACCTTGCTGTCT 0.493000 4 58 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156126262 156126262 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:156126262C>T ENST00000368285.3 + 3 464 c.197C>T c.(196-198)aCt>aTt p.T66I SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T66I|SEMA4A_ENST00000355014.2_Missense_Mutation_p.T66I|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 66 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GATTTTGACACTCTGCTCCTG 0.537000 26 116 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109513507 109513507 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:109513507G>A ENST00000409271.1 - 12 1742 c.1299C>T c.(1297-1299)atC>atT p.I433I EDAR_ENST00000376651.1_Silent_p.I433I|EDAR_ENST00000258443.2_Silent_p.I401I Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 401 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTGCCGTGCTGATGCGGTCAA 0.572000 16 27 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138657715 138657715 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:138657715G>A ENST00000394800.2 + 14 2280 c.1731G>A c.(1729-1731)ctG>ctA p.L577L MATR3_ENST00000504203.1_Silent_p.L239L|MATR3_ENST00000394805.3_Silent_p.L577L|MATR3_ENST00000502499.1_Silent_p.L239L|MATR3_ENST00000509990.1_Silent_p.L577L|MATR3_ENST00000361059.2_Silent_p.L577L|MATR3_ENST00000510056.1_Silent_p.L577L|MATR3_ENST00000503811.1_Silent_p.L289L|MATR3_ENST00000502929.1_Silent_p.L577L P43243 MATR3_HUMAN matrin 3 577 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AACTGGTTCTGAGGGTATGTA 0.338000 13 75 0 0 1 0 0 GPR155 151556 broad.mit.edu 37 2 175337792 175337792 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:175337792C>T ENST00000392552.2 - 3 999 c.761G>A c.(760-762)gGa>gAa p.G254E GPR155_ENST00000392551.2_Missense_Mutation_p.G254E|GPR155_ENST00000295500.4_Missense_Mutation_p.G254E NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 254 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 TAGGGCTGATCCAGAAAAAGA 0.368000 17 123 0 0 1 0 0 GPR52 9293 broad.mit.edu 37 1 174417581 174417581 + Nonsense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:174417581C>G ENST00000367685.2 + 1 370 c.332C>G c.(331-333)tCa>tGa p.S111* RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 111 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 GTCCACGAGTCATTGACTTGC 0.423000 21 315 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8257989 8257989 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:8257989G>A ENST00000402384.3 - 6 791 c.525C>T c.(523-525)gaC>gaT p.D175D ICA1_ENST00000401396.1_Silent_p.D163D|ICA1_ENST00000422063.2_Silent_p.D175D|ICA1_ENST00000406470.2_Silent_p.D175D|ICA1_ENST00000265577.7_Silent_p.D174D|ICA1_ENST00000396675.3_Silent_p.D175D|ICA1_ENST00000407906.1_Silent_p.D175D Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 175 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CCTGAGACACGTCCTTCATCC 0.502000 38 91 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823738 70823738 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:70823738C>T ENST00000373695.1 + 7 1148 c.611C>T c.(610-612)tCa>tTa p.S204L ACRC_ENST00000373696.3_Missense_Mutation_p.S204L Q96QF7 ACRC_HUMAN acidic repeat containing 204 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) AGTGATGATTCATCCGACGAC 0.498000 71 397 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178834309 178834309 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:178834309C>T ENST00000234816.2 - 3 1050 c.603G>A c.(601-603)ttG>ttA p.L201L RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Silent_p.L201L|RALGPS2_ENST00000367635.3_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 201 extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 AAAATATCCTCAAGCACTGTT 0.463000 5 214 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158522676 158522676 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:158522676C>T ENST00000313708.6 - 4 645 c.363G>A c.(361-363)agG>agA p.R121R EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.R121R|EBF1_ENST00000380654.4_Silent_p.R121R NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 121 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTGCTCCGTCCTTATCCCTA 0.453000 T HMGA2 lipoma 10 42 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46181398 46181398 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:46181398G>A ENST00000590918.1 + 12 1165 c.1066G>A c.(1066-1068)Gtg>Atg p.V356M GIPR_ENST00000304207.8_Missense_Mutation_p.V320M|GIPR_ENST00000263281.3_Missense_Mutation_p.V356M NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 356 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) CCACGAGGTGGTGTTTGCTCC 0.672000 10 27 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37211354 37211354 + Silent SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:37211354C>G ENST00000585696.1 + 3 2865 c.1635C>G c.(1633-1635)ctC>ctG p.L545L ZNF567_ENST00000392163.2_Silent_p.L545L|ZNF567_ENST00000360729.4_Silent_p.L545L|ZNF567_ENST00000588311.1_Silent_p.L545L|ZNF567_ENST00000536254.2_Silent_p.L576L|ZNF850_ENST00000589390.1_Intron Q8N184 ZN567_HUMAN zinc finger protein 567 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGTCATATCTCATTCATCATC 0.413000 12 87 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124267234 124267234 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:124267234G>A ENST00000395571.3 - 3 1570 c.953C>T c.(952-954)tCt>tTt p.S318F ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S318F|ZHX1_ENST00000522655.1_Missense_Mutation_p.S318F NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 318 Required for dimerization.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGCTTGAGCAGAAAGAACTGT 0.413000 38 347 0 0 1 0 0 SPRY2 10253 broad.mit.edu 37 13 80911079 80911079 + Silent SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:80911079T>C ENST00000377102.1 - 2 1739 c.762A>G c.(760-762)tcA>tcG p.S254S SPRY2_ENST00000540649.1_Silent_p.S254S|SPRY2_ENST00000377104.3_Silent_p.S254S O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 254 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CACCCATGGCTGACCATCGTG 0.473000 10 68 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180324050 180324050 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:180324050C>T ENST00000412756.2 + 8 1008 c.939C>T c.(937-939)atC>atT p.I313I TTC14_ENST00000382584.4_Silent_p.I313I|TTC14_ENST00000296015.4_Silent_p.I313I NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 313 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GTGTGAAGATCGGAGTTGACT 0.323000 8 140 0 0 1 0 0 OR10G3 26533 broad.mit.edu 37 14 22038630 22038630 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:22038630G>A ENST00000303532.1 - 1 245 c.246C>T c.(244-246)ctC>ctT p.L82L NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) AGTTCATCATGAGGCGAGGGA 0.502000 6 41 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578262 7578262 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:7578262C>G ENST00000420246.2 - 6 719 c.587G>C c.(586-588)cGa>cCa p.R196P TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R196P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCCTTCCACTCGGATAAGATG 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 34 26 0 0 1 0 0 CLEC12B 387837 broad.mit.edu 37 12 10167981 10167981 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:10167981G>A ENST00000396502.1 + 4 668 c.540G>A c.(538-540)gtG>gtA p.V180V RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Silent_p.V180V NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 180 C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 CCACCCTAGTGAAGATAGACA 0.363000 9 77 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1216992 1216992 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:1216992G>A ENST00000304460.10 + 8 1161 c.1105G>A c.(1105-1107)Gcc>Acc p.A369T NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 369 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCGGTGCAACGCCTCCGACCC 0.617000 82 164 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62400972 62400972 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:62400972T>C ENST00000346178.4 - 7 656 c.641A>G c.(640-642)gAc>gGc p.D214G GANAB_ENST00000534779.1_Missense_Mutation_p.D100G|GANAB_ENST00000540933.1_Missense_Mutation_p.D95G|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000356638.3_Missense_Mutation_p.D192G NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 192 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 CTCAGCTGGGTCTTTTGATCC 0.622000 5 86 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187177145 187177145 + Splice_Site SNP G G C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr4:187177145G>C ENST00000264690.6 + 13 1676 c.e13-1 KLKB1_ENST00000513864.1_Splice_Site NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 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) TTATGTTTCAGAATTCCAAAA 0.338000 20 24 0 0 1 0 0 TRAPPC13 80006 broad.mit.edu 37 5 64931138 64931138 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:64931138G>A ENST00000399438.3 + 2 402 c.57G>A c.(55-57)ctG>ctA p.L19L TRAPPC13_ENST00000438419.2_Silent_p.L19L|TRAPPC13_ENST00000231526.4_Silent_p.L19L|TRAPPC13_ENST00000505553.1_Silent_p.L19L|TRAPPC13_ENST00000545191.1_Silent_p.L19L NM_001093755.1|NM_024941.3 NP_001087224.1|NP_079217.2 trafficking protein particle complex 13 TGATGCGGCTGACTAAGCCTA 0.363000 11 47 0 0 1 0 0 ATP6V0C 527 broad.mit.edu 37 16 2569686 2569686 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:2569686C>G ENST00000330398.4 + 3 642 c.408C>G c.(406-408)atC>atG p.I136M RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.I93M|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.I93M NM_001198569.1|NM_001694.3 NP_001185498.1|NP_001685.1 P27449 VATL_HUMAN ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c 136 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding endometrium(1)|lung(1)|ovary(1) 3 Ovarian(90;0.17) TGATTCTCATCTTCGCCGAGG 0.617000 18 94 0 0 1 0 0 SUV39H1 6839 broad.mit.edu 37 X 48565906 48565906 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:48565906G>A ENST00000376687.3 + 6 1374 c.1184G>A c.(1183-1185)cGg>cAg p.R395Q SUV39H1_ENST00000337852.6_Missense_Mutation_p.R406Q|SUV39H1_ENST00000482260.1_3'UTR|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_3'UTR NM_003173.2 NP_003164.1 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 (Drosophila) 395 cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 CCTAAGAAGCGGGTCCGTATT 0.592000 17 113 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30749638 30749638 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr10:30749638C>A ENST00000263056.1 + 9 1973 c.1277C>A c.(1276-1278)tCt>tAt p.S426Y MAP3K8_ENST00000375321.1_Missense_Mutation_p.S426Y|MAP3K8_ENST00000542547.1_Missense_Mutation_p.S426Y NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 426 Missing (in oncogenic form). cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) TTTTCAGATTCTTCGTGCACA 0.438000 8 35 0.000157383 0.000161599 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57767486 57767486 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:57767486G>A ENST00000371030.2 + 1 1412 c.1412G>A c.(1411-1413)cGc>cAc p.R471H NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 471 intracellular nucleic acid binding|zinc ion binding p.R471L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGCCCCGTGCGCTCCACCTGG 0.672000 6 48 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113711342 113711342 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:113711342C>T ENST00000003302.4 - 5 580 c.512G>A c.(511-513)tGt>tAt p.C171Y USP28_ENST00000545540.1_Missense_Mutation_p.C46Y|USP28_ENST00000537706.1_Missense_Mutation_p.C171Y|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Missense_Mutation_p.C171Y NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 171 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACTAAACCAACATGTATTGCC 0.373000 11 47 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57753888 57753888 + Missense_Mutation SNP A A C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:57753888A>C ENST00000281282.5 + 8 2279 c.2201A>C c.(2200-2202)cAg>cCg p.Q734P NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 734 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GAGCTCTTACAGGCAAAACAG 0.517000 26 114 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60663567 60663567 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:60663567G>A ENST00000582809.1 + 17 1696 c.993G>A c.(991-993)gaG>gaA p.E331E TLK2_ENST00000343388.7_Silent_p.E448E|TLK2_ENST00000326270.9_Silent_p.E502E|TLK2_ENST00000346027.5_Silent_p.E480E|TLK2_ENST00000542523.1_Silent_p.E448E Q86UE8 TLK2_HUMAN tousled-like kinase 2 502 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 GGAGAGATGAGAAAAAGGAGA 0.323000 8 67 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49907342 49907342 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:49907342C>A ENST00000299338.6 - 2 330 c.27G>T c.(25-27)agG>agT p.R9S FAM227B_ENST00000560246.1_Missense_Mutation_p.R9S|FAM227B_ENST00000561064.1_Missense_Mutation_p.R9S|FAM227B_ENST00000558594.1_Missense_Mutation_p.R9S|FAM227B_ENST00000558862.1_5'UTR NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TGCTGCTCCTCCTTTGACATG 0.473000 24 134 4.72057e-08 4.9957e-08 1 1 0 XPO4 64328 broad.mit.edu 37 13 21357969 21357969 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:21357969G>A ENST00000400602.2 - 23 3383 c.3348C>T c.(3346-3348)ctC>ctT p.L1116L XPO4_ENST00000255305.6_Silent_p.L1116L NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 1116 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TGCTTGCAGTGAGCTTGTTGA 0.433000 22 202 0 0 1 0 0 CDC16 8881 broad.mit.edu 37 13 115028376 115028376 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:115028376T>C ENST00000360383.3 + 16 1597 c.1399T>C c.(1399-1401)Tac>Cac p.Y467H CDC16_ENST00000375310.1_Missense_Mutation_p.Y373H|CDC16_ENST00000375312.3_Missense_Mutation_p.Y322H|CDC16_ENST00000252457.5_Missense_Mutation_p.Y466H|CDC16_ENST00000356221.3_Missense_Mutation_p.Y467H|CDC16_ENST00000252458.6_Missense_Mutation_p.Y322H|CDC16_ENST00000375308.1_Missense_Mutation_p.Y373H NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 467 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) GGCCTTGGATTACCACCGTCA 0.438000 15 151 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55798463 55798463 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:55798463G>A ENST00000309383.1 + 2 502 c.225G>A c.(223-225)ctG>ctA p.L75L BRSK1_ENST00000590333.1_Silent_p.L91L|BRSK1_ENST00000585418.1_Silent_p.L75L NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 75 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) AGTCGGTGCTGATGAAGGTGT 0.662000 15 59 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102508995 102508995 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:102508995G>A ENST00000360184.4 + 69 12587 c.12423G>A c.(12421-12423)gcG>gcA p.A4141A RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4141 AAA 6 (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 TGCTCCGTGCGGGCCGCATCT 0.587000 6 60 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80046346 80046346 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:80046346G>A ENST00000341700.6 - 4 997 c.484C>T c.(484-486)Cgc>Tgc p.R162C GNA14_ENST00000464095.1_5'UTR NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 162 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 GTGGCGATGCGGTCAATGTCA 0.498000 12 74 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39541122 39541122 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:39541122G>A ENST00000379631.4 - 7 1060 c.716C>T c.(715-717)gCt>gTt p.A239V STOML3_ENST00000423210.1_Missense_Mutation_p.A230V NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 239 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) GGGAGACTCAGCCAGCACCAT 0.468000 4 66 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23548064 23548064 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr14:23548064C>T ENST00000262710.1 - 7 2473 c.2146G>A c.(2146-2148)Gaa>Aaa p.E716K ACIN1_ENST00000457657.1_Missense_Mutation_p.E676K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E658K|ACIN1_ENST00000555053.1_Missense_Mutation_p.E716K|ACIN1_ENST00000555352.1_5'UTR NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 716 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ACATGCTTTTCAGCTGATTCA 0.532000 6 48 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84525922 84525922 + Silent SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:84525922T>A ENST00000360700.4 + 10 2398 c.1512T>A c.(1510-1512)gcT>gcA p.A504A ZNF711_ENST00000373165.3_Silent_p.A458A|ZNF711_ENST00000276123.3_Silent_p.A458A|ZNF711_ENST00000395402.1_Silent_p.A466A|ZNF711_ENST00000542798.1_Silent_p.A300A Q9Y462 ZN711_HUMAN zinc finger protein 711 458 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 ACAGAGAGGCTAGTCCACTGA 0.383000 8 35 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209710 140209710 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:140209710G>A ENST00000529310.1 + 1 2148 c.2034G>A c.(2032-2034)gcG>gcA p.A678A PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAAAGGCGTCATCACGGG 0.677000 18 81 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 58 0.00909568 0.00912212 1 1 0 BAI2 576 broad.mit.edu 37 1 32198168 32198168 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:32198168C>T ENST00000373658.3 - 27 4011 c.3670G>A c.(3670-3672)Gag>Aag p.E1224K BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Missense_Mutation_p.E1212K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1224K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1157K|BAI2_ENST00000440175.2_Missense_Mutation_p.E833K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1139K|BAI2_ENST00000257070.4_Missense_Mutation_p.E1191K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1124K|BAI2_ENST00000527361.1_Missense_Mutation_p.E1191K NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1224 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCTTCGCTCTCATCAGCCCGG 0.667000 4 58 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108863391 108863391 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:108863391C>T ENST00000356922.4 - 2 498 c.226G>A c.(226-228)Gaa>Aaa p.E76K LIG4_ENST00000405925.1_Missense_Mutation_p.E76K|LIG4_ENST00000442234.1_Missense_Mutation_p.E76K NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 76 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTCTCTCTTTCTAGCTGAGGA 0.353000 Non-homologous end-joining 18 151 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43945591 43945591 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:43945591C>A ENST00000343694.3 + 12 1618 c.1546C>A c.(1546-1548)Cag>Aag p.Q516K RBPJL_ENST00000372743.1_Missense_Mutation_p.Q515K|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 516 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) CCTCTTCATCCAGACTTAGGC 0.706000 31 94 8.16721e-17 8.86065e-17 1 1 0 CCDC67 159989 broad.mit.edu 37 11 93065448 93065448 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:93065448C>T ENST00000298050.3 + 2 123 c.23C>T c.(22-24)aCg>aTg p.T8M CCDC67_ENST00000527307.1_Missense_Mutation_p.T8M|CCDC67_ENST00000530273.1_Missense_Mutation_p.T8M|CCDC67_ENST00000530053.1_3'UTR NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 8 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GCCCATAATACGATGGGGTAA 0.323000 4 17 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222515 140222515 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:140222515G>A ENST00000531613.1 + 1 1609 c.1609G>A c.(1609-1611)Gcg>Acg p.A537T PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A537T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGTGAGCGCGCGCGACGC 0.667000 27 155 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24522815 24522815 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:24522815C>T ENST00000355123.4 - 12 1750 c.1307G>A c.(1306-1308)cGa>cAa p.R436Q ITSN2_ENST00000361999.3_Missense_Mutation_p.R436Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.R436Q NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 436 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTTCCTCTCGTTGTCTCTC 0.328000 5 108 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37382282 37382282 + Missense_Mutation SNP C C T rs146510671 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:37382282C>T ENST00000310758.4 - 2 660 c.13G>A c.(13-15)Gcg>Acg p.A5T ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 5 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.A5T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 ACGATGTCCGCGGGTGGCGGC 0.502000 25 175 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31324973 31324973 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:31324973G>A ENST00000542188.1 - 21 3235 c.2922C>T c.(2920-2922)atC>atT p.I974I TRPM1_ENST00000397795.2_Silent_p.I935I|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I957I NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 935 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ACCAGAAGATGATATCCACAC 0.483000 17 93 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6103696 6103696 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:6103696C>T ENST00000261405.5 - 36 6395 c.6141G>A c.(6139-6141)atG>atA p.M2047I NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2047 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGACCTCATGCATGATGGCAC 0.468000 13 84 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450115 110450115 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:110450115C>G ENST00000260283.4 - 16 3839 c.3555G>C c.(3553-3555)agG>agC p.R1185S ARHGAP20_ENST00000533353.1_Missense_Mutation_p.R1159S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000529591.1_Splice_Site|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.R1162S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.R1159S NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1185 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TGGTTAAATACCTGTCCTCAA 0.443000 5 116 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356450 55356450 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:55356450C>G ENST00000524622.1 - 7 1479 c.818G>C c.(817-819)aGa>aCa p.R273T TESPA1_ENST00000316577.8_Missense_Mutation_p.R411T|TESPA1_ENST00000532804.1_Missense_Mutation_p.R273T|TESPA1_ENST00000531122.1_Missense_Mutation_p.R273T|TESPA1_ENST00000449076.1_Missense_Mutation_p.R411T NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 411 ACACAGCTCTCTCCTTATCTG 0.507000 22 103 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70488940 70488940 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:70488940G>A ENST00000310961.5 + 18 1996 c.1578G>A c.(1576-1578)caG>caA p.Q526Q RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.Q521Q Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 521 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCGTCCCCCAGAATGACCCAC 0.562000 8 71 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530760 140530760 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:140530760G>A ENST00000231136.1 + 1 922 c.922G>A c.(922-924)Gag>Aag p.E308K PCDHB6_ENST00000543635.1_Missense_Mutation_p.E172K NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 308 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGGATTTTGAGGAAATTCA 0.458000 17 63 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119670819 119670819 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:119670819G>T ENST00000371322.5 - 15 2070 c.2009C>A c.(2008-2010)cCg>cAg p.P670Q CUL4B_ENST00000404115.3_Missense_Mutation_p.P688Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.P675Q NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 688 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CACATATGTCGGCCAATAGCC 0.373000 26 140 9.80776e-20 1.06741e-19 1 1 0 KANK4 163782 broad.mit.edu 37 1 62739257 62739257 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:62739257C>T ENST00000371153.4 - 3 1897 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 507 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCTTCCTGTTCAGTGCCTGCT 0.597000 11 73 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36662064 36662064 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:36662064G>A ENST00000319136.4 + 7 1497 c.1230G>A c.(1228-1230)gcG>gcA p.A410A APOL1_ENST00000397278.3_Silent_p.A394A|APOL1_ENST00000397279.4_Silent_p.A394A|APOL1_ENST00000426053.1_Silent_p.A376A|APOL1_ENST00000347595.7_Silent_p.A273A|APOL1_ENST00000422706.1_Silent_p.A394A NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 394 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 TTCTGCAGGCGGACCAAGAAC 0.498000 4 79 0 0 1 0 0 SMUG1 23583 broad.mit.edu 37 12 54576029 54576029 + Nonsense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:54576029G>A ENST00000508394.2 - 3 726 c.664C>T c.(664-666)Cga>Tga p.R222* SMUG1_ENST00000401977.2_Nonsense_Mutation_p.R222*|SMUG1_ENST00000337581.3_Nonsense_Mutation_p.R222*|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000506595.1_Intron NM_001243787.1|NM_001243788.1|NM_014311.2 NP_001230716.1|NP_001230717.1|NP_055126.1 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 222 depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 AGAGCCCGTCGTGCCCGCTGC 0.672000 Base excision repair (BER), DNA glycosylases 24 38 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53562351 53562351 + Missense_Mutation SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:53562351T>C ENST00000342160.3 - 80 13100 c.12643A>G c.(12643-12645)Atg>Gtg p.M4215V HUWE1_ENST00000262854.6_Missense_Mutation_p.M4215V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4215 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTACCTGTCATTCTCATCTGG 0.438000 8 51 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083443 44083443 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:44083443G>A ENST00000262726.7 - 11 1303 c.1050C>T c.(1048-1050)acC>acT p.T350T EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Silent_p.T198T NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TGATTTTAGTGGTGGCTTTAA 0.328000 34 101 0 0 1 0 0 PXN 5829 broad.mit.edu 37 12 120653789 120653789 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:120653789G>A ENST00000397506.3 - 3 1120 c.67C>T c.(67-69)Cca>Tca p.P23S PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000424649.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron P49023 PAXI_HUMAN paxillin 100 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCCTTCTGGAGTGGCTTCT 0.632000 3 17 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 50 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46717512 46717512 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr13:46717512G>T ENST00000398576.2 - 15 1669 c.1281C>A c.(1279-1281)ttC>ttA p.F427L LCP1_ENST00000323076.2_Missense_Mutation_p.F427L P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 427 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CATAGAGCTGGAAGATGACCA 0.418000 T BCL6 NHL 7 93 8.12818e-05 8.39588e-05 1 1 0 TAS2R40 259286 broad.mit.edu 37 7 142919262 142919262 + Missense_Mutation SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:142919262A>G ENST00000408947.3 + 1 133 c.91A>G c.(91-93)Act>Gct p.T31A AC073342.1_ENST00000595842.1_Silent_p.S33S NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 31 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) AGAGTGCATCACTGGCATCCT 0.512000 15 89 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10023851 10023851 + Missense_Mutation SNP A A T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr20:10023851A>T ENST00000378380.3 + 3 757 c.428A>T c.(427-429)aAc>aTc p.N143I SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.N143I|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GCAGATGTCAACAATTCTACC 0.408000 72 100 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95768696 95768696 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:95768696G>A ENST00000311106.3 - 1 288 c.51C>T c.(49-51)tgC>tgT p.C17C CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 17 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CACACCAAGCGCAAAAGAGGA 0.557000 37 139 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138437534 138437534 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:138437534C>A ENST00000310018.2 - 11 1147 c.865G>T c.(865-867)Gct>Tct p.A289S ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A289S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A289S NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 289 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 CAGTTGGCAGCGGCTTCCTGC 0.502000 26 62 1.39806e-14 1.512e-14 1 1 0 UBTF 7343 broad.mit.edu 37 17 42289000 42289000 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:42289000C>A ENST00000302904.4 - 10 1513 c.1021G>T c.(1021-1023)Gac>Tac p.D341Y UBTF_ENST00000343638.5_Missense_Mutation_p.D304Y|UBTF_ENST00000526094.1_Missense_Mutation_p.D304Y|UBTF_ENST00000436088.1_Missense_Mutation_p.D341Y|UBTF_ENST00000393606.3_Missense_Mutation_p.D304Y|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.D304Y|UBTF_ENST00000527034.1_Missense_Mutation_p.D304Y|UBTF_ENST00000529383.1_Missense_Mutation_p.D341Y P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 341 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) TGATAGGCGTCCTTCTCCTTC 0.582000 12 139 3.07112e-06 3.21071e-06 1 1 0 ATP6V0C 527 broad.mit.edu 37 16 2569364 2569364 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:2569364C>G ENST00000564543.1 + 2 1228 c.1111C>G c.(1111-1113)Cat>Gat p.H371D ATP6V0C_ENST00000565223.1_Silent_p.L32L|ATP6V0C_ENST00000330398.4_Silent_p.L75L|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.L32L|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.H58D TGGCAGTCCTCATCGCCAACT 0.622000 6 74 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043143 184043143 + Silent SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr3:184043143C>T ENST00000342981.4 + 18 3360 c.2946C>T c.(2944-2946)gaC>gaT p.D982D EIF4G1_ENST00000434061.2_Silent_p.D786D|EIF4G1_ENST00000352767.3_Silent_p.D988D|EIF4G1_ENST00000441154.1_Silent_p.D818D|EIF4G1_ENST00000392537.2_Silent_p.D894D|EIF4G1_ENST00000424196.1_Silent_p.D988D|EIF4G1_ENST00000319274.6_Silent_p.D981D|EIF4G1_ENST00000382330.3_Silent_p.D988D|EIF4G1_ENST00000411531.1_Silent_p.D942D|EIF4G1_ENST00000346169.2_Silent_p.D981D|EIF4G1_ENST00000427845.1_Silent_p.D895D|EIF4G1_ENST00000414031.1_Silent_p.D941D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Silent_p.D817D|EIF4G1_ENST00000435046.2_Silent_p.D785D NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 981 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCTGCAGGACGTGCTGGATC 0.522000 38 195 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30775583 30775583 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:30775583G>A ENST00000324685.6 + 5 961 c.526G>A c.(526-528)Gag>Aag p.E176K RNF40_ENST00000357890.5_Missense_Mutation_p.E176K|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.E176K NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 176 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) CAGCAGTGAGGAGGTGGAGCT 0.627000 4 17 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339447 131339447 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:131339447G>A ENST00000372739.3 + 7 935 c.825G>A c.(823-825)gaG>gaA p.E275E SPTAN1_ENST00000372731.4_Silent_p.E275E|SPTAN1_ENST00000358161.5_Silent_p.E275E NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 275 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AGGAAAAGGAGCAGTTAATGG 0.488000 27 213 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169072 113169072 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:113169072G>T ENST00000401783.2 - 38 9144 c.8808C>A c.(8806-8808)aaC>aaA p.N2936K SVEP1_ENST00000374469.1_Missense_Mutation_p.N2913K|SVEP1_ENST00000297826.5_Missense_Mutation_p.N862K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2936 Sushi 25. 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 CTGCATCCCAGTTGCCATCTG 0.493000 218 98 2.91285e-89 3.21065e-89 1 1 0 UPF1 5976 broad.mit.edu 37 19 18974385 18974385 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:18974385C>G ENST00000262803.5 + 19 3011 c.2739C>G c.(2737-2739)ttC>ttG p.F913L UPF1_ENST00000599848.1_Missense_Mutation_p.F924L NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 924 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TCATGCAGTTCAGCAAGCCAC 0.592000 9 56 0 0 1 0 0 FXYD5 53827 broad.mit.edu 37 19 35657174 35657174 + Missense_Mutation SNP C C T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr19:35657174C>T ENST00000342879.3 + 7 1211 c.433C>T c.(433-435)Cgg>Tgg p.R145W FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 145 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCTCCGGAAACGGGGGCTGTT 0.552000 91 221 0 0 1 0 0 IGLV3-21 28796 broad.mit.edu 37 22 23055573 23055573 + RNA SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:23055573G>A ENST00000390308.2 + 0 487 ATCCCTGAGCGATTCTCTGGC 0.577000 26 78 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196684847 196684847 + Silent SNP T T A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:196684847T>A ENST00000367429.4 + 11 1884 c.1644T>A c.(1642-1644)acT>acA p.T548T NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 548 Sushi 9. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 GAAGCACCACTGGTTCCATAG 0.353000 6 190 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095546 178095546 + Silent SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr2:178095546G>A ENST00000397062.3 - 5 2339 c.1785C>T c.(1783-1785)ccC>ccT p.P595P NFE2L2_ENST00000397063.4_Silent_p.P579P|NFE2L2_ENST00000464747.1_Silent_p.P579P|NFE2L2_ENST00000446151.2_Silent_p.P572P NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 595 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCTTACTTTTGGGAACAAGGA 0.373000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 10 148 0 0 1 0 0 HNRNPR 10236 broad.mit.edu 37 1 23645003 23645003 + Silent SNP T T C TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:23645003T>C ENST00000478691.1 - 7 967 c.696A>G c.(694-696)gaA>gaG p.E232E HNRNPR_ENST00000427764.2_Silent_p.E292E|HNRNPR_ENST00000426846.2_Silent_p.E170E|HNRNPR_ENST00000606561.1_Silent_p.E191E|HNRNPR_ENST00000374612.1_Silent_p.E330E|HNRNPR_ENST00000374616.3_Silent_p.E333E|HNRNPR_ENST00000302271.6_Silent_p.E330E NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 330 RRM 1. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GATCTGGTTCTTCCACAGGGT 0.428000 76 52 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51240332 51240332 + Missense_Mutation SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr15:51240332G>A ENST00000261842.5 + 11 1398 c.1292G>A c.(1291-1293)gGc>gAc p.G431D AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 431 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) AATTTGGTCGGCAAAATAGCA 0.338000 4 72 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92543192 92543192 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:92543192C>G ENST00000298047.6 + 12 9448 c.9431C>G c.(9430-9432)aCa>aGa p.T3144R FAT3_ENST00000525166.1_Missense_Mutation_p.T2994R|FAT3_ENST00000409404.2_Missense_Mutation_p.T3144R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3144 Cadherin 29. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATGAGAACACAGCCACCAAG 0.507000 TCGA Ovarian(4;0.039) 51 29 0 0 1 0 0 INPP5E 56623 broad.mit.edu 37 9 139333155 139333155 + Silent SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:139333155C>A ENST00000371712.3 - 1 1119 c.717G>T c.(715-717)ccG>ccT p.P239P NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 239 13 X 4 AA repeats of P-X-X-P. cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGGGGCTCCGCGGCCGGCCGG 0.687000 6 20 0.00116845 0.00119264 1 1 0 OR10A5 144124 broad.mit.edu 37 11 6867255 6867255 + Silent SNP C C T rs150623430 byFrequency TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr11:6867255C>T ENST00000299454.4 + 1 373 c.342C>T c.(340-342)ttC>ttT p.F114F OR10A5_ENST00000379831.2_Silent_p.F118F Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGAATGCTTCCTCCTGGCTA 0.532000 18 124 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110763396 110763396 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:110763396C>G ENST00000451085.1 + 4 1614 c.568C>G c.(568-570)Cta>Gta p.L190V IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L190V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000415362.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 190 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) TCTTCCAAATCTAGAGATTCT 0.373000 18 105 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106524653 106524653 + Silent SNP A A G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr7:106524653A>G ENST00000359195.3 + 9 3124 c.2814A>G c.(2812-2814)gcA>gcG p.A938A PIK3CG_ENST00000496166.1_Silent_p.A938A|PIK3CG_ENST00000440650.2_Silent_p.A938A NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 938 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACTGTGTGGCAACCTTTGTTC 0.358000 27 148 0 0 1 0 0 GMEB1 10691 broad.mit.edu 37 1 29040842 29040842 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr1:29040842C>A ENST00000373816.1 + 10 1387 c.1249C>A c.(1249-1251)Ctc>Atc p.L417I GMEB1_ENST00000294409.2_Missense_Mutation_p.L427I|GMEB1_ENST00000361872.4_Missense_Mutation_p.L417I|GMEB1_ENST00000480454.1_3'UTR NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) AGTGGCCACCCTCAGCCAGGG 0.577000 4 68 0.00909568 0.00912212 1 1 0 MTAP 4507 broad.mit.edu 37 9 21861974 21861974 + Splice_Site SNP G G A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:21861974G>A ENST00000380172.4 + 8 1019 c.e8-1 RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Splice_Site|MTAP_ENST00000580900.1_Intron NM_002451.3 NP_002442.2 Q13126 MTAP_HUMAN methylthioadenosine phosphorylase nucleoside metabolic process cytoplasm phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) CTTCCTTTCAGAATATGGCCC 0.353000 26 155 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36103497 36103497 + Missense_Mutation SNP C C A TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:36103497C>A ENST00000378660.1 + 5 671 c.483C>A c.(481-483)gaC>gaA p.D161E CHDC2_ENST00000313548.4_Missense_Mutation_p.D161E calponin homology domain containing 2 GACAGAATGACTTTTCCAAAT 0.343000 19 75 1.96895e-08 2.09011e-08 1 1 0 LMBRD2 92255 broad.mit.edu 37 5 36122429 36122431 + In_Frame_Del DEL GGC GGC - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr5:36122429_36122431delGGC ENST00000296603.4 - 9 1533_1535 c.1071_1073delGCC c.(1069-1074)tca>tc p.SP357del NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 357 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCTGGCTCTGGCGATTGAAAGG 0.300 12 104 --- --- --- --- PDCD2 5134 broad.mit.edu 37 6 170888047 170888048 + Frame_Shift_Ins INS - - T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr6:170888047_170888048insT ENST00000541970.1 - 5 851_852 c.773_774insA c.(772-774)tggfs p.W258fs PDCD2_ENST00000392090.2_Frame_Shift_Ins_p.W225fs|PDCD2_ENST00000542896.1_Frame_Shift_Ins_p.W258fs NM_001199462.1|NM_002598.3 NP_001186391.1|NP_002589.2 Q16342 PDCD2_HUMAN programmed cell death 2 258 apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(5) 9 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) TACCTCTGCCATATCTAAGAAT 0.376 13 108 --- --- --- --- MTMR7 9108 broad.mit.edu 37 8 17206567 17206569 + In_Frame_Del DEL TTC TTC - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:17206567_17206569delTTC ENST00000180173.5 - 5 524_526 c.490_492delGAA c.(490-492)del p.E164del MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_In_Frame_Del_p.E164del NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 164 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GAACGTACAGTTCAGTAGGATAA 0.453 13 210 --- --- --- --- HAS2 3037 broad.mit.edu 37 8 122641022 122641023 + Frame_Shift_Ins INS - - T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr8:122641022_122641023insT ENST00000303924.4 - 2 1095_1096 c.558_559insA c.(556-561)aaggggfs p.KG186fs NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 186 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TTTCCACCCCATTTTTGCATGA 0.465 98 313 --- --- --- --- CAMSAP1 157922 broad.mit.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T rs148250832 byFrequency TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr9:138715799_138715800insT ENST00000389532.4 - 10 1460_1461 c.1396_1397insA c.(1396-1398)cagfs p.Q466fs CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 466 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GACTCACCTGGTTTTTTTTTCT 0.460 5 11 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88767879 88767880 + RNA INS - - T rs71019447 TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr10:88767879_88767880insT ENST00000444431.1 + 0 2711 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding ttttttctttcttttttttttt 0.455 5 1 --- --- --- --- ANKLE2 23141 broad.mit.edu 37 12 133303901 133303901 + Frame_Shift_Del DEL G G - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr12:133303901delG ENST00000539605.1 - 12 9242 c.2558delC c.(2557-2559)ctfs p.P853fs ANKLE2_ENST00000357997.5_Frame_Shift_Del_p.P915fs|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000542657.1_Frame_Shift_Del_p.P270fs|ANKLE2_ENST00000542282.1_Frame_Shift_Del_p.P270fs Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 915 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GTAGCGCCCAGGACTGCCCAG 0.657 2 4 --- --- --- --- ITGAL 3683 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)ggg>gg p.GL1100del ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1100 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 7 295 --- --- --- --- ELP5 23587 broad.mit.edu 37 17 7157966 7157966 + Frame_Shift_Del DEL G G - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr17:7157966delG ENST00000574993.1 + 4 518 c.301delG c.(301-303)ggfs p.G102fs ELP5_ENST00000354429.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000396627.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000573657.1_Frame_Shift_Del_p.G102fs|ELP5_ENST00000574255.1_Frame_Shift_Del_p.G102fs|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000396628.2_Frame_Shift_Del_p.G102fs elongator acetyltransferase complex subunit 5 GGCCTTTCCTGGGGGGCCGCT 0.512 9 67 --- --- --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chr22:43525245_43525247delGCT ENST00000216115.2 + 5 480_482 c.417_419delGCT c.(415-420)gcg>gc p.AL139del NM_001197.4 NP_001188.1 Q13323 BIK_HUMAN BCL2-interacting killer (apoptosis-inducing) 139 Leucine-zipper (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1) 5 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.724 7 103 --- --- --- --- MAP3K15 389840 broad.mit.edu 37 X 19416433 19416433 + Frame_Shift_Del DEL C C - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:19416433delC ENST00000338883.4 - 15 1976 c.1977delG c.(1975-1977)ggfs p.G659fs MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.G491fs|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.G94fs NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 659 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) ACGTGCCTTTCCCCAAGACAA 0.463 29 202 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303851 151303851 + Frame_Shift_Del DEL G G - TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66fbf537-8f7d-496c-9532-da3794671124 96e888d8-e882-4837-b411-0cd785fe2408 g.chrX:151303851delG ENST00000370323.4 - 4 558 c.242delC c.(241-243)cafs p.P81fs RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Frame_Shift_Del_p.P81fs NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 81 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) GGGAGGATTTGGTGTCTCATC 0.537 29 187 --- --- --- ---