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 ST18 9705 broad.mit.edu 37 8 53084452 53084452 + Silent SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr8:53084452G>T ENST00000276480.7 - 10 1652 c.969C>A c.(967-969)acC>acA p.T323T NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 323 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GCTCTTTGTAGGTGTTATGGA 0.483000 22 151 3.5997e-14 4.83388e-14 0.014323 1 0 UNC13C 440279 broad.mit.edu 37 15 54557651 54557651 + Missense_Mutation SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr15:54557651A>G ENST00000545554.1 + 9 3775 c.3775A>G c.(3775-3777)Att>Gtt p.I1259V UNC13C_ENST00000260323.11_Missense_Mutation_p.I1259V|UNC13C_ENST00000537900.1_Missense_Mutation_p.I1257V Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1259 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AACAAAAACCATTTTTGGAAA 0.308000 3 13 0 0 0.004672 0 0 MATR3 9782 broad.mit.edu 37 5 138643962 138643962 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:138643962G>A ENST00000394800.2 + 6 1407 c.858G>A c.(856-858)ccG>ccA p.P286P MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Silent_p.P286P|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394805.3_Silent_p.P286P|MATR3_ENST00000361059.2_Silent_p.P286P|MATR3_ENST00000510056.1_Silent_p.P286P|MATR3_ENST00000509990.1_Silent_p.P286P|MATR3_ENST00000503811.1_Intron P43243 MATR3_HUMAN matrin 3 286 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) GACTCTTACCGAAGGGTTATC 0.428000 104 327 0 0 0.014410 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236705 140236705 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:140236705G>T ENST00000307360.5 + 1 1072 c.1072G>T c.(1072-1074)Gtg>Ttg p.V358L PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V358L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTCTCCCAGTGAAAGAAGA 0.507000 9 7 1.76689e-08 2.08653e-08 0.006214 1 0 ASXL3 80816 broad.mit.edu 37 18 31324856 31324856 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr18:31324856G>T ENST00000269197.5 + 12 5044 c.5044G>T c.(5044-5046)Gac>Tac p.D1682Y NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1682 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTTTAGAATGGACACTGAAGA 0.488000 11 40 9.70103e-10 1.20621e-09 0.008291 1 0 IL3RA 3563 broad.mit.edu 37 X 1499950 1499950 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:1499950C>G ENST00000331035.4 + 11 1364 c.1015C>G c.(1015-1017)Cct>Gct p.P339A IL3RA_ENST00000381469.2_Missense_Mutation_p.P261A NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 339 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 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) Sargramostim(DB00020) TCCCCGCATCCCTCACATGAA 0.537000 14 81 0 0 0.004007 0 0 ABCA13 154664 broad.mit.edu 37 7 48315097 48315097 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:48315097G>T ENST00000435803.1 + 17 5858 c.5834G>T c.(5833-5835)aGt>aTt p.S1945I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1945 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTCTGTCCTAGTGGTTCCATA 0.338000 29 117 1.04121e-07 1.21734e-07 0.005443 1 0 EHHADH 1962 broad.mit.edu 37 3 184910074 184910074 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:184910074C>A ENST00000231887.3 - 7 2187 c.2112G>T c.(2110-2112)caG>caT p.Q704H EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 704 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity p.Q704H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GAGGGTTTCCCTGAGAAGCCA 0.463000 37 132 4.44401e-20 6.60977e-20 0.010771 1 0 CYP8B1 1582 broad.mit.edu 37 3 42916064 42916064 + Silent SNP C C G rs147356860 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:42916064C>G ENST00000316161.4 - 1 1569 c.1245G>C c.(1243-1245)cgG>cgC p.R415R KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.R415R|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 415 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) AGTCCACTTTCCGGCTGCCAT 0.562000 33 179 0 0 0.005524 0 0 XIRP1 165904 broad.mit.edu 37 3 39229587 39229587 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:39229587C>G ENST00000340369.3 - 2 1578 c.1350G>C c.(1348-1350)ttG>ttC p.L450F XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.L450F NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 450 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CAATGCTGTCCAAGGGAAGGG 0.557000 70 220 0 0 0.014410 0 0 LOC645752 645752 broad.mit.edu 37 15 78211580 78211580 + RNA SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr15:78211580G>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TCCACCTCCTGCCTCAGGTGT 0.542000 8 43 0.000157383 0.000172024 0.003080 1 0 KIF2B 84643 broad.mit.edu 37 17 51902076 51902076 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:51902076C>A ENST00000268919.4 + 1 1838 c.1682C>A c.(1681-1683)gCa>gAa p.A561E NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 561 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGACATGAGGCACCAAGGATG 0.383000 37 122 3.54909e-21 5.31233e-21 0.011902 1 0 ZNF292 23036 broad.mit.edu 37 6 87967629 87967629 + Missense_Mutation SNP T T G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr6:87967629T>G ENST00000369577.3 + 8 4325 c.4282T>G c.(4282-4284)Tcc>Gcc p.S1428A ZNF292_ENST00000339907.4_Missense_Mutation_p.S1423A NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1428 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) CATGATTCTCTCCACAAATGC 0.418000 21 220 0 0 0.004656 0 0 JPH2 57158 broad.mit.edu 37 20 42788290 42788290 + Silent SNP G G A rs143158930 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr20:42788290G>A ENST00000372980.3 - 2 2009 c.1137C>T c.(1135-1137)atC>atT p.I379I NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 379 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCTGGCGCGCGATAGCAGCGG 0.672000 4 23 0 0 0.009096 0 0 SMC6 79677 broad.mit.edu 37 2 17865019 17865019 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:17865019T>A ENST00000448223.2 - 24 2959 c.2690A>T c.(2689-2691)gAa>gTa p.E897V SMC6_ENST00000381272.4_Missense_Mutation_p.E923V|SMC6_ENST00000351948.4_Missense_Mutation_p.E897V|SMC6_ENST00000402989.1_Missense_Mutation_p.E897V NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 897 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTCTCTTGCTTCTTGGTACTG 0.318000 48 141 0 0 0.014410 0 0 ACBD6 84320 broad.mit.edu 37 1 180257631 180257631 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:180257631T>A ENST00000367595.3 - 8 1403 c.716A>T c.(715-717)gAt>gTt p.D239V ACBD6_ENST00000475338.2_5'UTR NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 239 cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 CTCTACAATATCCAGAAACTC 0.483000 4 33 0 0 0.014758 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 36 0 0 0.004672 0 0 DCC 1630 broad.mit.edu 37 18 50705456 50705456 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr18:50705456C>G ENST00000442544.2 + 9 2159 c.1543C>G c.(1543-1545)Caa>Gaa p.Q515E DCC_ENST00000581580.1_Missense_Mutation_p.Q170E|DCC_ENST00000412726.1_Missense_Mutation_p.Q363E NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 515 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGAGAGTTCTCAACCCATCAA 0.473000 4 75 0 0 0.014758 0 0 ABCB5 340273 broad.mit.edu 37 7 20687597 20687597 + Missense_Mutation SNP A A T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:20687597A>T ENST00000404938.2 + 11 1754 c.1102A>T c.(1102-1104)Agt>Tgt p.S368C ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 552 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CAAGAAACCCAGTATAGATAA 0.313000 17 46 0 0 0.008871 0 0 PLCL2 23228 broad.mit.edu 37 3 17053164 17053164 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:17053164G>T ENST00000418129.2 + 2 2413 c.1948G>T c.(1948-1950)Ggt>Tgt p.G650C PLCL2_ENST00000432376.1_Missense_Mutation_p.G650C|PLCL2_ENST00000396755.2_Missense_Mutation_p.G650C NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 776 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AGGTGCCAAAGGTGATGTGGT 0.458000 15 52 1.99824e-07 2.32468e-07 0.004990 1 0 C2orf78 388960 broad.mit.edu 37 2 74044001 74044001 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:74044001G>C ENST00000409561.1 + 3 2772 c.2651G>C c.(2650-2652)aGa>aCa p.R884T NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 884 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GCCATGAAGAGAAAGGCTCAA 0.493000 6 22 0 0 0.003080 0 0 TFDP3 51270 broad.mit.edu 37 X 132351570 132351570 + Nonsense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:132351570C>A ENST00000310125.4 - 1 806 c.718G>T c.(718-720)Gag>Tag p.E240* NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 240 DCB1 (By similarity).|Involved in negatively regulating E2F activity. transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) CTGACCTGCTCCTCCACATAC 0.483000 40 37 1.48734e-19 2.18453e-19 0.013114 1 0 RAB28 9364 broad.mit.edu 37 4 13462328 13462328 + Missense_Mutation SNP T T C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr4:13462328T>C ENST00000288723.4 - 4 600 c.386A>G c.(385-387)aAt>aGt p.N129S RAB28_ENST00000330852.5_Missense_Mutation_p.N129S|RAB28_ENST00000338176.4_Missense_Mutation_p.N129S NM_004249.3 NP_004240.2 P51157 RAB28_HUMAN RAB28, member RAS oncogene family 129 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 8 CTTACTTTTATTGCCTACCAA 0.398000 64 186 0 0 0.014410 0 0 DCBLD2 131566 broad.mit.edu 37 3 98518498 98518498 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:98518498G>A ENST00000326840.6 - 16 2408 c.2046C>T c.(2044-2046)atC>atT p.I682I DCBLD2_ENST00000326857.9_Silent_p.I696I NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 682 cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 ACATGTCCATGATGATTGGGG 0.522000 29 295 0 0 0.008361 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173891853 173891853 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:173891853G>C ENST00000264111.6 + 25 2608 c.2421G>C c.(2419-2421)aaG>aaC p.K807N RAPGEF4_ENST00000539331.1_Missense_Mutation_p.K655N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.K637N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.K588N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.K655N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.K808N|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.K808N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.K664N Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 808 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATTTTAAAAAGACCACAGCAA 0.358000 14 168 0 0 0.003163 0 0 C2orf78 388960 broad.mit.edu 37 2 74043580 74043580 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:74043580C>T ENST00000409561.1 + 3 2351 c.2230C>T c.(2230-2232)Cgt>Tgt p.R744C NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 744 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCTAGCCTCACGTAGGCCTGC 0.537000 48 186 0 0 0.014410 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146997552 146997552 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:146997552C>T ENST00000265272.5 - 19 2735 c.2268G>A c.(2266-2268)cgG>cgA p.R756R JAKMIP2_ENST00000507386.1_Silent_p.R735R|JAKMIP2_ENST00000333010.6_Silent_p.R714R NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 756 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGCATTTGCCGCCGTAACT 0.458000 5 190 0 0 0.014758 0 0 ASXL3 80816 broad.mit.edu 37 18 31324855 31324855 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr18:31324855G>T ENST00000269197.5 + 12 5043 c.5043G>T c.(5041-5043)atG>atT p.M1681I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1681 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCTTTAGAATGGACACTGAAG 0.483000 11 40 5.16669e-11 6.59876e-11 0.010729 1 0 KRT14 3861 broad.mit.edu 37 17 39739372 39739372 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:39739372G>A ENST00000167586.6 - 7 1381 c.1295C>T c.(1294-1296)tCc>tTc p.S432F NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 432 Interaction with Type I keratins and keratin filaments.|Tail. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CGATCCAGAGGAGAACTGGGA 0.577000 11 55 0 0 0.010729 0 0 DRD1 1812 broad.mit.edu 37 5 174869675 174869675 + Missense_Mutation SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:174869675A>G ENST00000393752.2 - 2 1420 c.428T>C c.(427-429)cTg>cCg p.L143P NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 143 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CACACTGATCAGGATGAAGGC 0.537000 3 95 0 0 0.009096 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335048 42335048 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:42335048C>T ENST00000262418.6 - 12 1565 c.1410G>A c.(1408-1410)gtG>gtA p.V470V NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 470 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CTTCCTCAAACACCAGCAGGG 0.617000 10 19 0 0 0.008291 0 0 OR10G2 26534 broad.mit.edu 37 14 22102088 22102088 + Missense_Mutation SNP A A T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:22102088A>T ENST00000542433.1 - 1 1008 c.911T>A c.(910-912)cTg>cAg p.L304Q NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TATCCTCTTCAGGGCAGACTT 0.473000 17 86 0 0 0.010504 0 0 RELN 5649 broad.mit.edu 37 7 103275910 103275910 + Silent SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:103275910G>T ENST00000428762.1 - 19 2586 c.2427C>A c.(2425-2427)ctC>ctA p.L809L RELN_ENST00000343529.5_Silent_p.L809L|RELN_ENST00000424685.2_Silent_p.L809L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 809 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AATGCTCCAGGAGTTTCCAAG 0.428000 48 143 7.34454e-26 1.13551e-25 0.014410 1 0 NMS 129521 broad.mit.edu 37 2 101098755 101098755 + Missense_Mutation SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:101098755A>G ENST00000376865.1 + 9 438 c.431A>G c.(430-432)aAc>aGc p.N144S NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S 144 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 AATGGAAGAAACATTGAAGAT 0.423000 33 184 0 0 0.005524 0 0 CFHR5 81494 broad.mit.edu 37 1 196965270 196965270 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:196965270G>T ENST00000367414.5 + 6 1037 c.981G>T c.(979-981)atG>atT p.M327I CFHR5_ENST00000256785.4_Missense_Mutation_p.M303I NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 303 complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AATATGCAATGATTGGAAATA 0.368000 40 196 8.16277e-20 1.20645e-19 0.006999 1 0 CREBBP 1387 broad.mit.edu 37 16 3778569 3778569 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr16:3778569G>A ENST00000262367.5 - 31 7288 c.6479C>T c.(6478-6480)gCg>gTg p.A2160V CREBBP_ENST00000382070.3_Missense_Mutation_p.A2122V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 2160 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCCTCCCATCGCCTGCTGCTG 0.612000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 7 15 0 0 0.003080 0 0 KTN1 3895 broad.mit.edu 37 14 56101267 56101267 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:56101267T>A ENST00000416613.1 + 8 1424 c.1352T>A c.(1351-1353)cTa>cAa p.L451Q KTN1_ENST00000395308.1_Missense_Mutation_p.L451Q|KTN1_ENST00000395309.3_Missense_Mutation_p.L451Q|KTN1_ENST00000438792.2_Missense_Mutation_p.L451Q|KTN1_ENST00000395311.1_Missense_Mutation_p.L451Q|KTN1_ENST00000395314.3_Missense_Mutation_p.L451Q|KTN1_ENST00000413890.2_Missense_Mutation_p.L451Q Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 451 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 CTAAATAAACTACGCCAGGAT 0.383000 T RET papillary thryoid 34 97 0 0 0.006999 0 0 FLNA 2316 broad.mit.edu 37 X 153587758 153587758 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:153587758C>A ENST00000422373.1 - 25 4407 c.4159G>T c.(4159-4161)Ggc>Tgc p.G1387C FLNA_ENST00000360319.4_Missense_Mutation_p.G1387C|FLNA_ENST00000344736.4_Missense_Mutation_p.G1387C|FLNA_ENST00000369850.3_Missense_Mutation_p.G1387C NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1387 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) AGGCCCAGGCCGCCCGTGCCA 0.652000 7 6 8.12818e-05 8.96772e-05 0.001984 1 0 MDGA2 161357 broad.mit.edu 37 14 47389255 47389255 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:47389255G>T ENST00000426342.1 - 10 2050 c.1304C>A c.(1303-1305)gCa>gAa p.A435E MDGA2_ENST00000399232.2_Missense_Mutation_p.A733E|MDGA2_ENST00000357362.3_Missense_Mutation_p.A435E|MDGA2_ENST00000439988.2_Missense_Mutation_p.A664E NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 664 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CCGATCCACTGCATCAGGATT 0.428000 24 93 8.58068e-18 1.23709e-17 0.007291 1 0 HEATR1 55127 broad.mit.edu 37 1 236762789 236762789 + Silent SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:236762789T>A ENST00000366582.3 - 4 609 c.495A>T c.(493-495)ccA>ccT p.P165P HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.P165P NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 165 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATACCTTAACTGGCAACAACC 0.353000 10 83 0 0 0.013537 0 0 COL7A1 1294 broad.mit.edu 37 3 48604138 48604138 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:48604138C>A ENST00000328333.8 - 111 8366 c.8259G>T c.(8257-8259)gtG>gtT p.V2753V COL7A1_ENST00000454817.1_Silent_p.V2721V NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2753 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGGAGCCCCCACCACTCTCT 0.637000 35 78 1.66251e-12 2.17049e-12 0.014410 1 0 C15orf41 84529 broad.mit.edu 37 15 37100680 37100680 + Silent SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr15:37100680G>T ENST00000563167.1 + 2 318 c.159G>T c.(157-159)ctG>ctT p.L53L C15orf41_ENST00000562489.1_3'UTR|C15orf41_ENST00000569302.1_3'UTR|C15orf41_ENST00000567389.1_3'UTR|C15orf41_ENST00000566621.1_3'UTR|C15orf41_ENST00000437989.2_3'UTR|C15orf41_ENST00000565792.1_3'UTR|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000338183.4_3'UTR Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 0 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) AAGAGAAGCTGGGAGGAAAAG 0.507000 7 14 0.000157383 0.000172024 0.003080 1 0 SCN2A 6326 broad.mit.edu 37 2 166179748 166179748 + Missense_Mutation SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:166179748A>G ENST00000375437.2 + 12 2044 c.1754A>G c.(1753-1755)aAg>aGg p.K585R SCN2A_ENST00000375427.2_Missense_Mutation_p.K585R|SCN2A_ENST00000357398.3_Missense_Mutation_p.K585R|SCN2A_ENST00000283256.6_Missense_Mutation_p.K585R NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 585 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GGTCGAGCAAAGGACATTGGC 0.498000 39 114 0 0 0.010771 0 0 NCOA6 23054 broad.mit.edu 37 20 33334660 33334660 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr20:33334660G>A ENST00000374796.2 - 11 5435 c.2865C>T c.(2863-2865)aaC>aaT p.N955N NCOA6_ENST00000359003.2_Silent_p.N955N Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 955 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. N -> S (in dbSNP:rs17092079). brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AGTTATCCAAGTTAATTCCTT 0.413000 6 162 0 0 0.001984 0 0 CYYR1 116159 broad.mit.edu 37 21 27840897 27840897 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr21:27840897G>A ENST00000299340.4 - 4 731 c.388C>T c.(388-390)Cct>Tct p.P130S AP001596.6_ENST00000429340.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000444306.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000421771.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 130 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GAGTATGGAGGAGGCAAGTCT 0.512000 8 322 0 0 0.006214 0 0 FLT1 2321 broad.mit.edu 37 13 28877390 28877390 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr13:28877390G>T ENST00000282397.4 - 30 4182 c.3931C>A c.(3931-3933)Cac>Aac p.H1311N FLT1_ENST00000543394.1_Missense_Mutation_p.H334N|FLT1_ENST00000540678.1_Missense_Mutation_p.H529N NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1311 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGCTCAGCGTGGTCGTAGGTG 0.577000 55 226 8.52529e-16 1.18547e-15 0.014410 1 0 CDH9 1007 broad.mit.edu 37 5 26906096 26906096 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:26906096G>A ENST00000231021.4 - 5 955 c.783C>T c.(781-783)gtC>gtT p.V261V NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 261 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GGTTGTTGTTGACATCTGTCA 0.448000 91 294 0 0 0.014410 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538273 27538273 + RNA SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr10:27538273G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TTTGAATGCTGAGCCCGACCC 0.517000 23 49 1.22574e-08 1.46217e-08 0.014323 1 0 EIF5B 9669 broad.mit.edu 37 2 99995879 99995879 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:99995879G>A ENST00000289371.5 + 12 2251 c.2049G>A c.(2047-2049)aaG>aaA p.K683K NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 683 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AACAGACTAAGATGATTAAAA 0.348000 4 101 0 0 0.009096 0 0 SQRDL 58472 broad.mit.edu 37 15 45965940 45965940 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr15:45965940G>T ENST00000260324.7 + 5 981 c.595G>T c.(595-597)Gtg>Ttg p.V199L SQRDL_ENST00000568606.1_Missense_Mutation_p.V199L|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.V199L NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 199 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) AAATACTCCAGTGAAGTGTGC 0.473000 17 64 3.99206e-14 5.3303e-14 0.007413 1 0 CYB5R4 51167 broad.mit.edu 37 6 84645991 84645991 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr6:84645991C>T ENST00000369681.4 + 12 1144 c.1004C>T c.(1003-1005)tCa>tTa p.S335L CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 335 FAD-binding FR-type. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) TCCTTACTCTCAGAGTTCAAG 0.338000 14 78 0 0 0.003163 0 0 DSC2 1824 broad.mit.edu 37 18 28672144 28672144 + Missense_Mutation SNP T T C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr18:28672144T>C ENST00000280904.6 - 3 717 c.274A>G c.(274-276)Aga>Gga p.R92G DSC2_ENST00000251081.6_Missense_Mutation_p.R92G NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 92 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GTAAAACTTCTCTTCTCCGAG 0.338000 29 121 0 0 0.007291 0 0 ZFR 51663 broad.mit.edu 37 5 32387678 32387678 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:32387678C>G ENST00000265069.8 - 14 2578 c.2476G>C c.(2476-2478)Gaa>Caa p.E826Q NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 826 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) GGTAGGTTTTCTGCAATACGG 0.408000 25 246 0 0 0.007291 0 0 DOK1 1796 broad.mit.edu 37 2 74783996 74783996 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:74783996C>T ENST00000233668.5 + 5 1870 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.P262S NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 401 Pro-rich. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CTATGAGCTCCCCTACAACCC 0.647000 35 132 0 0 0.019004 0 0 MPL 4352 broad.mit.edu 37 1 43805736 43805736 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:43805736C>A ENST00000372470.3 + 5 834 c.792C>A c.(790-792)tcC>tcA p.S264S MPL_ENST00000413998.2_Silent_p.S264S NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 264 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATGGGATCTCCCTCGGTGGCT 0.592000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 20 41 1.96292e-10 2.46677e-10 0.010504 1 0 ATP2B3 492 broad.mit.edu 37 X 152826267 152826267 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:152826267C>T ENST00000370186.1 + 17 3257 c.2931C>T c.(2929-2931)caC>caT p.H977H ATP2B3_ENST00000349466.2_Silent_p.H991H|ATP2B3_ENST00000359149.3_Silent_p.H991H|ATP2B3_ENST00000370181.2_Silent_p.H977H|ATP2B3_ENST00000263519.4_Silent_p.H991H|ATP2B3_ENST00000393842.1_Silent_p.H977H|ATP2B3_ENST00000460549.1_3'UTR Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 991 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAAGATCCACGGCGAGAGGA 0.562000 7 50 0 0 0.003080 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 4 181 0 0 0.014758 0 0 ARMC5 79798 broad.mit.edu 37 16 31473869 31473869 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr16:31473869G>A ENST00000457010.2 + 3 1702 c.1001G>A c.(1000-1002)cGc>cAc p.R334H ARMC5_ENST00000563544.1_Missense_Mutation_p.R334H|ARMC5_ENST00000538189.1_Missense_Mutation_p.R366H|ARMC5_ENST00000408912.3_Missense_Mutation_p.R429H|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.R334H NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 334 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CTCCGGCAGCGCCGGGATCCT 0.647000 8 38 0 0 0.008291 0 0 HEMGN 55363 broad.mit.edu 37 9 100700349 100700349 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr9:100700349G>T ENST00000259456.3 - 2 213 c.70C>A c.(70-72)Cat>Aat p.H24N NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 24 Necessary for nuclear localization. cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) CCTGGAGAATGGTTCTCTTCT 0.408000 60 227 2.23399e-28 3.49992e-28 0.014410 1 0 F13B 2165 broad.mit.edu 37 1 197009738 197009738 + Silent SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:197009738T>A ENST00000367412.1 - 11 1909 c.1866A>T c.(1864-1866)ccA>ccT p.P622P F13B_ENST00000490002.1_5'UTR NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 622 Sushi 10. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 ATAATTCAGCTGGATAAGTAT 0.313000 27 166 0 0 0.004656 0 0 EHBP1 23301 broad.mit.edu 37 2 63101642 63101642 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:63101642G>T ENST00000263991.5 + 11 1747 c.1265G>T c.(1264-1266)gGa>gTa p.G422V EHBP1_ENST00000405015.3_Missense_Mutation_p.G387V|EHBP1_ENST00000354487.3_Missense_Mutation_p.G387V|EHBP1_ENST00000431489.1_Missense_Mutation_p.G387V|EHBP1_ENST00000405289.1_Missense_Mutation_p.G387V NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 422 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GTTTCTGCAGGAAAAGATCTC 0.373000 25 435 1.17739e-12 1.54574e-12 0.005443 1 0 DNAJC6 9829 broad.mit.edu 37 1 65860662 65860662 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:65860662C>T ENST00000395325.3 + 13 1971 c.1814C>T c.(1813-1815)gCt>gTt p.A605V DNAJC6_ENST00000371069.4_Missense_Mutation_p.A662V|DNAJC6_ENST00000263441.7_Missense_Mutation_p.A592V NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 605 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 ACATCCAGTGCTTCCAGTGAC 0.438000 158 530 0 0 0.014410 0 0 EXTL3 2137 broad.mit.edu 37 8 28574377 28574377 + Silent SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr8:28574377G>T ENST00000220562.4 + 3 1703 c.801G>T c.(799-801)cgG>cgT p.R267R EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 267 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CACACTGGCGGACGGATGGAC 0.547000 16 42 1.50039e-11 1.94802e-11 0.012319 1 0 IQCB1 9657 broad.mit.edu 37 3 121509047 121509047 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:121509047C>T ENST00000310864.6 - 11 1216 c.1002G>A c.(1000-1002)aaG>aaA p.K334K IQCB1_ENST00000349820.6_Silent_p.K201K NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 334 IQ 2. cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) CCAGCAACATCTTTGATCGTT 0.353000 40 367 0 0 0.014410 0 0 IGSF10 285313 broad.mit.edu 37 3 151163928 151163928 + Nonsense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:151163928C>A ENST00000282466.3 - 4 3840 c.3841G>T c.(3841-3843)Gga>Tga p.G1281* NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1281 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGAAGACTTCCAGGATTGTGT 0.428000 59 194 2.27459e-33 3.66116e-33 0.014410 1 0 HAVCR1 26762 broad.mit.edu 37 5 156479602 156479602 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:156479602G>T ENST00000339252.3 - 3 975 c.443C>A c.(442-444)aCc>aAc p.T148N HAVCR1_ENST00000523175.1_Missense_Mutation_p.T148N|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T148N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T148N|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T148N NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 148 11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGAACAGTGGTGCTCGTTCG 0.478000 167 528 3.86937e-75 6.44895e-75 0.014410 1 0 RPL13AP3 645683 broad.mit.edu 37 14 56233248 56233248 + RNA SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:56233248G>T ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA AAGAAAAAGCGGATGGTGGTT 0.572000 4 9 3.59834e-05 4.04598e-05 0.001168 1 0 KLK5 25818 broad.mit.edu 37 19 51452188 51452188 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:51452188G>T ENST00000336334.3 - 4 871 c.519C>A c.(517-519)aaC>aaA p.N173K KLK5_ENST00000593428.1_Missense_Mutation_p.N173K|KLK5_ENST00000391809.2_Missense_Mutation_p.N173K NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 173 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity p.N173N(1) NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GAGAGGAGACGTTGATGGGTC 0.537000 6 25 4.096e-09 5.01333e-09 0.001168 1 0 EPHA6 285220 broad.mit.edu 37 3 96945208 96945208 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:96945208G>T ENST00000389672.5 + 4 1253 c.1215G>T c.(1213-1215)caG>caT p.Q405H EPHA6_ENST00000470610.2_Missense_Mutation_p.Q405H NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 310 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTGTCTGTCAGTGTGAAAAGG 0.398000 46 168 1.63038e-21 2.45602e-21 0.014410 1 0 TNN 63923 broad.mit.edu 37 1 175053017 175053017 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:175053017G>T ENST00000239462.4 + 5 1293 c.1180G>T c.(1180-1182)Gct>Tct p.A394S NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 394 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACAGGAGGTAGCTGAGGTCAC 0.527000 30 65 1.39806e-14 1.89909e-14 0.008361 1 0 UBC 7316 broad.mit.edu 37 12 125397269 125397269 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:125397269G>A ENST00000536769.1 - 1 2625 c.1049C>T c.(1048-1050)gCc>gTc p.A350V UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V P0CG48 UBC_HUMAN ubiquitin C 350 Ubiquitin-like 5. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTGTTTTCCGGCAAAGATCAA 0.522000 5 255 0 0 0.014758 0 0 CDC23 8697 broad.mit.edu 37 5 137525547 137525547 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:137525547G>A ENST00000394886.2 - 14 1503 c.1473C>T c.(1471-1473)atC>atT p.I491I NM_004661.3 NP_004652.2 Q9UJX2 CDC23_HUMAN cell division cycle 23 491 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|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|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGATATATTTGATGTAACACT 0.368000 7 298 0 0 0.004482 0 0 ALS2CL 259173 broad.mit.edu 37 3 46722809 46722809 + Nonsense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:46722809G>A ENST00000318962.4 - 13 1446 c.1363C>T c.(1363-1365)Cag>Tag p.Q455* ALS2CL_ENST00000415953.1_Nonsense_Mutation_p.Q455* NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 455 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTGAAGGGCTGGGGGGCCTGC 0.662000 21 90 0 0 0.014323 0 0 TTF1 7270 broad.mit.edu 37 9 135278165 135278165 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr9:135278165G>A ENST00000334270.2 - 2 83 c.44C>T c.(43-45)tCt>tTt p.S15F NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 15 N-terminal region (NRD) (By similarity). negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TTTCTTGTCAGAAACTGGAGT 0.353000 5 103 0 0 0.014758 0 0 ATP5B 506 broad.mit.edu 37 12 57039070 57039070 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:57039070C>A ENST00000262030.3 - 2 245 c.195G>T c.(193-195)gcG>gcT p.A65A ATP5B_ENST00000552919.1_Silent_p.A65A NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 65 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CGCCAATGACCGCCACGATGC 0.567000 13 29 2.39187e-15 3.28708e-15 0.008871 1 0 RYR1 6261 broad.mit.edu 37 19 38956834 38956834 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:38956834C>A ENST00000355481.4 + 24 3105 c.2974C>A c.(2974-2976)Cac>Aac p.H992N RYR1_ENST00000359596.3_Missense_Mutation_p.H992N|RYR1_ENST00000360985.3_Missense_Mutation_p.H992N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 992 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGAAAATGGGCACAACGTGTG 0.667000 4 116 0.014758 0.0154827 0.014758 1 0 KIF1A 547 broad.mit.edu 37 2 241683446 241683446 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:241683446T>A ENST00000498729.2 - 33 3743 c.3497A>T c.(3496-3498)gAg>gTg p.E1166V KIF1A_ENST00000320389.7_Missense_Mutation_p.E1065V NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1065 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTTGATGTACTCAATGAAGGA 0.602000 11 28 0 0 0.013537 0 0 RSPH6A 81492 broad.mit.edu 37 19 46299233 46299233 + Missense_Mutation SNP A A T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:46299233A>T ENST00000221538.3 - 6 2190 c.2048T>A c.(2047-2049)gTg>gAg p.V683E RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_Missense_Mutation_p.V419E NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 683 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CTCCTCTTCCACTGTGGGGTC 0.617000 30 97 0 0 0.019004 0 0 PCDH17 27253 broad.mit.edu 37 13 58208640 58208640 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr13:58208640G>T ENST00000377918.3 + 1 1986 c.1960G>T c.(1960-1962)Gac>Tac p.D654Y NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 654 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TTTCTGGGAGGACGTGACGCC 0.647000 17 59 2.35188e-11 3.03677e-11 0.006122 1 0 NPAP1 23742 broad.mit.edu 37 15 24922899 24922899 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr15:24922899C>A ENST00000329468.2 + 1 2359 c.1885C>A c.(1885-1887)Cac>Aac p.H629N NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ATTTATATTCCACAATACCAC 0.498000 13 60 1.5842e-08 1.88024e-08 0.016723 1 0 OR8J3 81168 broad.mit.edu 37 11 55904638 55904638 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr11:55904638G>T ENST00000301529.1 - 1 556 c.557C>A c.(556-558)gCa>gAa p.A186E NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GCAAGATAATGCTAACAGAGG 0.313000 13 59 4.36969e-10 5.46211e-10 0.016723 1 0 CCT6B 10693 broad.mit.edu 37 17 33267604 33267604 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:33267604G>C ENST00000314144.5 - 8 1037 c.922C>G c.(922-924)Cat>Gat p.H308D CCT6B_ENST00000436961.3_Missense_Mutation_p.H263D|CCT6B_ENST00000421975.3_Missense_Mutation_p.H271D NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 308 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) ACTATTCCATGTTTTGCAAGA 0.294000 5 121 0 0 0.001168 0 0 OR8J1 219477 broad.mit.edu 37 11 56128288 56128288 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr11:56128288G>T ENST00000303039.3 + 1 598 c.566G>T c.(565-567)tGc>tTc p.C189F NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C189F(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GCATTATCTTGCTCTGATACT 0.313000 30 112 7.26314e-15 9.92348e-15 0.007291 1 0 TRIP11 9321 broad.mit.edu 37 14 92477354 92477354 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:92477354C>G ENST00000267622.4 - 9 1663 c.1290G>C c.(1288-1290)gaG>gaC p.E430D NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 430 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GTAATGACTTCTCTTTTTCTA 0.378000 T PDGFRB AML 3 78 0 0 0.004672 0 0 SORL1 6653 broad.mit.edu 37 11 121414299 121414299 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr11:121414299C>G ENST00000260197.7 + 13 1857 c.1728C>G c.(1726-1728)ttC>ttG p.F576L SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 576 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CATTCATCTTCTCTGAGAAGC 0.473000 5 247 0 0 0.001168 0 0 OR52R1 119695 broad.mit.edu 37 11 4825678 4825678 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr11:4825678G>C ENST00000380382.1 - 1 169 c.170C>G c.(169-171)aCt>aGt p.T57S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCAAAACAAGTGTTATTATT 0.368000 71 272 0 0 0.014410 0 0 GSDMA 284110 broad.mit.edu 37 17 38127821 38127821 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:38127821C>G ENST00000301659.4 + 5 721 c.603C>G c.(601-603)tgC>tgG p.C201W NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 201 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 CCAAGGGCTGCGTCCTGGCCT 0.468000 27 91 0 0 0.010818 0 0 CACNA1D 776 broad.mit.edu 37 3 53781379 53781379 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:53781379G>T ENST00000288139.3 + 27 3396 c.3278G>T c.(3277-3279)cGt>cTt p.R1093L CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1073L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1073L NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1073 Dihydropyridine binding (By similarity). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCTGTGGTCCGTGAACGGATC 0.527000 28 120 1.12875e-08 1.35335e-08 0.006320 1 0 KIAA1551 55196 broad.mit.edu 37 12 32134983 32134983 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:32134983C>T ENST00000312561.4 + 4 1508 c.1094C>T c.(1093-1095)gCt>gTt p.A365V KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CAGACTCTTGCTCAAACTAAT 0.353000 20 43 0 0 0.008871 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455509 5455509 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:5455509C>T ENST00000222033.4 + 1 84 c.7C>T c.(7-9)Ctc>Ttc p.L3F NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 3 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) ACGCATGCCGCTCTGCCGTCC 0.622000 6 25 0 0 0.001984 0 0 ATAD2 29028 broad.mit.edu 37 8 124368698 124368698 + Nonsense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr8:124368698G>C ENST00000287394.5 - 13 1684 c.1577C>G c.(1576-1578)tCa>tGa p.S526* ATAD2_ENST00000521903.1_De_novo_Start_OutOfFrame NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AAAAATAATTGATGGGCGCAT 0.388000 12 73 0 0 0.003163 0 0 C1orf173 127254 broad.mit.edu 37 1 75072483 75072483 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:75072483C>G ENST00000326665.5 - 10 1509 c.1291G>C c.(1291-1293)Gtg>Ctg p.V431L RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V234L NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 431 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTTTCCTCACTTTCCCCTCA 0.403000 87 325 0 0 0.014410 0 0 NSD1 64324 broad.mit.edu 37 5 176671224 176671224 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:176671224G>A ENST00000439151.2 + 9 4376 c.4331G>A c.(4330-4332)gGc>gAc p.G1444D NSD1_ENST00000354179.4_Missense_Mutation_p.G1175D|NSD1_ENST00000361032.4_Missense_Mutation_p.G1341D|NSD1_ENST00000347982.4_Missense_Mutation_p.G1175D NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1444 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CTGGAGAATGGCATAACTGAA 0.338000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 4 97 0 0 0.014758 0 0 MAP3K15 389840 broad.mit.edu 37 X 19444422 19444422 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:19444422C>A ENST00000338883.4 - 8 1205 c.1206G>T c.(1204-1206)tcG>tcT p.S402S MAP3K15_ENST00000469203.2_Silent_p.S234S|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 402 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) GATTAATTCCCGAATAGAGGG 0.333000 4 9 0.00116845 0.00126537 0.001168 1 0 TAS2R40 259286 broad.mit.edu 37 7 142920108 142920108 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:142920108C>G ENST00000408947.3 + 1 979 c.937C>G c.(937-939)Caa>Gaa p.Q313E NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 313 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) GTTTCAGCACCAAGTTCCTCT 0.542000 37 130 0 0 0.019004 0 0 TCF7L1 83439 broad.mit.edu 37 2 85534779 85534779 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:85534779G>C ENST00000282111.3 + 11 1547 c.1272G>C c.(1270-1272)aaG>aaC p.K424N NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 424 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 AGAAAAAGAAGAGGAAGAGAG 0.532000 16 67 0 0 0.003163 0 0 RADIL 55698 broad.mit.edu 37 7 4917272 4917272 + Nonsense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:4917272C>A ENST00000399583.3 - 2 686 c.499G>T c.(499-501)Gag>Tag p.E167* RADIL_ENST00000536091.1_Nonsense_Mutation_p.E167* NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 167 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCTGCCAGCTCCTCCACGTCC 0.597000 11 36 7.03913e-09 8.52678e-09 0.013537 1 0 MMS19 64210 broad.mit.edu 37 10 99240761 99240761 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr10:99240761C>A ENST00000438925.2 - 3 535 c.200G>T c.(199-201)cGa>cTa p.R67L MMS19_ENST00000327238.10_Missense_Mutation_p.R67L|MMS19_ENST00000355839.6_Missense_Mutation_p.R67L|MMS19_ENST00000370782.2_Missense_Mutation_p.R67L|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR NM_022362.4 NP_071757.4 Q96T76 MMS19_HUMAN MMS19 nucleotide excision repair homolog (S. cerevisiae) 67 chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay) cytoplasm|holo TFIIH complex|MMXD complex estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1) 16 Colorectal(252;0.0846) Epithelial(162;3.33e-10)|all cancers(201;2.74e-08) CTGGATTGCTCGTGCCCGAGT 0.473000 Direct reversal of damage 5 14 8.12818e-05 8.96772e-05 0.001984 1 0 OR2W3 343171 broad.mit.edu 37 1 248059047 248059047 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:248059047C>A ENST00000537741.1 + 3 416 c.159C>A c.(157-159)ccC>ccA p.P53P OR2W3_ENST00000360358.3_Silent_p.P53P Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCTGGACCCCCACCTCCACA 0.582000 138 320 4.58859e-59 7.5938e-59 0.014410 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140730889 140730889 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:140730889G>T ENST00000523390.1 + 1 1062 c.1062G>T c.(1060-1062)gaG>gaT p.E354D PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATTCCAGAGGATTCAGACC 0.433000 4 12 0.014758 0.0154827 0.014758 1 0 MYT1L 23040 broad.mit.edu 37 2 1926086 1926086 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:1926086G>C ENST00000399161.2 - 10 2202 c.1455C>G c.(1453-1455)agC>agG p.S485R MYT1L_ENST00000428368.2_Missense_Mutation_p.S485R NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 485 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTTTGACATGGCTGTCACTGG 0.463000 16 50 0 0 0.004990 0 0 ZNF256 10172 broad.mit.edu 37 19 58452654 58452654 + Nonsense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:58452654G>A ENST00000282308.3 - 3 1718 c.1522C>T c.(1522-1524)Caa>Taa p.Q508* ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 508 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) CTCTGGTGTTGAAGGAGCGTA 0.448000 6 98 0 0 0.001984 0 0 MTCH1 23787 broad.mit.edu 37 6 36936707 36936707 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr6:36936707G>A ENST00000373627.5 - 12 1266 c.1142C>T c.(1141-1143)tCa>tTa p.S381L MTCH1_ENST00000373616.5_Missense_Mutation_p.S364L|MTCH1_ENST00000471737.1_5'UTR NM_001271641.1 NP_001258570.1 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier 1 381 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 TGATCCTGATGACACCCGGCG 0.572000 7 34 0 0 0.008291 0 0 OR2T27 403239 broad.mit.edu 37 1 248813308 248813308 + Missense_Mutation SNP C C A rs141113411 by1000genomes TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:248813308C>A ENST00000344889.3 - 1 877 c.878G>T c.(877-879)aGg>aTg p.R293M NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCCTTGTTCCTAAGGCTGTA 0.483000 54 48 8.44121e-28 1.3137e-27 0.014410 1 0 P4HA1 5033 broad.mit.edu 37 10 74813242 74813242 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr10:74813242G>A ENST00000412021.2 - 7 903 c.570C>T c.(568-570)gcC>gcT p.A190A P4HA1_ENST00000440381.1_Silent_p.A190A|P4HA1_ENST00000307116.2_Silent_p.A190A|P4HA1_ENST00000263556.3_Silent_p.A190A|P4HA1_ENST00000373008.2_Silent_p.A190A|P4HA1_ENST00000394890.2_Silent_p.A190A NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 190 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GTTGCCTTAGGGCTTGTTCCA 0.438000 21 193 0 0 0.010504 0 0 OSBPL7 114881 broad.mit.edu 37 17 45892693 45892693 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:45892693C>G ENST00000007414.3 - 13 1336 c.1145G>C c.(1144-1146)cGc>cCc p.R382P OSBPL7_ENST00000392507.3_Missense_Mutation_p.R382P NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 382 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GGTGAGCTCGCGCCCCTTCAT 0.627000 5 13 0 0 0.001168 0 0 PKD1L1 168507 broad.mit.edu 37 7 47842873 47842873 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:47842873G>C ENST00000289672.2 - 53 7947 c.7897C>G c.(7897-7899)Caa>Gaa p.Q2633E C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2633 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ATTGTGTTTTGAATGCCAGGA 0.488000 5 69 0 0 0.014758 0 0 CSMD2 114784 broad.mit.edu 37 1 34209071 34209071 + Missense_Mutation SNP G G T rs138506777 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:34209071G>T ENST00000373381.4 - 14 2159 c.1983C>A c.(1981-1983)aaC>aaA p.N661K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 621 CUB 4. integral to membrane|plasma membrane protein binding p.N621N(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGTCAATGTCGTTGAAGGCCA 0.597000 55 158 7.89702e-26 1.21294e-25 0.014410 1 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 3 63 0 0 0.004672 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573910 136573910 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:136573910C>A ENST00000446465.2 + 2 1236 c.608C>A c.(607-609)aCa>aAa p.T203K SLC35G2_ENST00000393079.3_Missense_Mutation_p.T203K|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 203 DUF6 1. Golgi apparatus|integral to membrane GCCACAACTACAGTCTTCAGT 0.398000 36 130 2.87052e-16 4.03935e-16 0.005524 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517161 158517161 + Silent SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:158517161G>T ENST00000302617.3 - 1 734 c.735C>A c.(733-735)acC>acA p.T245T NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T245T(1)|p.T245K(1) NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGGAGGCACAGGTGGAGAATG 0.507000 82 380 3.7744e-50 6.20268e-50 0.014410 1 0 PCDH15 65217 broad.mit.edu 37 10 55582403 55582403 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr10:55582403C>T ENST00000361849.3 - 34 5483 c.5089G>A c.(5089-5091)Gag>Aag p.E1697K PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1672K|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1655K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1692K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1626K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1695K|PCDH15_ENST00000395440.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1695 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AAGGAACACTCAGCAGGAGAA 0.418000 HNSCC(58;0.16) 6 74 0 0 0.001168 0 0 DNAH2 146754 broad.mit.edu 37 17 7735979 7735979 + Missense_Mutation SNP G G T rs138065395 by1000genomes TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:7735979G>T ENST00000572933.1 + 83 14269 c.12809G>T c.(12808-12810)cGg>cTg p.R4270L DNAH2_ENST00000389173.2_Missense_Mutation_p.R4270L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4270 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGGCCAGCCGGGCCCGGCCT 0.602000 17 49 1.37285e-15 1.89777e-15 0.004007 1 0 SIPA1L1 26037 broad.mit.edu 37 14 72055393 72055393 + Silent SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:72055393G>A ENST00000555818.1 + 2 1152 c.804G>A c.(802-804)caG>caA p.Q268Q SIPA1L1_ENST00000381232.3_Silent_p.Q268Q|SIPA1L1_ENST00000358550.2_Silent_p.Q268Q NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 268 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTATCTCACAGAGAGAGAACC 0.443000 32 350 0 0 0.010818 0 0 RNF20 56254 broad.mit.edu 37 9 104319708 104319708 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr9:104319708G>T ENST00000389120.3 + 16 2302 c.2212G>T c.(2212-2214)Gcc>Tcc p.A738S NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 738 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) CACAGGCCAGGCCTTTGAAGA 0.428000 44 170 1.62263e-30 2.57647e-30 0.014410 1 0 TMTC1 83857 broad.mit.edu 37 12 29669419 29669419 + Splice_Site SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:29669419C>A ENST00000256062.5 - 15 2319 c.1845_splice c.e15-1 p.A616_splice TMTC1_ENST00000539277.1_Splice_Site_p.A724_splice|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Splice_Site_p.A786_splice|TMTC1_ENST00000552618.1_Splice_Site_p.A748_splice NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 724 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AAAACCTGAGCCTACAAAACC 0.448000 15 46 4.96729e-08 5.83657e-08 0.008871 1 0 VPS13D 55187 broad.mit.edu 37 1 12439542 12439542 + Splice_Site SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:12439542A>G ENST00000358136.3 + 57 11212 c.11081_splice c.e57-1 p.R3694_splice VPS13D_ENST00000356315.4_Splice_Site_p.R3669_splice|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3693 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) CGTTTTCCAGATACGAGCCAC 0.493000 27 141 0 0 0.004656 0 0 OR7E24 26648 broad.mit.edu 37 19 9361855 9361855 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:9361855G>T ENST00000456448.1 + 1 250 c.136G>T c.(136-138)Gct>Tct p.A46S NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 GCCGGTCCTCGCTGGGCTGTT 0.572000 10 43 6.40141e-05 7.12953e-05 0.010729 1 0 SHCBP1 79801 broad.mit.edu 37 16 46629573 46629573 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr16:46629573C>A ENST00000303383.3 - 10 1621 c.1355G>T c.(1354-1356)cGt>cTt p.R452L NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 452 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) AGTCTTACCACGGTGAACAAC 0.448000 13 82 0.0135373 0.01433 0.013537 1 0 ATP4A 495 broad.mit.edu 37 19 36050730 36050730 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:36050730C>G ENST00000262623.3 - 7 1061 c.1033G>C c.(1033-1035)Gag>Cag p.E345Q NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 345 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) AGCAGCCCCTCAGGCACATAG 0.582000 20 46 0 0 0.010504 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476015 140476015 + Silent SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:140476015G>T ENST00000194155.4 + 1 1789 c.1641G>T c.(1639-1641)gcG>gcT p.A547A NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 547 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGCGAGGCGCTGGTGCGCG 0.711000 8 24 3.07112e-06 3.52055e-06 0.010729 1 0 TMTC3 160418 broad.mit.edu 37 12 88588809 88588809 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:88588809C>T ENST00000266712.6 + 14 2348 c.2128C>T c.(2128-2130)Ctc>Ttc p.L710F NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 711 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 TAATCTGGCTCTCCTGTATTC 0.418000 64 122 0 0 0.014410 0 0 CSF1R 1436 broad.mit.edu 37 5 149460352 149460352 + Silent SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:149460352G>T ENST00000286301.3 - 3 576 c.285C>A c.(283-285)gcC>gcA p.A95A CSF1R_ENST00000543093.1_Silent_p.A95A NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 95 Ig-like C2-type 1. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGTGGATGGCGGCGCTGCCTC 0.587000 10 30 1.58986e-06 1.83146e-06 0.008291 1 0 CYP2C18 1562 broad.mit.edu 37 10 96484123 96484123 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr10:96484123G>C ENST00000285979.6 + 7 1181 c.982G>C c.(982-984)Gaa>Caa p.E328Q CYP2C18_ENST00000339022.5_Missense_Mutation_p.E269Q|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GGAAGAGATTGAATGTGTAGT 0.448000 131 468 0 0 0.014410 0 0 KLHL1 57626 broad.mit.edu 37 13 70535514 70535514 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr13:70535514G>C ENST00000377844.4 - 3 1502 c.743C>G c.(742-744)gCc>gGc p.A248G KLHL1_ENST00000545028.1_Missense_Mutation_p.A55G NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 248 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTCTTGCTTGGCTTCACAAAC 0.413000 25 118 0 0 0.021523 0 0 ALDH3A2 224 broad.mit.edu 37 17 19555060 19555060 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:19555060C>T ENST00000176643.6 + 2 800 c.354C>T c.(352-354)acC>acT p.T118T ALDH3A2_ENST00000339618.4_Silent_p.T118T|ALDH3A2_ENST00000581518.1_Silent_p.T118T|ALDH3A2_ENST00000395575.2_Silent_p.T118T|ALDH3A2_ENST00000579855.1_Silent_p.T118T P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 118 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) TCGTTCTCACCATTCAGCCAC 0.463000 10 33 0 0 0.010729 0 0 CD27 939 broad.mit.edu 37 12 6560159 6560159 + Nonsense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:6560159C>T ENST00000266557.3 + 5 866 c.637C>T c.(637-639)Caa>Taa p.Q213* CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR NM_001242.4 NP_001233.1 P26842 CD27_HUMAN CD27 molecule 213 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 GTTCCTCCATCAACGAAGGAA 0.547000 62 198 0 0 0.014410 0 0 CDH24 64403 broad.mit.edu 37 14 23522740 23522740 + Silent SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:23522740G>C ENST00000397359.3 - 7 1450 c.1191C>G c.(1189-1191)tcC>tcG p.S397S CDH24_ENST00000554034.1_Silent_p.S397S|CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000267383.5_Silent_p.S397S NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 397 Cadherin 4. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) GGTCAGCCGCGGAGATCTGGC 0.637000 4 17 0 0 0.009096 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433080 73433080 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:73433080G>T ENST00000263666.4 - 10 2751 c.2637C>A c.(2635-2637)caC>caA p.H879Q PDZRN3_ENST00000466780.1_Missense_Mutation_p.H536Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H536Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H596Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H601Q NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 879 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AGCTCTGGTAGTGCTGGGCGT 0.642000 16 36 4.7546e-09 5.78928e-09 0.004007 1 0 TNC 3371 broad.mit.edu 37 9 117791722 117791722 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr9:117791722C>T ENST00000350763.4 - 25 6497 c.6086G>A c.(6085-6087)cGc>cAc p.R2029H TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2029 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCCGTTTTTGCGTCTCAGGAA 0.488000 5 247 0 0 0.001168 0 0 ZNF66 7617 broad.mit.edu 37 19 20975389 20975389 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:20975389G>T ENST00000344519.8 + 2 98 c.75G>T c.(73-75)caG>caT p.Q25H ZNF66_ENST00000594534.1_Missense_Mutation_p.Q25H|ZNF66_ENST00000360204.5_Missense_Mutation_p.Q3H|ZNF66_ENST00000425625.1_Missense_Mutation_p.Q71H ACATGGCACAGCGGAATTTAT 0.383000 21 108 3.85864e-22 5.8502e-22 0.016522 1 0 SELE 6401 broad.mit.edu 37 1 169699641 169699641 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:169699641G>T ENST00000333360.7 - 5 786 c.647C>A c.(646-648)cCa>cAa p.P216Q SELE_ENST00000367782.4_Missense_Mutation_p.P216Q|SELE_ENST00000367774.1_Missense_Mutation_p.P216Q|SELE_ENST00000367781.4_Missense_Mutation_p.P216Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.P216Q|SELE_ENST00000367780.4_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.P216Q|SELE_ENST00000367776.1_Missense_Mutation_p.P216Q|SELE_ENST00000367775.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 216 Sushi 1. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CATGCTGCTTGGCAGGTAACC 0.507000 46 208 6.03219e-31 9.6433e-31 0.014410 1 0 ZP4 57829 broad.mit.edu 37 1 238049185 238049185 + Splice_Site SNP G G T rs147732809 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:238049185G>T ENST00000366570.4 - 7 999 c.839_splice c.e7-1 p.L281_splice RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 281 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTGACATGGAGCCTGCAGAGA 0.468000 23 39 9.86323e-18 1.41333e-17 0.021523 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136654 40136654 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr11:40136654C>G ENST00000278198.2 - 2 3152 c.1189G>C c.(1189-1191)Ggg>Cgg p.G397R LRRC4C_ENST00000528697.1_Missense_Mutation_p.G397R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G397R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G397R Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 397 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TTGTACGCCCCATGTGTCATG 0.458000 96 365 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237948105 237948105 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:237948105G>C ENST00000366574.2 + 90 13410 c.13093G>C c.(13093-13095)Gac>Cac p.D4365H RYR2_ENST00000360064.6_Missense_Mutation_p.D4371H|RYR2_ENST00000542537.1_Missense_Mutation_p.D4349H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4365 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) GGATCTGACCGACTTAAAGGA 0.537000 75 152 0 0 0.014410 0 0 STAT3 6774 broad.mit.edu 37 17 40476748 40476748 + Silent SNP T T A rs1141123 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:40476748T>A ENST00000264657.5 - 17 1893 c.1581A>T c.(1579-1581)acA>acT p.T527T STAT3_ENST00000588969.1_Silent_p.T527T|STAT3_ENST00000389272.3_Silent_p.T429T|STAT3_ENST00000404395.3_Silent_p.T527T|STAT3_ENST00000585517.1_Silent_p.T527T NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 527 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TCTCTGCCAGTGTAGTCAGCT 0.602000 Hyperimmunoglobulin E Recurrent Infection Syndrome 6 17 0 0 0.003080 0 0 ACRV1 56 broad.mit.edu 37 11 125547931 125547931 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr11:125547931T>A ENST00000533904.1 - 2 656 c.314A>T c.(313-315)gAa>gTa p.E105V ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.E50V|ACRV1_ENST00000433875.1_Missense_Mutation_p.E105V|ACRV1_ENST00000257382.2_Missense_Mutation_p.E50V P26436 ASPX_HUMAN acrosomal vesicle protein 1 105 4 X 4 AA repeats of S-G-E-H. multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) ATGCTCACCTTCAGCATGTTC 0.542000 52 125 0 0 0.014410 0 0 PEG3 5178 broad.mit.edu 37 19 57335709 57335709 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:57335709C>A ENST00000326441.9 - 4 678 c.315G>T c.(313-315)tgG>tgT p.W105C PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000423103.2_Missense_Mutation_p.W105C|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 105 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTGCTCGCACCCAAGGCTTGA 0.537000 33 108 1.04352e-10 1.32555e-10 0.017118 1 0 ZKSCAN8 7745 broad.mit.edu 37 6 28121477 28121477 + Silent SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr6:28121477G>C ENST00000330236.6 + 6 1603 c.1419G>C c.(1417-1419)cgG>cgC p.R473R ZKSCAN8_ENST00000457389.2_Silent_p.R473R NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 CCTTCAGGCGGAGCTCACATC 0.502000 36 97 0 0 0.013726 0 0 MYH6 4624 broad.mit.edu 37 14 23863422 23863422 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:23863422G>A ENST00000405093.3 - 21 2610 c.2540C>T c.(2539-2541)aCg>aTg p.T847M MYH6_ENST00000356287.3_Missense_Mutation_p.T847M NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 847 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) CTCCTTCTCCGTCTCTGCGCT 0.562000 22 40 0 0 0.014323 0 0 WNT10B 7480 broad.mit.edu 37 12 49359953 49359953 + Silent SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:49359953A>G ENST00000301061.4 - 5 1443 c.1095T>C c.(1093-1095)caT>caC p.H365H WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 365 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 GGAAGCGGCAATGGCAGCGCT 0.602000 9 30 0 0 0.013537 0 0 GABRA2 2555 broad.mit.edu 37 4 46390669 46390669 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr4:46390669C>A ENST00000507460.1 - 2 387 c.55G>T c.(55-57)Gtg>Ttg p.V19L GABRA2_ENST00000381620.4_Missense_Mutation_p.V19L|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000514090.1_Missense_Mutation_p.V19L|GABRA2_ENST00000515082.1_Missense_Mutation_p.V19L|GABRA2_ENST00000507069.1_Missense_Mutation_p.V19L|GABRA2_ENST00000510861.1_Missense_Mutation_p.V19L|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000356504.1_Missense_Mutation_p.V19L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 19 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGGTCCCACACCAAGAAAACA 0.373000 22 84 7.87624e-14 1.03984e-13 0.016522 1 0 TDO2 6999 broad.mit.edu 37 4 156841072 156841072 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr4:156841072C>G ENST00000536354.2 + 12 1215 c.1151C>G c.(1150-1152)aCc>aGc p.T384S NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 384 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) ATGAACCCAACCATTCACAAA 0.358000 15 53 0 0 0.003163 0 0 ZNF426 79088 broad.mit.edu 37 19 9639758 9639758 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:9639758G>C ENST00000593003.1 - 6 1326 c.849C>G c.(847-849)aaC>aaG p.N283K ZNF426_ENST00000535489.1_Missense_Mutation_p.N321K|ZNF426_ENST00000253115.2_Missense_Mutation_p.N321K Q9BUY5 ZN426_HUMAN zinc finger protein 426 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TCTGAAATGAGTTGGAATAAT 0.443000 4 115 0 0 0.009096 0 0 ACVRL1 94 broad.mit.edu 37 12 52314647 52314647 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:52314647C>T ENST00000550683.1 + 9 1625 c.1524C>T c.(1522-1524)aaC>aaT p.N508N ACVRL1_ENST00000388922.4_Silent_p.N494N|ACVRL1_ENST00000419526.2_Silent_p.N320N NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 494 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) AAATTAGCAACAGTCCAGAGA 0.567000 3 29 0 0 0.009096 0 0 JAK3 3718 broad.mit.edu 37 19 17954675 17954675 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:17954675C>A ENST00000458235.1 - 3 318 c.219G>T c.(217-219)ctG>ctT p.L73L JAK3_ENST00000534444.1_Silent_p.L73L|JAK3_ENST00000527670.1_Silent_p.L73L|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 73 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). 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 CCTCCGTGGCCAGAGCAAAGA 0.612000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 4 9 3.59834e-05 4.04598e-05 0.001168 1 0 ARID1A 8289 broad.mit.edu 37 1 27102066 27102066 + Splice_Site SNP A A G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:27102066A>G ENST00000324856.7 + 19 5364 c.e19-1 ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGTTTATTTCAGGAACCCCGG 0.532000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 41 0 0 0.004482 0 0 TBPL2 387332 broad.mit.edu 37 14 55900394 55900394 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:55900394C>T ENST00000247219.5 - 4 812 c.742G>A c.(742-744)Gcc>Acc p.A248T NM_199047.2 NP_950248.1 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 248 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 AATATAAGGGCTGTTGTCCTG 0.453000 33 101 0 0 0.019004 0 0 KIF1B 23095 broad.mit.edu 37 1 10397177 10397177 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:10397177G>A ENST00000377086.1 + 30 3377 c.3175G>A c.(3175-3177)Gag>Aag p.E1059K KIF1B_ENST00000377081.1_Missense_Mutation_p.E1059K|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1013K O60333 KIF1B_HUMAN kinesin family member 1B 1059 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TCTGTCCTTGGAGGAGTTGAG 0.423000 94 368 0 0 0.014410 0 0 SLIT2 9353 broad.mit.edu 37 4 20255448 20255448 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr4:20255448G>T ENST00000504154.1 + 1 262 c.10G>T c.(10-12)Gtt>Ttt p.V4F SLIT2_ENST00000503837.1_Missense_Mutation_p.V4F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V4F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V4F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 4 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GATGCGCGGCGTTGGCTGGCA 0.672000 7 37 1.58986e-06 1.83146e-06 0.008291 1 0 SNTG1 54212 broad.mit.edu 37 8 51351125 51351125 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr8:51351125G>T ENST00000522124.1 + 5 846 c.185G>T c.(184-186)aGa>aTa p.R62I SNTG1_ENST00000517473.1_Missense_Mutation_p.R62I|SNTG1_ENST00000518864.1_Missense_Mutation_p.R62I|SNTG1_ENST00000276467.5_Missense_Mutation_p.R62I NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 62 PDZ. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ACCATCAGAAGACAAACAGTA 0.378000 18 85 1.45105e-14 1.95975e-14 0.006122 1 0 ITPR3 3710 broad.mit.edu 37 6 33626578 33626578 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr6:33626578C>T ENST00000374316.5 + 6 1561 c.501C>T c.(499-501)ttC>ttT p.F167F ITPR3_ENST00000605930.1_Silent_p.F167F Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 167 MIR 1. activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TCCAGCCCTTCTGGAAGCTGC 0.637000 33 84 0 0 0.015359 0 0 ATP1A2 477 broad.mit.edu 37 1 160105634 160105634 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:160105634C>T ENST00000361216.3 + 17 2379 c.2290C>T c.(2290-2292)Ctg>Ttg p.L764L ATP1A2_ENST00000392233.3_Silent_p.L764L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 764 L -> P (in FHM2; loss of function; dbSNP:rs28933398). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CACAGGCCGCCTGATCTTTGA 0.572000 48 255 0 0 0.014410 0 0 METTL25 84190 broad.mit.edu 37 12 82796795 82796795 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:82796795G>C ENST00000248306.3 + 5 1234 c.1165G>C c.(1165-1167)Gat>Cat p.D389H METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 CACTTGTGGTGATCTGGCTCC 0.343000 20 147 0 0 0.018920 0 0 NAP1L1 4673 broad.mit.edu 37 12 76444323 76444323 + Missense_Mutation SNP A A T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:76444323A>T ENST00000261182.8 - 12 1533 c.1047T>A c.(1045-1047)gaT>gaA p.D349E NAP1L1_ENST00000393263.3_Missense_Mutation_p.D349E|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D308E|NAP1L1_ENST00000544816.1_Missense_Mutation_p.D166E|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D349E|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D307E|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D349E|NAP1L1_ENST00000547993.1_Missense_Mutation_p.D166E|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D360E|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D286E|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D281E NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 349 Asp/Glu-rich (acidic). DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) CATCATCATCATCTTCAATAG 0.358000 4 118 0 0 0.001984 0 0 SERPINE1 5054 broad.mit.edu 37 7 100773718 100773718 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:100773718C>A ENST00000223095.4 + 3 445 c.288C>A c.(286-288)ccC>ccA p.P96P SERPINE1_ENST00000445463.2_Silent_p.P81P NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 96 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GCATGGCCCCCGCCCTCCGGC 0.607000 62 205 9.61844e-40 1.55885e-39 0.014410 1 0 PDZD8 118987 broad.mit.edu 37 10 119043306 119043306 + Missense_Mutation SNP T T C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr10:119043306T>C ENST00000334464.5 - 5 3177 c.2938A>G c.(2938-2940)Agt>Ggt p.S980G NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 980 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCCGTGTCACTGCCTTCGTTG 0.468000 198 605 0 0 0.014410 0 0 RUSC1 23623 broad.mit.edu 37 1 155294237 155294237 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:155294237G>A ENST00000368347.4 + 1 510 c.29G>A c.(28-30)cGc>cAc p.R10H RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368352.5_Intron NM_001105205.1 NP_001098675.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 0 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CCGGGGCTCCGCAGGCAGGAC 0.721000 4 97 0 0 0.014758 0 0 FGD3 89846 broad.mit.edu 37 9 95766312 95766312 + Silent SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr9:95766312G>C ENST00000375482.3 + 5 1069 c.573G>C c.(571-573)ggG>ggC p.G191G FGD3_ENST00000337352.6_Silent_p.G191G|FGD3_ENST00000416701.2_Silent_p.G191G NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 191 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 CGGATGCGGGGATCCCTCCAG 0.602000 OREG0019318 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 72 0 0 0.008291 0 0 ELMO2 63916 broad.mit.edu 37 20 45000483 45000483 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr20:45000483C>A ENST00000372176.1 - 17 1746 c.1278G>T c.(1276-1278)gaG>gaT p.E426D ELMO2_ENST00000396391.1_Missense_Mutation_p.E514D|ELMO2_ENST00000290246.6_Missense_Mutation_p.E514D|ELMO2_ENST00000445496.2_Missense_Mutation_p.E331D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E512D|ELMO2_ENST00000439931.2_Missense_Mutation_p.E526D|ELMO2_ENST00000454865.2_Missense_Mutation_p.E246D Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 514 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) GACTCATCCTCTCAGACTGGC 0.542000 9 134 2.17888e-05 2.48561e-05 0.006214 1 0 COLEC12 81035 broad.mit.edu 37 18 334871 334871 + Nonsense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr18:334871C>A ENST00000400256.3 - 6 1894 c.1687G>T c.(1687-1689)Gga>Tga p.G563* NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 563 Collagen-like 3. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCTGGCAGTCCCCGAGGTCCA 0.726000 3 9 0.004672 0.00501333 0.004672 1 0 TTN 7273 broad.mit.edu 37 2 179575543 179575543 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:179575543C>T ENST00000589042.1 - 98 28505 c.28281G>A c.(28279-28281)aaG>aaA p.K9427K TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.K9110K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K8183K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9110 Ig-like 77. 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) CCCAGCTGACCTTTATCGGTT 0.517000 28 85 0 0 0.008361 0 0 KAT2A 2648 broad.mit.edu 37 17 40271354 40271354 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr17:40271354C>T ENST00000225916.5 - 6 1035 c.982G>A c.(982-984)Gtt>Att p.V328I NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 328 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CGGCGGGTAACGGTGAAAATG 0.567000 35 114 0 0 0.009718 0 0 LCT 3938 broad.mit.edu 37 2 136566483 136566483 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:136566483C>T ENST00000264162.2 - 8 3444 c.3434G>A c.(3433-3435)cGa>cAa p.R1145Q NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1145 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGCAGCATTCGGTCAGCGGC 0.562000 18 51 0 0 0.014323 0 0 CALB2 794 broad.mit.edu 37 16 71408698 71408698 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr16:71408698G>C ENST00000302628.4 + 3 299 c.222G>C c.(220-222)aaG>aaC p.K74N CALB2_ENST00000349553.5_Missense_Mutation_p.K74N NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 74 EF-hand 2. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) TCATGCAGAAGTATGATAAAA 0.493000 31 82 0 0 0.010818 0 0 ZNF676 163223 broad.mit.edu 37 19 22363074 22363074 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:22363074C>T ENST00000397121.2 - 3 1762 c.1445G>A c.(1444-1446)tGt>tAt p.C482Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 482 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GCCTTTGCCACATTCTTCACA 0.393000 42 148 0 0 0.010771 0 0 RGL1 23179 broad.mit.edu 37 1 183869311 183869311 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:183869311C>T ENST00000304685.3 + 12 1824 c.1363C>T c.(1363-1365)Ctg>Ttg p.L455L RGL1_ENST00000539189.1_Intron|RGL1_ENST00000360851.3_Silent_p.L420L|RGL1_ENST00000367531.1_Silent_p.L455L|RGL1_ENST00000536277.1_Silent_p.L418L NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 420 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TGTGCCCTACCTGGGCACCTT 0.512000 76 276 0 0 0.014410 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41739445 41739445 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr22:41739445C>T ENST00000352645.4 + 13 1581 c.1324C>T c.(1324-1326)Cgt>Tgt p.R442C ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R442C NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 458 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTACACCTACCGTGAGGGCCT 0.637000 7 46 0 0 0.006214 0 0 CACNA1S 779 broad.mit.edu 37 1 201022390 201022390 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:201022390C>T ENST00000362061.3 - 31 4034 c.3808G>A c.(3808-3810)Gtg>Atg p.V1270M CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1251M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1270 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGCAGAGCCACGTAGGGTAGG 0.622000 5 141 0 0 0.014758 0 0 STAB1 23166 broad.mit.edu 37 3 52529465 52529465 + Silent SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:52529465C>T ENST00000321725.6 + 1 112 c.36C>T c.(34-36)ctC>ctT p.L12L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 12 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACTCTGCCTCCTGGCCTTCT 0.701000 3 6 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179449101 179449101 + Missense_Mutation SNP T T G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:179449101T>G ENST00000589042.1 - 311 65401 c.65177A>C c.(65176-65178)gAa>gCa p.E21726A TTN-AS1_ENST00000456053.1_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.E20085A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12853A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19158A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12661A|TTN_ENST00000359218.5_Missense_Mutation_p.E12786A|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20085 Ig-like 114. 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) CTCAAGACCTTCTACAAGGCC 0.448000 7 218 0 0 0.003080 0 0 TRH 7200 broad.mit.edu 37 3 129695748 129695748 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:129695748C>T ENST00000302649.3 + 3 945 c.418C>T c.(418-420)Cgc>Tgc p.R140C TRH_ENST00000507066.1_Missense_Mutation_p.R136C NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 140 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 TCCTGGCCGGCGCTCCCCCTG 0.627000 4 91 0 0 0.009096 0 0 DSC2 1824 broad.mit.edu 37 18 28672145 28672145 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr18:28672145C>A ENST00000280904.6 - 3 716 c.273G>T c.(271-273)aaG>aaT p.K91N DSC2_ENST00000251081.6_Missense_Mutation_p.K91N NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 91 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TAAAACTTCTCTTCTCCGAGG 0.338000 30 118 2.70662e-09 3.33013e-09 0.009535 1 0 WDR49 151790 broad.mit.edu 37 3 167277872 167277872 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:167277872T>A ENST00000308378.3 - 5 936 c.631A>T c.(631-633)Agc>Tgc p.S211C WDR49_ENST00000476376.1_Missense_Mutation_p.S36C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.S264C NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 211 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CCATCTGTGCTGCCAGTCAAA 0.443000 65 255 0 0 0.014410 0 0 RNF17 56163 broad.mit.edu 37 13 25338423 25338423 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr13:25338423G>A ENST00000255324.5 + 1 134 c.82G>A c.(82-84)Gct>Act p.A28T RNF17_ENST00000255325.5_Missense_Mutation_p.A28T|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.A28T NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 28 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTGGGGTGCCGCTGAAATCCA 0.622000 3 19 0 0 0.004672 0 0 MAD2L1 4085 broad.mit.edu 37 4 120981278 120981278 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr4:120981278C>T ENST00000296509.5 - 5 952 c.613G>A c.(613-615)Gac>Aac p.D205N NM_002358.3 NP_002349.1 Q13257 MD2L1_HUMAN MAD2 mitotic arrest deficient-like 1 (yeast) 205 Required for assuming the closed conformation and for interaction with CDC20. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity breast(2)|kidney(2)|large_intestine(2)|lung(3) 9 CATCCTCAGTCATTGACAGGA 0.338000 23 119 0 0 0.005443 0 0 TRPM4 54795 broad.mit.edu 37 19 49671336 49671336 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:49671336C>T ENST00000252826.5 + 4 556 c.430C>T c.(430-432)Cgg>Tgg p.R144W TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 144 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TGGGCTGGTGCGGGCTGCCCA 0.731000 3 47 0 0 0.004672 0 0 LIG1 3978 broad.mit.edu 37 19 48654564 48654564 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:48654564C>A ENST00000263274.7 - 7 918 c.499G>T c.(499-501)Gct>Tct p.A167S LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.A136S|LIG1_ENST00000599165.1_5'UTR NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 167 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GCCACTTCAGCCTCTGTGAGG 0.542000 Nucleotide excision repair (NER) 78 253 2.61964e-41 4.27511e-41 0.014410 1 0 TMEM55A 55529 broad.mit.edu 37 8 92008881 92008881 + Splice_Site SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr8:92008881C>G ENST00000285419.3 - 6 945 c.e6+1 NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) GTAACACTCACAGTTAACCCA 0.438000 9 18 0 0 0.004482 0 0 PSG8 440533 broad.mit.edu 37 19 43269801 43269801 + Translation_Start_Site SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:43269801G>T ENST00000404209.4 - 0 29 PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_De_novo_Start_OutOfFrame|PSG8_ENST00000306511.4_De_novo_Start_OutOfFrame NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CCTGAGCACAGCTCTCAGCAG 0.617000 23 57 2.89027e-11 3.71155e-11 0.014323 1 0 TTN 7273 broad.mit.edu 37 2 179622365 179622365 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:179622365C>T ENST00000589042.1 - 45 10806 c.10582G>A c.(10582-10584)Gat>Aat p.D3528N TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3482N|TTN-AS1_ENST00000590773.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3209 Ig-like 21. 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) GAGTAAGCATCAACTATAAGC 0.438000 49 176 0 0 0.014410 0 0 PEX5L 51555 broad.mit.edu 37 3 179525576 179525576 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:179525576C>T ENST00000467460.1 - 14 1892 c.1562G>A c.(1561-1563)gGa>gAa p.G521E PEX5L_ENST00000465751.1_Missense_Mutation_p.G497E|PEX5L_ENST00000464614.1_Missense_Mutation_p.G413E|PEX5L_ENST00000392649.3_Missense_Mutation_p.G413E|PEX5L_ENST00000263962.8_Missense_Mutation_p.G519E|PEX5L_ENST00000485199.1_Missense_Mutation_p.G486E|PEX5L_ENST00000476138.1_Missense_Mutation_p.G478E|PEX5L_ENST00000472994.1_Missense_Mutation_p.G462E|PEX5L_ENST00000468741.1_Missense_Mutation_p.G329E|PEX5L_ENST00000467440.2_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 521 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GCTGCGGTCTCCGTTCGCCAA 0.522000 45 127 0 0 0.014410 0 0 PEX13 5194 broad.mit.edu 37 2 61259019 61259019 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:61259019G>C ENST00000295030.4 + 2 596 c.558G>C c.(556-558)agG>agC p.R186S NM_002618.3 NP_002609.1 Q92968 PEX13_HUMAN peroxisomal biogenesis factor 13 186 Interaction with PEX19.|Targeting to peroxisomes. cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior integral to peroxisomal membrane|membrane fraction protein binding endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114) CATTGGTTAGGACTATACGGT 0.418000 42 128 0 0 0.008740 0 0 PPP4R2 151987 broad.mit.edu 37 3 73114652 73114652 + Missense_Mutation SNP C C G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:73114652C>G ENST00000356692.5 + 9 1286 c.1033C>G c.(1033-1035)Caa>Gaa p.Q345E PPP4R2_ENST00000295862.9_Missense_Mutation_p.Q289E|PPP4R2_ENST00000394284.3_Missense_Mutation_p.Q288E Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 345 Glu-rich. mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GGAAAATAATCAAATGGAGGA 0.373000 9 465 0 0 0.004482 0 0 SETD2 29072 broad.mit.edu 37 3 47164268 47164268 + Nonsense_Mutation SNP G G A rs148810823 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:47164268G>A ENST00000409792.3 - 3 1900 c.1858C>T c.(1858-1860)Cga>Tga p.R620* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCATTTAATCGATTTGATGGA 0.313000 """N, F, S, Mis""" clear cell renal carcinoma 3 48 0 0 0.009096 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927486 92927486 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:92927486G>A ENST00000373079.3 - 1 1081 c.818C>T c.(817-819)gCa>gTa p.A273V NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 273 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TGCAGCCCTTGCCTTAGCCTC 0.448000 4 123 0 0 0.014758 0 0 THSD7A 221981 broad.mit.edu 37 7 11452406 11452406 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:11452406G>A ENST00000423059.3 - 18 3810 c.3559C>T c.(3559-3561)Cgg>Tgg p.R1187W AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1187 TSP type-1 11. integral to membrane p.R1187W(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GACCTTTGCCGGAAACTGCTT 0.428000 HNSCC(18;0.044) 11 36 0 0 0.010729 0 0 CLEC4M 10332 broad.mit.edu 37 19 7832417 7832417 + Nonsense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:7832417C>T ENST00000327325.5 + 6 1070 c.952C>T c.(952-954)Cag>Tag p.Q318* CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q182*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q251*|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q296*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q251*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q306*|CLEC4M_ENST00000334806.5_Nonsense_Mutation_p.Q267* NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 318 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 CCTACAGCTGCAGACTTCCAG 0.557000 32 98 0 0 0.010818 0 0 ALDH1A3 220 broad.mit.edu 37 15 101434170 101434170 + Silent SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr15:101434170C>A ENST00000329841.5 + 6 1081 c.549C>A c.(547-549)ccC>ccA p.P183P RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 183 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) GGAACTTCCCCCTGCTGATGC 0.602000 27 84 4.87955e-14 6.4785e-14 0.005443 1 0 PTPDC1 138639 broad.mit.edu 37 9 96859671 96859671 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr9:96859671C>T ENST00000375360.3 + 7 1001 c.661C>T c.(661-663)Cgg>Tgg p.R221W PTPDC1_ENST00000288976.3_Missense_Mutation_p.R273W NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 221 Tyrosine-protein phosphatase. protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R273W(1)|p.R221W(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TATATTTGTGCGGGCAAAGCG 0.418000 4 111 0 0 0.014758 0 0 GUSBP5 441046 broad.mit.edu 37 4 144481231 144481231 + RNA SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr4:144481231C>T ENST00000510805.1 + 0 607 NR_003675.2 TGGGTACCATCCTGCTTCCAC 0.542000 3 10 0 0 0.004672 0 0 ACSL6 23305 broad.mit.edu 37 5 131310609 131310609 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:131310609G>C ENST00000379264.2 - 11 1153 c.1045C>G c.(1045-1047)Cac>Gac p.H349D ACSL6_ENST00000544770.1_Missense_Mutation_p.H233D|ACSL6_ENST00000379240.1_Missense_Mutation_p.H324D|ACSL6_ENST00000379244.1_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000543479.1_Intron|ACSL6_ENST00000379272.2_Missense_Mutation_p.H339D|ACSL6_ENST00000379246.1_Missense_Mutation_p.H335D|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000296869.4_Intron|ACSL6_ENST00000431707.1_Missense_Mutation_p.H304D NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 324 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCAAACATGTGAGCCAGAGGC 0.527000 9 40 0 0 0.004482 0 0 AQP10 89872 broad.mit.edu 37 1 154293705 154293705 + Missense_Mutation SNP T T A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:154293705T>A ENST00000484864.1 + 1 110 c.74T>A c.(73-75)cTg>cAg p.L25Q AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.L25Q Q96PS8 AQP10_HUMAN aquaporin 10 25 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CGGCAGTGCCTGGCAGAGTTT 0.557000 12 54 0 0 0.020292 0 0 GPX8 493869 broad.mit.edu 37 5 54456954 54456954 + Missense_Mutation SNP G G A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr5:54456954G>A ENST00000503787.1 + 2 412 c.337G>A c.(337-339)Gaa>Aaa p.E113K CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.E62K|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000296734.6_Intron NM_001008397.2 NP_001008398.2 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 (putative) 113 response to oxidative stress integral to membrane glutathione peroxidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) TCAGTTTGGAGAATCGGAGCC 0.453000 4 81 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179481280 179481280 + Missense_Mutation SNP C C A TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr2:179481280C>A ENST00000589042.1 - 257 48462 c.48238G>T c.(48238-48240)Gat>Tat p.D16080Y TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14439Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7207Y|TTN_ENST00000342992.6_Missense_Mutation_p.D13512Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7015Y|TTN_ENST00000359218.5_Missense_Mutation_p.D7140Y|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14439 Ig-like 99. 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) CCATCATCATCAGGTGGTTCC 0.433000 12 307 0.00136819 0.00147489 0.013537 1 0 KPNA4 3840 broad.mit.edu 37 3 160225999 160225999 + Missense_Mutation SNP T T C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr3:160225999T>C ENST00000334256.4 - 15 1573 c.1268A>G c.(1267-1269)aAa>aGa p.K423R NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 423 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TTGTGCATCTTTTACAGTCAG 0.338000 19 42 0 0 0.006122 0 0 ODF2L 57489 broad.mit.edu 37 1 86842004 86842004 + Missense_Mutation SNP G G T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:86842004G>T ENST00000359242.3 - 8 1003 c.722C>A c.(721-723)gCt>gAt p.A241D ODF2L_ENST00000317336.7_Missense_Mutation_p.A241D|ODF2L_ENST00000370567.1_Missense_Mutation_p.A241D|ODF2L_ENST00000370566.3_Missense_Mutation_p.A241D|ODF2L_ENST00000394731.1_Missense_Mutation_p.A110D|ODF2L_ENST00000294678.2_Missense_Mutation_p.A241D NM_001007022.2 NP_001007023.2 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like 241 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) CTTTTTTAAAGCTACAGTTTT 0.358000 4 93 0.00909568 0.00967188 0.009096 1 0 APOO 79135 broad.mit.edu 37 X 23897065 23897065 + Silent SNP T T C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:23897065T>C ENST00000379226.4 - 3 435 c.204A>G c.(202-204)cgA>cgG p.R68R APOO_ENST00000379220.3_Silent_p.R68R NM_024122.4 NP_077027.1 Q9BUR5 APOO_HUMAN apolipoprotein O 68 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 CGCAATAGTGTCGGAGCTGTG 0.463000 37 38 0 0 0.006999 0 0 MARK3 4140 broad.mit.edu 37 14 103941476 103941476 + Missense_Mutation SNP A A T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr14:103941476A>T ENST00000429436.2 + 13 1921 c.1411A>T c.(1411-1413)Atg>Ttg p.M471L MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.M494L|MARK3_ENST00000335102.5_Missense_Mutation_p.M494L|MARK3_ENST00000303622.9_Missense_Mutation_p.M471L|MARK3_ENST00000216288.7_Missense_Mutation_p.M455L|MARK3_ENST00000553942.1_Missense_Mutation_p.M471L|MARK3_ENST00000440884.3_Missense_Mutation_p.M392L NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 471 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) AGCCAGTCCCATGCTTGGGAA 0.473000 17 45 0 0 0.016522 0 0 THRAP3 9967 broad.mit.edu 37 1 36752273 36752274 + Frame_Shift_Ins INS - - AATC TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:36752273_36752274insAATC ENST00000354618.5 + 4 666_667 c.442_443insAATC c.(442-444)gtcfs p.V148fs THRAP3_ENST00000469141.2_Frame_Shift_Ins_p.V148fs NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 148 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAACTCTGATAAGTCGTCTTCT 0.535 T USP6 aneurysmal bone cysts 9 912 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68428155 68428156 + RNA DEL TG TG - rs34560712 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr1:68428155_68428156delTG ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000414904.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN aagatcGCTCtgtgtgtgtgtg 0.480 3 4 --- --- --- --- FILIP1 27145 broad.mit.edu 37 6 76024430 76024430 + Frame_Shift_Del DEL T T - TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr6:76024430delT ENST00000393004.2 - 5 1339 c.1118delA c.(1117-1119)acfs p.N373fs FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Frame_Shift_Del_p.N373fs|FILIP1_ENST00000370020.1_Frame_Shift_Del_p.N274fs Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 373 N -> D (in Ref. 3; BX647178). breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GAGGCTAGAGTTTCCACATTC 0.413 29 384 --- --- --- --- PCOLCE 5118 broad.mit.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr7:100205413_100205414insC ENST00000223061.5 + 8 1446_1447 c.1166_1167insC c.(1165-1167)tccfs p.S389fs NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 389 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity p.M392fs*>59(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCAAGCAGTGCCCCCCCATGA 0.510 7 111 --- --- --- --- C9orf152 401546 broad.mit.edu 37 9 112963553 112963554 + Frame_Shift_Ins INS - - G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr9:112963553_112963554insG ENST00000400613.4 - 2 1003_1004 c.394_395insC c.(394-396)ggafs p.G132fs C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 132 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 ACTGGTGTCCTGGGGGGAGGTT 0.564 7 764 --- --- --- --- C12orf68 387856 broad.mit.edu 37 12 48578409 48578410 + Frame_Shift_Ins INS - - G TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr12:48578409_48578410insG ENST00000316554.3 + 1 1044_1045 c.504_505insG c.(502-507)ctggggfs p.LG168fs NM_001013635.3 NP_001013657.3 Q52MB2 CL068_HUMAN chromosome 12 open reading frame 68 168 cytoplasm p.D171fs*>25(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1) 4 CTGGTCTCCTTGGGGGGGACGG 0.658 3 5 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 79066552 79066554 + RNA DEL AAT AAT - rs75155762 TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr13:79066552_79066554delAAT ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA TGTGAAAAAAAATAATgaaagaa 0.399 3 6 --- --- --- --- HS3ST6 64711 broad.mit.edu 37 16 1961899 1961899 + Frame_Shift_Del DEL G G - TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr16:1961899delG ENST00000454677.2 - 2 837 c.772delC c.(772-774)tgfs p.L258fs HS3ST6_ENST00000443547.1_Frame_Shift_Del_p.L210fs|HS3ST6_ENST00000293937.3_Frame_Shift_Del_p.L241fs C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 210 endometrium(2)|lung(2) 4 AAGTGGGACAGGGGGAAGTAG 0.706 8 29 --- --- --- --- CPAMD8 27151 broad.mit.edu 37 19 17039000 17039000 + Frame_Shift_Del DEL G G - TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:17039000delG ENST00000443236.1 - 25 3361 c.3330delC c.(3328-3330)gcfs p.A1110fs NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1063 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGAGGGTCCAGGCCACAATGA 0.582 10 52 --- --- --- --- HPN-AS1 100128675 broad.mit.edu 37 19 35565773 35565774 + RNA INS - - C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chr19:35565773_35565774insC ENST00000392227.2 - 0 404 NR_024562.1 CTTCCTCACTTCCCCCAGTTCT 0.644 3 4 --- --- --- --- FAM47C 442444 broad.mit.edu 37 X 37029390 37029391 + Frame_Shift_Ins INS - - C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88ec6fb4-1b81-422e-8204-ef9e8dbf260c a7792af9-976e-44a2-b6df-4f450205ec29 g.chrX:37029390_37029391insC ENST00000358047.3 + 1 2959_2960 c.2907_2908insC c.(2905-2910)gaccgafs p.R970fs NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 970 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGCCTGATGAACCCGACATTCT 0.455 23 71 --- --- --- ---