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 ZSCAN21 7589 broad.mit.edu 37 7 99661434 99661434 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr7:99661434G>A ENST00000292450.4 + 4 780 c.616G>A c.(616-618)Gag>Aag p.E206K ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E206K|ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E206K NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 206 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TACCCAGCACGAGGAATCAGC 0.428000 4 117 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40657633 40657633 + Missense_Mutation SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr12:40657633A>G ENST00000298910.7 + 14 1644 c.1586A>G c.(1585-1587)aAg>aGg p.K529R LRRK2_ENST00000343742.2_Missense_Mutation_p.K529R NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 529 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTCATCATAAGCTAAATATG 0.308000 4 53 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74810921 74810921 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr10:74810921C>T ENST00000412021.2 - 8 1123 c.790G>A c.(790-792)Gat>Aat p.D264N P4HA1_ENST00000440381.1_Missense_Mutation_p.D264N|P4HA1_ENST00000373008.2_Missense_Mutation_p.D264N|P4HA1_ENST00000263556.3_Missense_Mutation_p.D264N|P4HA1_ENST00000394890.2_Missense_Mutation_p.D264N|P4HA1_ENST00000307116.2_Missense_Mutation_p.D264N NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 264 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) GATTGGTCATCTGAAGCAGAC 0.393000 4 117 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786781 19786781 + Silent SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr9:19786781A>G ENST00000341998.2 - 1 145 c.84T>C c.(82-84)taT>taC p.Y28Y SLC24A2_ENST00000286344.3_Silent_p.Y28Y NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 28 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TCTTGACACTATAATGTCTTC 0.443000 25 114 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 4 81 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61493245 61493245 + Missense_Mutation SNP G G T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:61493245G>T ENST00000398571.2 - 42 5567 c.5491C>A c.(5491-5493)Caa>Aaa p.Q1831K NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1831 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TTTGGCTGTTGTCGGTCCTTT 0.388000 6 84 0.0293803 0.0299799 1 1 0 COL6A2 1292 broad.mit.edu 37 21 47544582 47544582 + Silent SNP T T A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr21:47544582T>A ENST00000300527.4 + 22 1793 c.1689T>A c.(1687-1689)ccT>ccA p.P563P COL6A2_ENST00000409416.1_Silent_p.P563P|COL6A2_ENST00000310645.5_Silent_p.P563P|COL6A2_ENST00000357838.4_Silent_p.P563P|COL6A2_ENST00000397763.1_Silent_p.P563P NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 563 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CTGGTCCCCCTGGTGAGCCAG 0.667000 4 29 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037370 148037370 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:148037370C>T ENST00000370460.2 + 11 2274 c.1795C>T c.(1795-1797)Cgg>Tgg p.R599W AFF2_ENST00000370457.5_Missense_Mutation_p.R566W|AFF2_ENST00000286437.5_Missense_Mutation_p.R240W|AFF2_ENST00000342251.3_Missense_Mutation_p.R566W NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 599 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AGCCCGTCCACGGCCCACTCA 0.468000 10 170 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167870945 167870945 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr1:167870945C>G ENST00000367848.1 - 5 612 c.115G>C c.(115-117)Gag>Cag p.E39Q ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Missense_Mutation_p.E131Q Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 131 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCCTGGGTCTCAAACAATCCA 0.483000 4 113 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160734841 160734841 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:160734841C>G ENST00000263636.4 - 11 1795 c.1768G>C c.(1768-1770)Gag>Cag p.E590Q LY75_ENST00000554112.1_Missense_Mutation_p.E590Q|LY75_ENST00000553424.1_Missense_Mutation_p.E590Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E590Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E590Q NM_002349.3 NP_002340.2 lymphocyte antigen 75 p.E590Q(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TCACCTGGCTCAAGAAAATTC 0.443000 7 71 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29192767 29192767 + Missense_Mutation SNP A A T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr17:29192767A>T ENST00000321990.4 + 11 3560 c.3182A>T c.(3181-3183)cAg>cTg p.Q1061L NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1061 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TATCAACCTCAGACTGCCAGT 0.299000 3 70 0 0 1 0 0 TMEM150B 284417 broad.mit.edu 37 19 55831949 55831949 + Silent SNP G G T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:55831949G>T ENST00000326652.4 - 4 287 c.105C>A c.(103-105)ctC>ctA p.L35L TMEM150B_ENST00000438693.1_Silent_p.L35L NM_001282011.1 NP_001268940.1 A6NC51 T150B_HUMAN transmembrane protein 150B 35 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 AGCCTTTACTGAGGTCCACAG 0.527000 10 107 2.17888e-05 2.42097e-05 1 1 0 TTK 7272 broad.mit.edu 37 6 80749413 80749413 + Splice_Site SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr6:80749413A>G ENST00000509894.1 + 19 2957 c.2128A>G c.(2128-2130)Ata>Gta p.I710V TTK_ENST00000369798.2_Splice_Site_p.I711V|TTK_ENST00000230510.3_Splice_Site_p.I710V P33981 TTK_HUMAN TTK protein kinase 711 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTTTTCTTAGATAAGCCCCAA 0.239000 6 108 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93026964 93026964 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr8:93026964G>C ENST00000523629.1 - 4 765 c.311C>G c.(310-312)tCt>tGt p.S104C RUNX1T1_ENST00000360348.2_Missense_Mutation_p.S67C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.S115C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.S77C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.S104C|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.S67C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.S67C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.S77C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.S67C NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 104 Poly-Ser. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGAGGAGGAAGAAGAGGAAGG 0.547000 3 50 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033197 20033197 + Silent SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr20:20033197G>A ENST00000377340.2 - 2 304 c.273C>T c.(271-273)tgC>tgT p.C91C C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_5'UTR|CRNKL1_ENST00000377327.4_Silent_p.C79C|C20orf26_ENST00000245957.5_5'UTR NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 91 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 CCTCCTTGCGGCAGCGCGTGG 0.672000 3 25 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711080 58711080 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr11:58711080G>A ENST00000300079.5 + 2 139 c.89G>A c.(88-90)gGa>gAa p.G30E RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 0 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) agtgaacacggaaggtacctg 0.453000 4 57 0 0 1 0 0 TIA1 7072 broad.mit.edu 37 2 70463276 70463276 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:70463276C>T ENST00000433529.2 - 2 268 c.58G>A c.(58-60)Gaa>Aaa p.E20K TIA1_ENST00000415783.2_Missense_Mutation_p.E20K|TIA1_ENST00000445587.1_Missense_Mutation_p.E20K|TIA1_ENST00000416149.2_Missense_Mutation_p.E20K|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Missense_Mutation_p.E20K NM_022173.2 NP_071505.2 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding protein 20 RRM 1. apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 17 ATTAGAGCTTCTGTCACATCT 0.348000 3 57 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGCACTCTGTATCCTTCTCTG 0.458000 3 81 0 0 1 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857579 101857579 + Missense_Mutation SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:101857579A>G ENST00000604957.1 + 1 3132 c.510A>G c.(508-510)atA>atG p.I170M RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.I170M|ARMCX5_ENST00000246174.2_Missense_Mutation_p.I170M|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.I170M|ARMCX5_ENST00000372742.1_Missense_Mutation_p.I170M|ARMCX5_ENST00000536530.1_Missense_Mutation_p.I170M NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 170 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 AAGAAAATATATGCTCCTGGT 0.478000 5 140 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111688460 111688460 + Missense_Mutation SNP T T A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr6:111688460T>A ENST00000435970.1 - 16 7113 c.6297A>T c.(6295-6297)caA>caT p.Q2099H REV3L_ENST00000358835.3_Missense_Mutation_p.Q2177H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q2177H|REV3L_ENST00000368805.1_Missense_Mutation_p.Q2177H O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2177 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTAGAGGCTCTTGAGGCTCAC 0.418000 DNA polymerases (catalytic subunits) 4 127 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162725046 162725046 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr1:162725046C>G ENST00000367922.3 + 7 956 c.518C>G c.(517-519)tCc>tGc p.S173C DDR2_ENST00000367921.3_Missense_Mutation_p.S173C NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 F5/8 type C. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ACCGACCACTCCATGAATGTG 0.473000 16 70 0 0 1 0 0 CYP27B1 1594 broad.mit.edu 37 12 58158851 58158851 + Missense_Mutation SNP G G T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr12:58158851G>T ENST00000228606.4 - 4 942 c.733C>A c.(733-735)Ctt>Att p.L245I NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 245 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCAGGCACAAGGTGGCGCAGC 0.617000 OREG0021953 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 42 0.014758 0.0153729 1 1 0 BRD9 65980 broad.mit.edu 37 5 865548 865548 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr5:865548C>G ENST00000323510.4 - 12 1385 c.1386G>C c.(1384-1386)gaG>gaC p.E462D BRD9_ENST00000483173.1_Missense_Mutation_p.E505D|BRD9_ENST00000467963.1_Missense_Mutation_p.E558D|BRD9_ENST00000388890.4_Missense_Mutation_p.E442D Q9H8M2 BRD9_HUMAN bromodomain containing 9 558 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GCTGGTCCCTCTCGGAGGCGT 0.657000 4 58 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55107895 55107895 + Silent SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:55107895A>G ENST00000251372.3 + 7 1382 c.1200A>G c.(1198-1200)tcA>tcG p.S400S LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR NM_006863.2 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 400 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCTACGGCTCACTCAGCTCCA 0.567000 6 76 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430300 135430300 + Missense_Mutation SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:135430300A>G ENST00000394143.1 + 6 4726 c.4435A>G c.(4435-4437)Aca>Gca p.T1479A GPR112_ENST00000412101.1_Missense_Mutation_p.T1274A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1479A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1416A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1274A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1479 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGACGGTTTTACAGTTCTCTC 0.443000 4 121 0 0 1 0 0 SPAST 6683 broad.mit.edu 37 2 32312563 32312563 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:32312563G>A ENST00000315285.3 + 2 543 c.418G>A c.(418-420)Gga>Aga p.G140R SPAST_ENST00000345662.1_Missense_Mutation_p.G140R NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 140 MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTTTAAAGCAGGACAGAAGGA 0.328000 4 64 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122659876 122659876 + Silent SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr11:122659876C>T ENST00000284273.5 + 6 1215 c.840C>T c.(838-840)ttC>ttT p.F280F NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 280 SH3. cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CCGGGGACTTCATCTTCATGT 0.542000 8 153 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61493247 61493247 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:61493247C>T ENST00000398571.2 - 42 5565 c.5489G>A c.(5488-5490)cGa>cAa p.R1830Q NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1830 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TGGCTGTTGTCGGTCCTTTAG 0.388000 6 85 0 0 1 0 0 MFSD6 54842 broad.mit.edu 37 2 191302088 191302088 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:191302088G>A ENST00000392328.1 + 3 1657 c.1333G>A c.(1333-1335)Gtg>Atg p.V445M MFSD6_ENST00000281416.7_Missense_Mutation_p.V445M NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 445 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 GCTCTGCAGCGTGCAGTATGG 0.498000 6 165 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64473846 64473846 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr14:64473846C>G ENST00000358025.3 + 31 4713 c.4483C>G c.(4483-4485)Cca>Gca p.P1495A SYNE2_ENST00000344113.4_Missense_Mutation_p.P1495A|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.P1495A NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1495 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TAATTCTCTTCCACACTTCAA 0.373000 8 147 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73718244 73718244 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr14:73718244G>C ENST00000427855.1 + 8 742 c.640G>C c.(640-642)Gac>Cac p.D214H PAPLN_ENST00000555445.1_Missense_Mutation_p.D214H|PAPLN_ENST00000554301.1_Missense_Mutation_p.D214H|PAPLN_ENST00000381166.3_Missense_Mutation_p.D214H|PAPLN_ENST00000340738.5_Intron O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 214 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CATCCTCATCGACGAGGCTGC 0.642000 3 27 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49660147 49660147 + Missense_Mutation SNP T T C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr16:49660147T>C ENST00000561648.1 - 5 3564 c.3511A>G c.(3511-3513)Atc>Gtc p.I1171V ZNF423_ENST00000535559.1_Missense_Mutation_p.I1054V|ZNF423_ENST00000562520.1_Missense_Mutation_p.I1111V|ZNF423_ENST00000262383.2_Missense_Mutation_p.I1171V|ZNF423_ENST00000563137.2_Missense_Mutation_p.I1111V|ZNF423_ENST00000567169.1_Missense_Mutation_p.I1054V|ZNF423_ENST00000562871.1_Missense_Mutation_p.I1111V NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1171 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGGCACTTGATGCACTGGTAT 0.468000 5 118 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462229 224462229 + Missense_Mutation SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:224462229A>G ENST00000305409.2 - 2 2004 c.1772T>C c.(1771-1773)aTg>aCg p.M591T NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 591 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CAGCACTTTCATTAACAGATC 0.458000 8 117 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95645809 95645809 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr12:95645809G>C ENST00000436874.1 + 2 235 c.130G>C c.(130-132)Gag>Cag p.E44Q VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_5'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 44 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 ATGCACAACAGAGGGACAACA 0.393000 3 76 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106737201 106737201 + Missense_Mutation SNP T T C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr10:106737201T>C ENST00000369701.3 + 4 1131 c.904T>C c.(904-906)Ttt>Ctt p.F302L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 302 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGCCTGCTCTTTCATCCCAA 0.463000 3 50 0 0 1 0 0 GNS 2799 broad.mit.edu 37 12 65137014 65137014 + Silent SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr12:65137014C>T ENST00000258145.3 - 6 869 c.699G>A c.(697-699)gcG>gcA p.A233A GNS_ENST00000542058.1_Silent_p.A213A|GNS_ENST00000543646.1_Silent_p.A265A|GNS_ENST00000418919.2_Silent_p.A177A NM_002076.3 NP_002067.1 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase 233 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4) 15 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) GCGAATGAGGCGCTGGAGTGG 0.463000 4 72 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17145218 17145218 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr10:17145218G>A ENST00000377833.4 - 13 1501 c.1436C>T c.(1435-1437)tCa>tTa p.S479L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 479 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATTTATTCCTGAGAGGGACTC 0.428000 3 52 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118950375 118950375 + Missense_Mutation SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr9:118950375A>G ENST00000328252.3 + 2 1727 c.1358A>G c.(1357-1359)cAc>cGc p.H453R NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 453 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AAGAAGCAGCACAACGGGGTG 0.572000 4 35 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62362492 62362492 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr11:62362492G>C ENST00000278823.2 - 15 1923 c.1534C>G c.(1534-1536)Ctg>Gtg p.L512V MTA2_ENST00000527204.1_Missense_Mutation_p.L339V|MTA2_ENST00000524902.1_Missense_Mutation_p.L339V NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 512 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 AGCCGCACCAGAGGGTGAATC 0.542000 5 116 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1375431 1375431 + Missense_Mutation SNP T T A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr17:1375431T>A ENST00000359786.5 - 18 2213 c.1889A>T c.(1888-1890)gAt>gTt p.D630V MYO1C_ENST00000545534.2_Missense_Mutation_p.D606V|MYO1C_ENST00000438665.2_Missense_Mutation_p.D611V|MYO1C_ENST00000575158.1_Missense_Mutation_p.D595V|MYO1C_ENST00000361007.2_Missense_Mutation_p.D595V NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 630 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTGTTTGGCATCATTGGGTTT 0.677000 4 59 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349688 150349688 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:150349688C>T ENST00000218316.3 + 2 1702 c.1633C>T c.(1633-1635)Ccc>Tcc p.P545S NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 545 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CTCCCATTGCCCCGAGATCCC 0.642000 3 64 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364405 10364405 + Silent SNP C C A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr1:10364405C>A ENST00000377093.4 + 21 3315 c.3162C>A c.(3160-3162)ctC>ctA p.L1054L KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Silent_p.L1054L NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 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) GCAATTCTCTCAATAATGGCC 0.493000 4 122 0.184627 0.184627 1 1 0 RP1 6101 broad.mit.edu 37 8 55533897 55533897 + Missense_Mutation SNP C C A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr8:55533897C>A ENST00000220676.1 + 2 519 c.371C>A c.(370-372)cCg>cAg p.P124Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 124 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CGTCGGCGCCCGCGGCCCTGG 0.706000 5 54 0.014758 0.0153729 1 1 0 NCKAP5 344148 broad.mit.edu 37 2 133541237 133541237 + Silent SNP A A T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:133541237A>T ENST00000409261.1 - 14 3520 c.3147T>A c.(3145-3147)tcT>tcA p.S1049S NCKAP5_ENST00000317721.6_Silent_p.S1049S|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1049 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTTGGCGAGGAGAGGTTTTGG 0.552000 3 50 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76814247 76814247 + Missense_Mutation SNP T T G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:76814247T>G ENST00000373344.5 - 29 6611 c.6397A>C c.(6397-6399)Att>Ctt p.I2133L ATRX_ENST00000395603.3_Missense_Mutation_p.I2095L|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2133 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCGAATATAATTACTCGATTA 0.333000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 5 169 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74423917 74423917 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr16:74423917C>G ENST00000429990.1 + 6 727 c.631C>G c.(631-633)Ctt>Gtt p.L211V nuclear pore complex interacting protein family, member B15 AAGAAAGCCTCTTTGCAACTG 0.453000 9 271 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91532466 91532466 + Missense_Mutation SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr10:91532466A>G ENST00000416354.1 + 32 5425 c.5353A>G c.(5353-5355)Atg>Gtg p.M1785V KIF20B_ENST00000260753.4_Missense_Mutation_p.M1715V|KIF20B_ENST00000371728.3_Missense_Mutation_p.M1755V|KIF20B_ENST00000478929.1_3'UTR Q96Q89 KI20B_HUMAN kinesin family member 20B 1755 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 AATTGAAACAATGAGCTCTTC 0.299000 3 58 0 0 1 0 0 NEU1 4758 broad.mit.edu 37 6 31828334 31828334 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr6:31828334C>G ENST00000375631.4 - 4 809 c.680G>C c.(679-681)gGa>gCa p.G227A NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN sialidase 1 (lysosomal sialidase) 227 G -> R (in SIALIDOSIS; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments). cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 Oseltamivir(DB00198)|Zanamivir(DB00558) ACAGAAGACTCCGTCCCGCTC 0.607000 3 65 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130419396 130419396 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:130419396C>T ENST00000370904.1 - 11 1307 c.397G>A c.(397-399)Gct>Act p.A133T IGSF1_ENST00000370900.1_Missense_Mutation_p.A142T|IGSF1_ENST00000361420.3_Missense_Mutation_p.A142T|IGSF1_ENST00000370903.3_Missense_Mutation_p.A142T|IGSF1_ENST00000370910.1_Missense_Mutation_p.A133T|IGSF1_ENST00000370901.4_Missense_Mutation_p.A142T Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 142 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCAGGAAGAGCGGGGGTCTCA 0.488000 4 62 0 0 1 0 0 C9orf163 158055 broad.mit.edu 37 9 139379239 139379239 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr9:139379239G>C ENST00000354376.1 + 1 1293 c.339G>C c.(337-339)ttG>ttC p.L113F NM_152571.2 NP_689784.1 Q8N9P6 CI163_HUMAN chromosome 9 open reading frame 163 113 protein binding kidney(1)|lung(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06) TGACCTGTTTGAACAGAGTTA 0.622000 OREG0019617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 43 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5772737 5772737 + Nonsense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr10:5772737C>T ENST00000328090.5 + 11 1400 c.775C>T c.(775-777)Cag>Tag p.Q259* RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 259 GTCTTTAACTCAGTTGAACTC 0.438000 5 152 0 0 1 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967158 106967158 + RNA SNP T T C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr14:106967158T>C ENST00000390622.2 - 0 545 CTGGAACTTCTGTGCGTAGCT 0.552000 10 208 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36365448 36365448 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:36365448G>A ENST00000221891.4 + 9 1291 c.1099G>A c.(1099-1101)Ggt>Agt p.G367S APLP1_ENST00000537454.2_Missense_Mutation_p.G328S|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.G361S NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 367 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCAGGTGTCTGGTGAGCGACA 0.637000 5 71 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76937182 76937182 + Missense_Mutation SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:76937182A>G ENST00000373344.5 - 9 3780 c.3566T>C c.(3565-3567)cTa>cCa p.L1189P ATRX_ENST00000395603.3_Missense_Mutation_p.L1151P|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1189 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GCTTGTTCTTAGGGAGTTTCT 0.373000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 235 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502691 140502691 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr5:140502691G>C ENST00000194152.1 + 1 1111 c.1111G>C c.(1111-1113)Gat>Cat p.D371H NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 371 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGAATTCGAGATAGAGATTC 0.403000 6 136 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50165493 50165493 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:50165493C>T ENST00000597198.1 - 6 1075 c.694G>A c.(694-696)Gaa>Aaa p.E232K IRF3_ENST00000599144.1_Missense_Mutation_p.E86K|IRF3_ENST00000377139.3_Missense_Mutation_p.E232K|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.E232K|IRF3_ENST00000593922.1_Missense_Mutation_p.E86K|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.E232K|IRF3_ENST00000598808.1_Missense_Mutation_p.E86K|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.E232K Q14653 IRF3_HUMAN interferon regulatory factor 3 232 Involved in HERC5 binding. interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) TCTCCCACTTCGGACCCCACC 0.637000 3 35 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065052 73065052 + RNA SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:73065052G>C ENST00000429829.1 - 0 7536 NR_001564.2 GGGAAAGGAAGATTGGGGGTG 0.498000 6 103 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435547 158435547 + Missense_Mutation SNP C C A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr1:158435547C>A ENST00000289451.2 + 1 276 c.196C>A c.(196-198)Ctt>Att p.L66I NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) CCTTGCCATCCTTTCTTGCTC 0.483000 4 77 0.00909568 0.00967626 1 1 0 TENM2 57451 broad.mit.edu 37 5 167545377 167545377 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr5:167545377G>C ENST00000519204.1 + 9 1649 c.1531G>C c.(1531-1533)Gag>Cag p.E511Q CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.E632Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E465Q|TENM2_ENST00000518659.1_Missense_Mutation_p.E632Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E400Q teneurin transmembrane protein 2 GAAAGGTGCAGAGTGCGACGT 0.567000 5 111 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 71 0 0 1 0 0 ZNF433 163059 broad.mit.edu 37 19 12125856 12125856 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:12125856C>G ENST00000419886.2 - 5 2012 c.1721G>C c.(1720-1722)gGa>gCa p.G574A ZNF433_ENST00000344980.6_Missense_Mutation_p.G609A|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 GTGAGTCCTTCCATGCATTTG 0.468000 4 118 0 0 1 0 0 PSMC4 5704 broad.mit.edu 37 19 40486588 40486588 + Silent SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:40486588G>A ENST00000157812.2 + 10 1305 c.1107G>A c.(1105-1107)aaG>aaA p.K369K PSMC4_ENST00000455878.2_Silent_p.K338K NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 369 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GGCCAGATAAGATTTCAGGAG 0.512000 5 74 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80374354 80374354 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr7:80374354C>T ENST00000265361.3 - 18 2673 c.2112G>A c.(2110-2112)atG>atA p.M704I SEMA3C_ENST00000419255.2_Missense_Mutation_p.M704I|SEMA3C_ENST00000544525.1_Missense_Mutation_p.M722I NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 704 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ATTGGTTAATCATCTGCATTT 0.502000 9 91 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76851817 76851817 + Missense_Mutation SNP C C A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr17:76851817C>A ENST00000262768.7 - 5 893 c.595G>T c.(595-597)Ggc>Tgc p.G199C TIMP2_ENST00000536189.2_Missense_Mutation_p.G122C|TIMP2_ENST00000585421.1_Missense_Mutation_p.G122C|TIMP2_ENST00000586057.1_Missense_Mutation_p.G122C|RP11-323N12.5_ENST00000587434.1_RNA NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 199 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) GCACAGGAGCCGTCACTTCTC 0.622000 3 45 0.004672 0.00502366 1 1 0 SDHAP1 255812 broad.mit.edu 37 3 195701278 195701278 + RNA SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr3:195701278C>T ENST00000427841.1 - 0 1546 NR_003264.2 CAGGCCTGCACGACTCTGCGA 0.537000 4 34 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231402124 231402124 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr1:231402124G>A ENST00000366647.4 + 8 1195 c.1026G>A c.(1024-1026)atG>atA p.M342I GNPAT_ENST00000366646.3_Missense_Mutation_p.M281I NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 342 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CTGGGAGGATGAGTCGGAGCT 0.428000 5 59 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27948941 27948941 + Missense_Mutation SNP T T C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr9:27948941T>C ENST00000379992.2 - 6 2178 c.1729A>G c.(1729-1731)Att>Gtt p.I577V LINGO2_ENST00000308675.3_Missense_Mutation_p.I577V NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 577 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TCAAGGTCAATGCTGTTTTTG 0.468000 9 69 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34942935 34942935 + Silent SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:34942935G>A ENST00000439527.2 + 10 1131 c.633G>A c.(631-633)ctG>ctA p.L211L UBA2_ENST00000246548.4_Silent_p.L307L Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 307 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) AGTTAGGCCTGAAAGACCAGC 0.373000 4 70 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17741479 17741479 + Missense_Mutation SNP C C A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:17741479C>A ENST00000428389.2 - 30 3772 c.3773G>T c.(3772-3774)cGa>cTa p.R1258L UNC13A_ENST00000552293.1_Missense_Mutation_p.R1170L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1170L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1170L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1168L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R1170L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1170 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CTTCTTGTCTCGCTCCAGGGC 0.542000 3 49 2.56e-06 2.8764e-06 1 1 0 FAM73B 84895 broad.mit.edu 37 9 131832211 131832211 + Missense_Mutation SNP G G T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr9:131832211G>T ENST00000358369.4 + 15 1768 c.1542G>T c.(1540-1542)aaG>aaT p.K514N FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR NM_032809.2 NP_116198.2 Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 514 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 TTGGACCCAAGCCTCAGCTTG 0.572000 6 185 0.0293803 0.0299799 1 1 0 BCAP29 55973 broad.mit.edu 37 7 107221229 107221229 + Silent SNP A A G rs79851050 by1000genomes TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr7:107221229A>G ENST00000379119.2 + 1 26 c.12A>G c.(10-12)caA>caG p.Q4Q BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000379117.2_Silent_p.Q4Q|BCAP29_ENST00000445771.2_Silent_p.Q4Q|BCAP29_ENST00000005259.4_Silent_p.Q4Q|BCAP29_ENST00000465919.1_Intron NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 4 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 TGACACTCCAATGGGCTGCAG 0.428000 3 48 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043702 184043702 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr3:184043702G>A ENST00000342981.4 + 20 3602 c.3188G>A c.(3187-3189)cGc>cAc p.R1063H EIF4G1_ENST00000350481.5_Missense_Mutation_p.R898H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1069H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1023H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R975H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1062H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1022H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1069H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R976H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1062H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1069H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R866H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R867H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R899H NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1062 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AAAGGTAGCCGCCCCATTGAC 0.507000 5 139 0 0 1 0 0 LRRC37A16P 651250 broad.mit.edu 37 17 66126418 66126418 + RNA SNP A A G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr17:66126418A>G ENST00000590019.1 - 0 343 CCTCAATGCTATTTTTAAATT 0.413000 4 284 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117862949 117862949 + Missense_Mutation SNP G G T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr8:117862949G>T ENST00000297338.2 - 12 1815 c.1528C>A c.(1528-1530)Cca>Aca p.P510T RAD21_ENST00000523986.1_Missense_Mutation_p.P14T|RAD21_ENST00000518055.1_Missense_Mutation_p.P55T NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 510 Pro-rich. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding p.P510T(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CAGATATTTGGAGGTTCTTCT 0.383000 4 78 0.150653 0.152175 1 1 0 NKRF 55922 broad.mit.edu 37 X 118723504 118723504 + Silent SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:118723504C>T ENST00000371527.1 - 2 2536 c.1884G>A c.(1882-1884)ctG>ctA p.L628L NKRF_ENST00000304449.5_Silent_p.L628L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.L643L NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 628 R3H. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 CATCATTAGTCAGCTCTCTAG 0.443000 5 112 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719675 140719675 + Silent SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr5:140719675C>T ENST00000394576.2 + 1 1137 c.1137C>T c.(1135-1137)aaC>aaT p.N379N PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGGCAGAACGCATTCACCA 0.433000 4 136 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44878061 44878061 + Nonsense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr1:44878061C>T ENST00000355387.2 + 2 742 c.292C>T c.(292-294)Caa>Taa p.Q98* RNF220_ENST00000372247.2_Nonsense_Mutation_p.Q98*|RNF220_ENST00000361799.2_Nonsense_Mutation_p.Q98* Q5VTB9 RN220_HUMAN ring finger protein 220 98 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CCTCCACCCTCAATTTGCTCC 0.547000 5 132 0 0 1 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6988808 6988808 + RNA SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr19:6988808C>T ENST00000600751.1 - 0 122 NR_024075.1 CTCCAGAATTCTTGGCTTCTG 0.522000 3 45 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68529087 68529087 + Missense_Mutation SNP C C A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr11:68529087C>A ENST00000265641.5 - 16 2098 c.1944G>T c.(1942-1944)atG>atT p.M648I CPT1A_ENST00000376618.2_Missense_Mutation_p.M648I|CPT1A_ENST00000540367.1_Missense_Mutation_p.M648I|CPT1A_ENST00000539743.1_Missense_Mutation_p.M648I NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 648 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CAGAGCCGGTCATGGCGAGGC 0.493000 8 110 0.00448238 0.00487215 1 1 0 MAGEA12 4111 broad.mit.edu 37 X 151900595 151900595 + Missense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:151900595G>A ENST00000393900.3 - 3 559 c.206C>T c.(205-207)tCc>tTc p.S69F MAGEA12_ENST00000357916.4_Missense_Mutation_p.S69F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.S69F NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 69 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAGGGTGGAGGCTCCCTG 0.592000 6 100 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275620 130275620 + Nonsense_Mutation SNP G G A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr11:130275620G>A ENST00000257359.6 - 9 3209 c.2503C>T c.(2503-2505)Cag>Tag p.Q835* NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 835 TSP type-1 2. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AGCACCCACTGTGCGTGGAGC 0.592000 4 74 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89590650 89590650 + Missense_Mutation SNP C C T TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr16:89590650C>T ENST00000268704.2 + 4 628 c.613C>T c.(613-615)Cgg>Tgg p.R205W SPG7_ENST00000341316.2_Missense_Mutation_p.R205W NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 205 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GGTGTTTGGGCGGCCTGTGAG 0.657000 4 127 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142542431 142542431 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr3:142542431G>C ENST00000295992.3 - 7 1198 c.892C>G c.(892-894)Caa>Gaa p.Q298E PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 298 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 CACTTTTGTTGACACAAGGCC 0.378000 4 133 0 0 1 0 0 TAF1B 9014 broad.mit.edu 37 2 10016135 10016135 + Nonsense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:10016135C>G ENST00000263663.5 + 7 883 c.695C>G c.(694-696)tCa>tGa p.S232* TAF1B_ENST00000396242.3_Intron NM_005680.2 NP_005671 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 232 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATAACACTTTCAGATCTTTTG 0.373000 5 128 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 5 316 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176519668 176519668 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr5:176519668G>C ENST00000292408.4 + 8 1185 c.940G>C c.(940-942)Gag>Cag p.E314Q FGFR4_ENST00000292410.3_Missense_Mutation_p.E314Q|FGFR4_ENST00000393648.2_Missense_Mutation_p.E314Q|FGFR4_ENST00000502906.1_Missense_Mutation_p.E314Q|FGFR4_ENST00000393637.1_Missense_Mutation_p.E314Q NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 314 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CAATAGCTCAGAGGTGGAGGT 0.642000 TSP Lung(9;0.080) 3 28 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56818822 56818822 + Missense_Mutation SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr12:56818822C>G ENST00000229201.4 - 14 1844 c.1690G>C c.(1690-1692)Gag>Cag p.E564Q TIMELESS_ENST00000553532.1_Missense_Mutation_p.E565Q|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 565 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TGTAGCTGCTCAGCCAGGGCT 0.517000 7 96 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196699053 196699053 + Missense_Mutation SNP G G C TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr2:196699053G>C ENST00000312428.6 - 48 9077 c.8977C>G c.(8977-8979)Cct>Gct p.P2993A NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2993 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGACTTTGAGGATCTATCATC 0.393000 7 80 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529118 102529118 + Missense_Mutation SNP T T A TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:102529118T>A ENST00000372680.1 - 3 668 c.374A>T c.(373-375)gAc>gTc p.D125V NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 GGGGGAATCGTCCGTCCCCCT 0.572000 4 117 0 0 1 0 0 CXorf40A 91966 broad.mit.edu 37 X 148628334 148628334 + Silent SNP C C G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chrX:148628334C>G ENST00000441248.1 + 4 1890 c.303C>G c.(301-303)ccC>ccG p.P101P CXorf40A_ENST00000428236.1_Silent_p.P39P|CXorf40A_ENST00000422892.2_Silent_p.P101P|CXorf40A_ENST00000423421.1_Silent_p.P101P|CXorf40A_ENST00000423540.2_Silent_p.P101P|CXorf40A_ENST00000514208.1_Silent_p.P101P|CXorf40A_ENST00000450602.2_Silent_p.P101P|CXorf40A_ENST00000359293.5_Silent_p.P101P|CXorf40A_ENST00000393985.3_Silent_p.P101P|CXorf40A_ENST00000434353.2_Silent_p.P101P Q8TE69 CX04A_HUMAN chromosome X open reading frame 40A 101 protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ACTTAACTCCCGATGAGGTTG 0.468000 4 56 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 6 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-XF-AAN4-01A-11D-A42E-08 TCGA-XF-AAN4-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef58d603-784f-406e-b97d-ab2ce298601d a06ce9e1-7c84-4520-aa93-bedc1d91a0f6 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---