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 MIF4GD 57409 broad.mit.edu 37 17 73264170 73264170 + Silent SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:73264170G>T ENST00000577542.1 - 4 571 c.309C>A c.(307-309)atC>atA p.I103I MIF4GD_ENST00000578305.1_Intron|MIF4GD_ENST00000245551.5_Silent_p.I96I|MIF4GD_ENST00000579119.1_Silent_p.I62I|MIF4GD_ENST00000325102.8_Silent_p.I62I|MIF4GD_ENST00000580571.1_Silent_p.I62I|MIF4GD_ENST00000579297.1_Silent_p.I103I A9UHW6 MI4GD_HUMAN MIF4G domain containing 62 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CAACCTGAATGATGGCGTAGC 0.562000 5 136 0.184627 0.188247 0.184627 1 0 OR5R1 219479 broad.mit.edu 37 11 56185534 56185534 + Missense_Mutation SNP T T A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:56185534T>A ENST00000312253.1 - 1 174 c.175A>T c.(175-177)Atg>Ttg p.M59L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AAATAGTACATAGGTGTGTGG 0.438000 10 73 0 0 0.387290 0 0 CACHD1 57685 broad.mit.edu 37 1 65099811 65099811 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:65099811G>A ENST00000371073.2 + 7 874 c.874G>A c.(874-876)Gag>Aag p.E292K CACHD1_ENST00000290039.5_Missense_Mutation_p.E241K|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 292 VWFA. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGCCACCAGTGAGACAAAAAG 0.473000 7 70 0 0 0.248553 0 0 LSR 51599 broad.mit.edu 37 19 35758624 35758624 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:35758624G>A ENST00000602122.1 + 8 2328 c.1841G>A c.(1840-1842)cGc>cAc p.R614H LSR_ENST00000354900.3_Missense_Mutation_p.R615H|LSR_ENST00000361790.3_Missense_Mutation_p.R634H|LSR_ENST00000347609.4_Missense_Mutation_p.R576H|LSR_ENST00000427250.1_Missense_Mutation_p.R478H|LSR_ENST00000360798.3_Missense_Mutation_p.R566H Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 634 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TCCCGAGAGCGCAGGCTCAAG 0.692000 4 151 0 0 0.150653 0 0 ISLR2 57611 broad.mit.edu 37 15 74427051 74427051 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:74427051C>T ENST00000361742.3 + 4 2725 c.1956C>T c.(1954-1956)ctC>ctT p.L652L ISLR2_ENST00000565159.1_Silent_p.L652L|ISLR2_ENST00000435464.1_Silent_p.L652L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Silent_p.L652L|ISLR2_ENST00000453268.2_Silent_p.L652L|ISLR2_ENST00000445793.1_Silent_p.L652L|ISLR2_ENST00000565540.1_Silent_p.L652L NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 652 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CTTCGTACCTCGAGTCCGAGA 0.677000 OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 101 0 0 0.278610 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99339876 99339876 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:99339876G>T ENST00000408927.3 + 10 1221 c.1108G>T c.(1108-1110)Gta>Tta p.V370L RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V321L|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V279L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V322L NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 370 binding|GTPase activator activity p.V371L(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GGACAGACATGTAGAAGATGG 0.378000 T NUP98 T-ALL 3 77 0.00024832 0.000273283 0.150653 1 0 EMILIN1 11117 broad.mit.edu 37 2 27306220 27306220 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:27306220G>A ENST00000380320.4 + 4 2280 c.1781G>A c.(1780-1782)cGc>cAc p.R594H NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 594 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAACTAGGCCGCCTTCGGGAT 0.697000 19 97 0 0 0.557998 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42144745 42144745 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:42144745G>C ENST00000444063.1 + 4 652 c.520G>C c.(520-522)Gaa>Caa p.E174Q L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E174Q|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E242Q|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E242Q|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E174Q Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 174 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 GAAGCAAGAAGAAGGAAAGGA 0.552000 5 73 0 0 0.217242 0 0 SUPT5H 6829 broad.mit.edu 37 19 39964120 39964120 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:39964120G>C ENST00000599117.1 + 26 2818 c.2451G>C c.(2449-2451)caG>caC p.Q817H SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q817H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q813H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q817H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q813H O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 817 9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTCCTGCCCAGAGTGGGGCCT 0.632000 13 107 0 0 0.411799 0 0 MKKS 8195 broad.mit.edu 37 20 10393844 10393844 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:10393844G>C ENST00000347364.2 - 3 1081 c.319C>G c.(319-321)Cag>Gag p.Q107E NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome 107 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 CCTAATCTCTGAACATTTTCA 0.393000 10 90 0 0 0.361761 0 0 AGA 175 broad.mit.edu 37 4 178358644 178358644 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:178358644G>A ENST00000264595.2 - 5 664 c.537C>T c.(535-537)tgC>tgT p.C179C AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 179 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) TGTAGGGTCCGCAGTATTTTG 0.338000 4 88 0 0 0.184627 0 0 KCNT1 57582 broad.mit.edu 37 9 138667243 138667243 + Nonsense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:138667243C>A ENST00000298480.5 + 20 2405 c.2331C>A c.(2329-2331)tgC>tgA p.C777* KCNT1_ENST00000490355.2_Nonsense_Mutation_p.C756*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.C758*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.C758*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.C732*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.C736*|KCNT1_ENST00000371757.2_Nonsense_Mutation_p.C777*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.C744* B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 777 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCCCCTTCTGCTGCCTGCGGC 0.652000 4 100 0.150653 0.154364 0.150653 1 0 EBF1 1879 broad.mit.edu 37 5 158223429 158223429 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:158223429G>A ENST00000313708.6 - 9 1115 c.833C>T c.(832-834)gCg>gTg p.A278V EBF1_ENST00000380654.4_Missense_Mutation_p.A247V|EBF1_ENST00000517373.1_Missense_Mutation_p.A270V|EBF1_ENST00000518836.1_5'UTR NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 278 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GATCACAGTCGCACCTCCCGT 0.463000 T HMGA2 lipoma 8 89 0 0 0.307466 0 0 HOXB3 3213 broad.mit.edu 37 17 46627999 46627999 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:46627999C>T ENST00000470495.1 - 2 2440 c.993G>A c.(991-993)ccG>ccA p.P331P HOXB3_ENST00000498678.1_Silent_p.P331P|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000311626.4_Silent_p.P331P|HOXB3_ENST00000485909.2_Silent_p.P199P|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Silent_p.P197P|HOXB3_ENST00000476342.1_Silent_p.P331P|HOXB3_ENST00000472863.1_Silent_p.P258P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.P199P|HOXB3_ENST00000489475.1_Silent_p.P258P P14651 HXB3_HUMAN homeobox B3 331 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GGAGGACGTGCGGCTCATACT 0.716000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 70 0 0 0.115264 0 0 DST 667 broad.mit.edu 37 6 56505121 56505121 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56505121G>T ENST00000370754.5 - 17 2210 c.2211C>A c.(2209-2211)ttC>ttA p.F737L DST_ENST00000244364.6_Missense_Mutation_p.F233L|DST_ENST00000361203.3_Missense_Mutation_p.F559L|DST_ENST00000370788.2_Missense_Mutation_p.F559L|DST_ENST00000312431.6_Missense_Mutation_p.F559L|DST_ENST00000370765.6_Missense_Mutation_p.F233L|DST_ENST00000446842.2_Missense_Mutation_p.F233L|DST_ENST00000421834.2_Missense_Mutation_p.F559L|DST_ENST00000518935.1_Missense_Mutation_p.F233L|DST_ENST00000370769.4_Missense_Mutation_p.F559L Q03001 DYST_HUMAN dystonin 559 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCCTGATGGGAAACCAGGTG 0.443000 11 141 2.61681e-11 3.14623e-11 0.457914 1 0 PDE4B 5142 broad.mit.edu 37 1 66833700 66833700 + Silent SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:66833700T>C ENST00000423207.2 + 13 2054 c.1569T>C c.(1567-1569)gtT>gtC p.V523V PDE4B_ENST00000371049.3_Silent_p.V538V|PDE4B_ENST00000480109.2_Silent_p.V305V|PDE4B_ENST00000371045.5_Silent_p.V366V|PDE4B_ENST00000329654.4_Silent_p.V538V NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 538 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CGAAGAAAGTTACAAGTTCAG 0.388000 12 90 0 0 0.435327 0 0 CNGA3 1261 broad.mit.edu 37 2 99012566 99012566 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:99012566C>T ENST00000393504.1 + 8 1350 c.933C>T c.(931-933)ctC>ctT p.L311L CNGA3_ENST00000436404.2_Silent_p.L293L|CNGA3_ENST00000409937.1_Silent_p.L315L|CNGA3_ENST00000272602.2_Silent_p.L311L NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 311 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TGTACATTCTCATCATCATCC 0.458000 17 175 0 0 0.539581 0 0 CTNND1 1500 broad.mit.edu 37 11 57569359 57569359 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:57569359G>T ENST00000524630.1 + 7 1624 c.1111G>T c.(1111-1113)Gtg>Ttg p.V371L CTNND1_ENST00000533667.1_Missense_Mutation_p.V48L|CTNND1_ENST00000530094.1_Missense_Mutation_p.V270L|CTNND1_ENST00000532787.1_Missense_Mutation_p.V270L|CTNND1_ENST00000426142.2_Missense_Mutation_p.V270L|CTNND1_ENST00000529526.1_Missense_Mutation_p.V317L|CTNND1_ENST00000526772.1_Missense_Mutation_p.V48L|CTNND1_ENST00000399050.4_Missense_Mutation_p.V371L|CTNND1_ENST00000528621.1_Missense_Mutation_p.V317L|CTNND1_ENST00000528232.1_Missense_Mutation_p.V270L|CTNND1_ENST00000531014.1_Missense_Mutation_p.V48L|CTNND1_ENST00000527467.1_Missense_Mutation_p.V48L|CTNND1_ENST00000399039.4_Missense_Mutation_p.V371L|CTNND1_ENST00000532463.1_Missense_Mutation_p.V270L|CTNND1_ENST00000532844.1_Missense_Mutation_p.V317L|CTNND1_ENST00000532649.1_Missense_Mutation_p.V317L|CTNND1_ENST00000529986.1_Missense_Mutation_p.V270L|CTNND1_ENST00000415361.2_Missense_Mutation_p.V270L|CTNND1_ENST00000428599.2_Missense_Mutation_p.V371L|CTNND1_ENST00000534579.1_Missense_Mutation_p.V317L|CTNND1_ENST00000526938.1_Missense_Mutation_p.V371L|CTNND1_ENST00000532245.1_Missense_Mutation_p.V270L|CTNND1_ENST00000358694.6_Missense_Mutation_p.V371L|CTNND1_ENST00000525902.1_Missense_Mutation_p.V48L|CTNND1_ENST00000361391.6_Missense_Mutation_p.V371L|CTNND1_ENST00000530748.1_Missense_Mutation_p.V317L|CTNND1_ENST00000361332.4_Missense_Mutation_p.V371L|CTNND1_ENST00000529919.1_Missense_Mutation_p.V371L|CTNND1_ENST00000360682.6_Missense_Mutation_p.V371L|CTNND1_ENST00000526357.1_Missense_Mutation_p.V317L|CTNND1_ENST00000529873.1_Missense_Mutation_p.V317L|CTNND1_ENST00000361796.4_Missense_Mutation_p.V371L O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 371 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) GCTGCCAGAGGTGATCGCCAT 0.537000 6 104 0.000157383 0.000174126 0.278610 1 0 PITPNC1 26207 broad.mit.edu 37 17 65688860 65688860 + Silent SNP C C T rs146560406 by1000genomes TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:65688860C>T ENST00000335257.6 + 9 1202 c.855C>T c.(853-855)ccC>ccT p.P285P PITPNC1_ENST00000581322.1_Silent_p.P285P|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 285 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CAGACGCACCCGAATTTCTGT 0.557000 7 170 0 0 0.248553 0 0 SSRP1 6749 broad.mit.edu 37 11 57094220 57094220 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:57094220G>A ENST00000278412.2 - 16 2281 c.2015C>T c.(2014-2016)tCt>tTt p.S672F RP11-872D17.4_ENST00000534162.1_RNA NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 672 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CTCTCCCGAAGAGCTCTCATC 0.552000 6 146 0 0 0.248553 0 0 KCNA3 3738 broad.mit.edu 37 1 111216803 111216803 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:111216803G>A ENST00000369769.2 - 1 852 c.629C>T c.(628-630)cCc>cTc p.P210L NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 210 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGGGGCAAGGGCCGCTCCTC 0.677000 4 55 0 0 0.361761 0 0 C9orf47 286223 broad.mit.edu 37 9 91605992 91605992 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:91605992C>G ENST00000375851.2 + 1 215 c.82C>G c.(82-84)Cga>Gga p.R28G C9orf47_ENST00000334490.5_Missense_Mutation_p.R28G|C9orf47_ENST00000375850.3_Missense_Mutation_p.R28G NM_001001938.3|NM_001142413.1 NP_001001938.1|NP_001135885.1 Q6ZRZ4 CI047_HUMAN chromosome 9 open reading frame 47 28 extracellular region endometrium(1)|large_intestine(1)|liver(1)|lung(1) 4 GCTGTCAGGGCGACAGGCGCC 0.567000 7 50 0 0 0.248553 0 0 HYOU1 10525 broad.mit.edu 37 11 118921809 118921809 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:118921809C>T ENST00000404233.3 - 14 1727 c.1603G>A c.(1603-1605)Gag>Aag p.E535K HYOU1_ENST00000529972.1_Missense_Mutation_p.E535K|HYOU1_ENST00000543287.1_Missense_Mutation_p.E448K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E535K NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 535 endoplasmic reticulum lumen ATP binding|protein binding p.E535K(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CCCTTGGACTCGTAGTCAGGA 0.527000 6 81 0 0 0.248553 0 0 DST 667 broad.mit.edu 37 6 56504792 56504792 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56504792G>T ENST00000370754.5 - 18 2454 c.2455C>A c.(2455-2457)Cat>Aat p.H819N DST_ENST00000244364.6_Missense_Mutation_p.H315N|DST_ENST00000361203.3_Missense_Mutation_p.H641N|DST_ENST00000370788.2_Missense_Mutation_p.H641N|DST_ENST00000312431.6_Missense_Mutation_p.H641N|DST_ENST00000370765.6_Missense_Mutation_p.H315N|DST_ENST00000446842.2_Missense_Mutation_p.H315N|DST_ENST00000421834.2_Missense_Mutation_p.H641N|DST_ENST00000518935.1_Missense_Mutation_p.H315N|DST_ENST00000370769.4_Missense_Mutation_p.H641N Q03001 DYST_HUMAN dystonin 641 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACATTTTTATGATTTTCTAAA 0.308000 7 116 0.000157383 0.000174126 0.278610 1 0 SLC9C1 285335 broad.mit.edu 37 3 111981806 111981806 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:111981806C>T ENST00000305815.5 - 10 1414 c.1162G>A c.(1162-1164)Gat>Aat p.D388N SLC9C1_ENST00000487372.1_Missense_Mutation_p.D340N NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 388 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity AAATAAAGATCAGAGTAGGCA 0.333000 7 68 0 0 0.278610 0 0 OBSCN 84033 broad.mit.edu 37 1 228487214 228487214 + Missense_Mutation SNP A A C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:228487214A>C ENST00000570156.2 + 50 13539 c.13465A>C c.(13465-13467)Act>Cct p.T4489P OBSCN_ENST00000366707.4_Missense_Mutation_p.T1179P|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3532 Ig-like 46. H -> Q (in Ref. 1; CAC44768). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCTACACTCACTGTCAGGGG 0.547000 9 142 0 0 0.307466 0 0 EPS8 2059 broad.mit.edu 37 12 15776179 15776179 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:15776179G>T ENST00000281172.5 - 20 2704 c.2268C>A c.(2266-2268)ttC>ttA p.F756L EPS8_ENST00000543612.1_Missense_Mutation_p.F756L|EPS8_ENST00000543523.1_Missense_Mutation_p.F756L|EPS8_ENST00000542903.1_Missense_Mutation_p.F496L|EPS8_ENST00000540613.1_Missense_Mutation_p.F496L NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 756 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TATTGAGAGAGAAAAGTTGTG 0.378000 19 120 1.67942e-08 1.96246e-08 0.539581 1 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 79 0 0 0.150653 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144952292 144952292 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:144952292T>C ENST00000369359.4 - 7 876 c.838A>G c.(838-840)Aaa>Gaa p.K280E PDE4DIP_ENST00000369349.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K209E|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K280E|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.K280E Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 143 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCCTTCAGTTTCTCTGAGAGC 0.532000 T PDGFRB MPD 3 122 0 0 0.184627 0 0 MYH9 4627 broad.mit.edu 37 22 36712581 36712581 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr22:36712581G>A ENST00000216181.5 - 12 1591 c.1361C>T c.(1360-1362)gCc>gTc p.A454V NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 454 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CTCGAAGCCGGCAATGTCCAG 0.562000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 4 236 0 0 0.150653 0 0 ZNF660 285349 broad.mit.edu 37 3 44635868 44635868 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:44635868G>A ENST00000322734.2 + 3 516 c.183G>A c.(181-183)caG>caA p.Q61Q RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CCTTTAGTCAGAGTGCAAACC 0.438000 6 63 0 0 0.217242 0 0 PTRH2 51651 broad.mit.edu 37 17 57775074 57775074 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:57775074G>A ENST00000470557.2 - 1 3712 c.266C>T c.(265-267)gCt>gTt p.A89V PTRH2_ENST00000409433.2_Missense_Mutation_p.A90V|PTRH2_ENST00000393038.2_Missense_Mutation_p.A89V|PTRH2_ENST00000537860.1_Missense_Mutation_p.A89V Q9Y3E5 PTH2_HUMAN peptidyl-tRNA hydrolase 2 89 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity large_intestine(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TGAAACAGCAGCATGAGAGCA 0.478000 35 251 0 0 0.788014 0 0 COL11A1 1301 broad.mit.edu 37 1 103355090 103355090 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:103355090C>G ENST00000358392.2 - 59 4738 c.4421G>C c.(4420-4422)gGt>gCt p.G1474A COL11A1_ENST00000370096.3_Missense_Mutation_p.G1462A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1423A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1346A NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1462 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGAGGACCAATCAGGCC 0.388000 14 156 0 0 0.479597 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12812249 12812249 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:12812249G>C ENST00000379672.5 + 4 534 c.234G>C c.(232-234)ctG>ctC p.L78L ARHGAP44_ENST00000340825.3_Silent_p.L78L|ARHGAP44_ENST00000262444.9_Silent_p.L78L NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 78 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 CTCAGTGTCTGATGGAGGGGT 0.428000 21 337 0 0 0.624587 0 0 GPATCH2L 55668 broad.mit.edu 37 14 76644359 76644359 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:76644359C>G ENST00000261530.7 + 7 1147 c.1081C>G c.(1081-1083)Cct>Gct p.P361A GPATCH2L_ENST00000312858.5_Intron NM_017926.2 NP_060396.2 G patch domain containing 2-like TTCTGATTTTCCTCACATTTC 0.338000 3 125 0 0 0.150653 0 0 DNAJC14 85406 broad.mit.edu 37 12 56221277 56221277 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56221277C>T ENST00000357606.3 - 3 1455 c.1166G>A c.(1165-1167)cGg>cAg p.R389Q DNAJC14_ENST00000317269.3_Missense_Mutation_p.R389Q|RP11-762I7.5_ENST00000546837.1_Silent_p.A18A|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R389Q Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 389 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 TCTTACCAGCCGCTGCCATGG 0.547000 7 157 0 0 0.278610 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88940312 88940312 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:88940312G>A ENST00000375961.2 - 12 1940 c.1726C>T c.(1726-1728)Cgt>Tgt p.R576C ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R576C|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R453C Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 576 PAP-associated 1. RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TCTTTGACACGAATACTTATC 0.423000 4 137 0 0 0.150653 0 0 ABCA7 10347 broad.mit.edu 37 19 1043251 1043251 + Splice_Site SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:1043251G>A ENST00000263094.6 + 8 1021 c.e8+1 ABCA7_ENST00000433129.1_Splice_Site|ABCA7_ENST00000435683.2_Splice_Site NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGCCTGAGTGAGTGACTG 0.657000 17 168 0 0 0.520397 0 0 KALRN 8997 broad.mit.edu 37 3 124114033 124114033 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:124114033G>T ENST00000360013.3 + 12 2135 c.2008G>T c.(2008-2010)Gca>Tca p.A670S KALRN_ENST00000460856.1_Missense_Mutation_p.A670S|KALRN_ENST00000240874.3_Missense_Mutation_p.A670S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 670 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGATGTCTGTGCAGATTCTGT 0.517000 5 65 0.014758 0.0156615 0.184627 1 0 TOR3A 64222 broad.mit.edu 37 1 179064256 179064256 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:179064256T>C ENST00000367627.3 + 6 1849 c.1097T>C c.(1096-1098)aTa>aCa p.I366T TOR3A_ENST00000352445.6_Intron NM_022371.3 NP_071766.2 Q9H497 TOR3A_HUMAN torsin family 3, member A 366 chaperone mediated protein folding requiring cofactor endoplasmic reticulum ATP binding endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1) 13 CTGGATGAAATAGCCCAGATG 0.507000 27 311 0 0 0.681144 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714638 138714638 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:138714638G>A ENST00000389532.4 - 11 1933 c.1869C>T c.(1867-1869)atC>atT p.I623I CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.I345I|CAMSAP1_ENST00000409386.3_Silent_p.I634I NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 623 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCCTAGACACGATGCTCCTCG 0.547000 11 138 0 0 0.387290 0 0 ADCY8 114 broad.mit.edu 37 8 131880122 131880122 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:131880122G>A ENST00000286355.5 - 9 4272 c.2180C>T c.(2179-2181)aCg>aTg p.T727M ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 727 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTGTATTGCCGTGATAAATAG 0.353000 HNSCC(32;0.087) 18 113 0 0 0.575678 0 0 MALAT1 378938 broad.mit.edu 37 11 65266792 65266792 + RNA SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:65266792C>A ENST00000534336.1 + 0 1560 NR_002819.2 GATGAAGCTTCTTCATGGAGT 0.328000 4 12 0.00909568 0.00975207 0.150653 1 0 ANGEL1 23357 broad.mit.edu 37 14 77269772 77269772 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:77269772G>A ENST00000251089.2 - 7 1672 c.1560C>T c.(1558-1560)atC>atT p.I520I ANGEL1_ENST00000557179.1_Silent_p.I85I NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 520 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) GCTGACAAGCGATGCTGCAGA 0.473000 5 91 0 0 0.217242 0 0 CELF1 10658 broad.mit.edu 37 11 47508744 47508744 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:47508744C>G ENST00000395290.2 - 2 237 c.228G>C c.(226-228)caG>caC p.Q76H CELF1_ENST00000361904.3_Missense_Mutation_p.Q76H|CELF1_ENST00000358597.3_Missense_Mutation_p.Q76H|CELF1_ENST00000395292.2_Missense_Mutation_p.Q76H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q103H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q103H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q76H NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 76 RRM 1. embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 GAAGAGCATTCTGAGCTTCTA 0.373000 4 187 0 0 0.217242 0 0 UMOD 7369 broad.mit.edu 37 16 20352551 20352551 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:20352551G>A ENST00000396134.2 - 8 1661 c.1538C>T c.(1537-1539)tCc>tTc p.S513F UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.S513F|UMOD_ENST00000396138.4_Missense_Mutation_p.S529F|UMOD_ENST00000302509.4_Missense_Mutation_p.S480F|UMOD_ENST00000396142.2_Missense_Mutation_p.S480F|UMOD_ENST00000570689.1_Missense_Mutation_p.S480F NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 480 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGCCTCAGTGGACAGTGTCAC 0.587000 7 65 0 0 0.248553 0 0 TIMELESS 8914 broad.mit.edu 37 12 56815188 56815188 + Nonsense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56815188C>A ENST00000229201.4 - 23 2966 c.2812G>T c.(2812-2814)Gag>Tag p.E938* TIMELESS_ENST00000553532.1_Nonsense_Mutation_p.E939*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.E436* NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 939 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 TCCCGCCGCTCAGCCACCAGC 0.512000 11 205 4.3838e-07 5.03774e-07 0.435327 1 0 NES 10763 broad.mit.edu 37 1 156640663 156640663 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:156640663C>A ENST00000368223.3 - 4 3449 c.3317G>T c.(3316-3318)gGa>gTa p.G1106V NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1106 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCCAGCCCTCCCACCCCCTG 0.657000 12 62 1.5842e-08 1.86166e-08 0.435327 1 0 LRP2 4036 broad.mit.edu 37 2 170042510 170042510 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:170042510G>T ENST00000263816.3 - 50 9633 c.9348C>A c.(9346-9348)gaC>gaA p.D3116E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3116 EGF-like 11. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGATTGAAGGGTCATGGCATT 0.418000 19 76 2.39187e-15 2.96137e-15 0.575678 1 0 SYNE1 23345 broad.mit.edu 37 6 152469388 152469388 + Silent SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:152469388A>G ENST00000367255.5 - 137 25369 c.24768T>C c.(24766-24768)aaT>aaC p.N8256N SYNE1_ENST00000448038.1_Silent_p.N8185N|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.N7868N|SYNE1_ENST00000356820.4_Silent_p.N2780N|SYNE1_ENST00000354674.4_Silent_p.N411N|SYNE1_ENST00000539504.1_Silent_p.N411N|SYNE1_ENST00000265368.4_Silent_p.N8256N|SYNE1_ENST00000423061.1_Silent_p.N8185N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8256 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGAGGGAGAGATTGGAGGAAG 0.632000 HNSCC(10;0.0054) 6 85 0 0 0.278610 0 0 ERCC2 2068 broad.mit.edu 37 19 45860923 45860923 + Silent SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:45860923T>C ENST00000391945.4 - 13 1349 c.1272A>G c.(1270-1272)agA>agG p.R424R ERCC2_ENST00000391944.3_Silent_p.R346R NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 424 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGGTCGGGGTTCTGTCGTCAA 0.637000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 8 65 0 0 0.278610 0 0 DST 667 broad.mit.edu 37 6 56505218 56505218 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56505218G>A ENST00000370754.5 - 17 2113 c.2114C>T c.(2113-2115)aCa>aTa p.T705I DST_ENST00000244364.6_Missense_Mutation_p.T201I|DST_ENST00000361203.3_Missense_Mutation_p.T527I|DST_ENST00000370788.2_Missense_Mutation_p.T527I|DST_ENST00000312431.6_Missense_Mutation_p.T527I|DST_ENST00000370765.6_Missense_Mutation_p.T201I|DST_ENST00000446842.2_Missense_Mutation_p.T201I|DST_ENST00000421834.2_Missense_Mutation_p.T527I|DST_ENST00000518935.1_Missense_Mutation_p.T201I|DST_ENST00000370769.4_Missense_Mutation_p.T527I Q03001 DYST_HUMAN dystonin 527 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAGGGAAGGTGTTAAACTCTG 0.478000 14 169 0 0 0.457914 0 0 PBRM1 55193 broad.mit.edu 37 3 52643617 52643617 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:52643617C>T ENST00000356770.4 - 15 2185 c.2183G>A c.(2182-2184)cGc>cAc p.R728H PBRM1_ENST00000409057.1_Missense_Mutation_p.R760H|PBRM1_ENST00000409114.3_Missense_Mutation_p.R775H|PBRM1_ENST00000296302.7_Missense_Mutation_p.R760H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R760H|PBRM1_ENST00000409767.1_Missense_Mutation_p.R775H|PBRM1_ENST00000394830.3_Missense_Mutation_p.R760H|PBRM1_ENST00000337303.4_Missense_Mutation_p.R760H Q86U86 PB1_HUMAN polybromo 1 760 Bromo 5. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CAGGTCTCTGCGTGTTTCAAG 0.423000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 19 124 0 0 0.539581 0 0 TMEM184C 55751 broad.mit.edu 37 4 148539207 148539207 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:148539207G>A ENST00000296582.3 + 1 674 c.100G>A c.(100-102)Gtg>Atg p.V34M TMEM184C_ENST00000508208.1_Missense_Mutation_p.V34M NM_018241.2 NP_060711.2 Q9NVA4 T184C_HUMAN transmembrane protein 184C 34 integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1) 16 TCCCCTATGCGTGTGGGAATT 0.502000 OREG0016353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 278 0 0 0.457914 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67854801 67854801 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:67854801G>C ENST00000388833.3 + 3 422 c.45G>C c.(43-45)caG>caC p.Q15H TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.Q69H NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 15 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) CCAGTGGCCAGACCATTTTGC 0.577000 41 489 0 0 0.870114 0 0 MEP1A 4224 broad.mit.edu 37 6 46761185 46761185 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:46761185C>T ENST00000230588.4 + 1 59 c.50C>T c.(49-51)gCc>gTc p.A17V NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 17 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.A17V(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TTGCTTTTTGCCCACATAGCA 0.348000 4 243 0 0 0.184627 0 0 GOLIM4 27333 broad.mit.edu 37 3 167742808 167742808 + Nonsense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:167742808G>A ENST00000470487.1 - 13 2388 c.1699C>T c.(1699-1701)Caa>Taa p.Q567* GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.Q539* NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 567 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TCTCTCACTTGCTCGGCTTCT 0.373000 29 269 0 0 0.706142 0 0 HTRA1 5654 broad.mit.edu 37 10 124266371 124266371 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:124266371G>A ENST00000368984.3 + 4 1070 c.942G>A c.(940-942)atG>atA p.M314I NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 314 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ACTCAGACATGGACTACATCC 0.602000 15 78 0 0 0.539581 0 0 ZNF329 79673 broad.mit.edu 37 19 58639690 58639690 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:58639690G>A ENST00000598312.1 - 4 1414 c.1181C>T c.(1180-1182)tCt>tTt p.S394F ZNF329_ENST00000358067.4_Missense_Mutation_p.S394F NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TTTCTCCCCAGAATGGATCTT 0.468000 18 177 0 0 0.557998 0 0 TAGLN 6876 broad.mit.edu 37 11 117075006 117075006 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:117075006G>A ENST00000532870.1 + 4 1678 c.537G>A c.(535-537)atG>atA p.M179I TAGLN_ENST00000392951.4_Missense_Mutation_p.M179I|TAGLN_ENST00000530649.1_Missense_Mutation_p.M179I Q01995 TAGL_HUMAN transgelin 179 M -> V (in Ref. 2; AAA58375). muscle organ development cytoplasm actin binding central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1) 7 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435) GCCTTCAGATGGGCAGCAACA 0.587000 3 99 0 0 0.115264 0 0 TMEM63C 57156 broad.mit.edu 37 14 77685844 77685844 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:77685844G>A ENST00000298351.4 + 4 298 c.154G>A c.(154-156)Gtc>Atc p.V52I RP11-463C8.4_ENST00000557752.1_3'UTR NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 52 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCTGTAGCTCGTCCTTGTGGT 0.592000 17 155 0 0 0.520397 0 0 SUZ12 23512 broad.mit.edu 37 17 30321584 30321584 + Splice_Site SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:30321584A>G ENST00000322652.5 + 13 1668 c.1437_splice c.e13-1 p.Y480_splice SUZ12_ENST00000580398.1_Splice_Site_p.Y457_splice NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 480 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TTGTTGCAGTATCATCCAAAA 0.323000 T JAZF1 endometrial stromal tumours 7 75 0 0 0.278610 0 0 RSPH4A 345895 broad.mit.edu 37 6 116949382 116949382 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:116949382G>C ENST00000229554.5 + 3 1649 c.1512G>C c.(1510-1512)caG>caC p.Q504H RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.Q504H NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 504 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GATTTTATCAGTTTGGTGAAG 0.453000 Kartagener syndrome 12 136 0 0 0.387290 0 0 SUN1 23353 broad.mit.edu 37 7 883166 883166 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:883166C>G ENST00000457378.2 + 7 966 c.730C>G c.(730-732)Cag>Gag p.Q244E SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000403868.1_Missense_Mutation_p.Q223E|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000456758.2_Intron NM_001171945.1 NP_001165416.1 O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 EMD-binding.|SYNE2-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATGTAAGTCTCAGTCCTTTAA 0.458000 20 242 0 0 0.557998 0 0 OR6C70 390327 broad.mit.edu 37 12 55863666 55863666 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:55863666C>T ENST00000327335.4 - 1 256 c.257G>A c.(256-258)aGg>aAg p.R86K RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GGTCTTTTCCCTGGTAACAAT 0.378000 18 131 0 0 0.520397 0 0 PSG4 5672 broad.mit.edu 37 19 43699348 43699348 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:43699348C>T ENST00000405312.3 - 4 1024 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG4_ENST00000433626.2_Missense_Mutation_p.E170K|PSG4_ENST00000244295.9_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 263 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.453000 39 416 0 0 0.804634 0 0 PREX2 80243 broad.mit.edu 37 8 69021852 69021852 + Missense_Mutation SNP T T G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:69021852T>G ENST00000288368.4 + 25 3417 c.3140T>G c.(3139-3141)aTa>aGa p.I1047R NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1047 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GTTTGTCAAATAGATGAGTAA 0.348000 34 99 0 0 0.769981 0 0 OR2T33 391195 broad.mit.edu 37 1 248436962 248436962 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:248436962C>T ENST00000318021.2 - 1 176 c.155G>A c.(154-156)cGg>cAg p.R52Q NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CGTGTGGAGCCGGTGGTCCCA 0.527000 33 200 0 0 0.864702 0 0 INTS5 80789 broad.mit.edu 37 11 62416747 62416747 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:62416747G>C ENST00000330574.2 - 2 857 c.805C>G c.(805-807)Cag>Gag p.Q269E NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 269 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GAGGGGGTCTGAGAAGAGCTT 0.577000 4 70 0 0 0.150653 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57992919 57992919 + Silent SNP C C T rs147041101 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:57992919C>T ENST00000354947.5 + 5 601 c.585C>T c.(583-585)aaC>aaT p.N195N PIP4K2C_ENST00000550465.1_Silent_p.N177N|PIP4K2C_ENST00000540759.2_Silent_p.N195N|PIP4K2C_ENST00000422156.3_Silent_p.N147N Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 195 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) GTGTGGACAACGAAGACAGCT 0.512000 14 138 0 0 0.435327 0 0 SLPI 6590 broad.mit.edu 37 20 43882277 43882277 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:43882277C>T ENST00000338380.2 - 2 203 c.183G>A c.(181-183)aaG>aaA p.K61K NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 61 Trypsin inhibitory domain.|WAP 1. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) GACAACATCTCTTCTTCCCTG 0.517000 5 74 0 0 0.184627 0 0 ZC3H4 23211 broad.mit.edu 37 19 47588318 47588318 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:47588318T>C ENST00000253048.5 - 8 1139 c.1102A>G c.(1102-1104)Atg>Gtg p.M368V ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 368 Gly-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CTCACGCCCATGTCCTCGTCA 0.532000 56 331 0 0 0.870114 0 0 ORAOV1 220064 broad.mit.edu 37 11 69482751 69482751 + Missense_Mutation SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:69482751A>G ENST00000279147.4 - 4 364 c.257T>C c.(256-258)aTt>aCt p.I86T ORAOV1_ENST00000536870.1_Missense_Mutation_p.I27T|ORAOV1_ENST00000535657.1_Missense_Mutation_p.I86T|ORAOV1_ENST00000539414.1_Missense_Mutation_p.I86T NM_153451.2 NP_703152.1 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 86 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GATCATTCCAATCAATGATTC 0.403000 9 699 0 0 0.307466 0 0 MROH2B 133558 broad.mit.edu 37 5 41009477 41009477 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:41009477C>T ENST00000399564.4 - 32 3775 c.3325G>A c.(3325-3327)Gaa>Aaa p.E1109K MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCTGGCTTTTCAGCCAGCGCC 0.498000 11 114 0 0 0.479597 0 0 SCN9A 6335 broad.mit.edu 37 2 167055509 167055509 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:167055509G>C ENST00000375387.4 - 27 5983 c.5643C>G c.(5641-5643)atC>atG p.I1881M SCN9A_ENST00000409672.1_Missense_Mutation_p.I1869M|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1880M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1881M Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1880 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GTGTGGTTGTGATGGGTTCAT 0.428000 29 177 0 0 0.717897 0 0 SPCS3 60559 broad.mit.edu 37 4 177249416 177249416 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:177249416G>T ENST00000503362.1 + 5 591 c.478G>T c.(478-480)Gtg>Ttg p.V160L SPCS3_ENST00000507001.1_3'UTR NM_021928.3 NP_068747.1 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 homolog (S. cerevisiae) 160 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(2) 2 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) TCTACCTCTTGTGACAGGATC 0.348000 13 90 1.5842e-08 1.86166e-08 0.435327 1 0 DAGLB 221955 broad.mit.edu 37 7 6449640 6449640 + Missense_Mutation SNP T T C rs138947170 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:6449640T>C ENST00000297056.6 - 15 2016 c.1847A>G c.(1846-1848)tAt>tGt p.Y616C DAGLB_ENST00000428902.2_3'UTR|DAGLB_ENST00000436575.1_Missense_Mutation_p.Y575C|DAGLB_ENST00000425398.2_Missense_Mutation_p.Y487C NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 616 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CTTGGCGCTATAGTGAGCAGC 0.597000 7 100 0 0 0.248553 0 0 C6orf118 168090 broad.mit.edu 37 6 165715310 165715310 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:165715310G>A ENST00000543069.1 - 2 770 c.189C>T c.(187-189)ggC>ggT p.G63G C6orf118_ENST00000230301.8_Silent_p.G167G Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 167 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) ATCCAGGAGGGCCCCGTCCAG 0.627000 8 156 0 0 0.278610 0 0 ACOX1 51 broad.mit.edu 37 17 73974674 73974674 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:73974674C>A ENST00000537812.1 - 2 744 c.96G>T c.(94-96)atG>atT p.M32I ACOX1_ENST00000301608.4_Missense_Mutation_p.M70I|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000293217.5_Missense_Mutation_p.M70I NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 70 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TCTTCTTCACCATGATGGCAC 0.463000 4 165 0.217242 0.220421 0.217242 1 0 PDZD7 79955 broad.mit.edu 37 10 102781636 102781636 + Silent SNP G G A rs148746572 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:102781636G>A ENST00000370215.3 - 6 1011 c.786C>T c.(784-786)aaC>aaT p.N262N NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 262 PDZ 2. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) ACCTGACACCGTTGGCTGCCA 0.622000 24 160 0 0 0.639603 0 0 CDS1 1040 broad.mit.edu 37 4 85538789 85538789 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:85538789C>T ENST00000295887.5 + 4 838 c.415C>T c.(415-417)Cta>Tta p.L139L NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 139 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) TTCTTATGATCTACCATGGTT 0.338000 7 113 0 0 0.248553 0 0 RPS19 6223 broad.mit.edu 37 19 42373230 42373230 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:42373230G>A ENST00000598742.1 + 4 674 c.302G>A c.(301-303)cGc>cAc p.R101H RPS19_ENST00000593863.1_Missense_Mutation_p.R101H|RPS19_ENST00000221975.2_Missense_Mutation_p.R27H NM_001022.3 NP_001013.1 P39019 RS19_HUMAN ribosomal protein S19 101 R -> H (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit). endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 AGTGTGGCCCGCCGGGTCCTC 0.617000 Diamond-Blackfan Anemia 6 59 0 0 0.457914 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47351188 47351188 + RNA SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:47351188G>T ENST00000505841.1 - 0 434 NR_002788.2 TGCTGATGTTGAAGCCAGGTT 0.448000 4 66 0.00909568 0.00975207 0.150653 1 0 FAM135B 51059 broad.mit.edu 37 8 139380208 139380208 + Missense_Mutation SNP T T G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:139380208T>G ENST00000395297.1 - 2 189 c.19A>C c.(19-21)Acg>Ccg p.T7P NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 7 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AACTCAACCGTTCCTTGTATT 0.378000 HNSCC(54;0.14) 18 201 0 0 0.557998 0 0 CAMK1G 57172 broad.mit.edu 37 1 209786185 209786185 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:209786185C>T ENST00000009105.1 + 12 1641 c.1396C>T c.(1396-1398)Cgg>Tgg p.R466W CAMK1G_ENST00000361322.2_Missense_Mutation_p.R466W Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 466 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CTCCCACTGCCGGGCAGGGCA 0.502000 8 121 0 0 0.335167 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49791025 49791025 + Nonsense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:49791025G>T ENST00000249601.4 - 2 503 c.207C>A c.(205-207)taC>taA p.Y69* ARHGAP22_ENST00000417912.2_Nonsense_Mutation_p.Y69*|ARHGAP22_ENST00000435790.2_Nonsense_Mutation_p.Y75*|ARHGAP22_ENST00000491108.1_5'UTR NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 69 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTTTGTCCTTGTAGTAGAAAA 0.587000 5 206 0.0293803 0.0307091 0.248553 1 0 MKKS 8195 broad.mit.edu 37 20 10393770 10393770 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:10393770G>C ENST00000347364.2 - 3 1155 c.393C>G c.(391-393)ctC>ctG p.L131L NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome 131 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 TCTCAGACTTGAGATAACTGA 0.398000 5 87 0 0 0.184627 0 0 ZNF473 25888 broad.mit.edu 37 19 50549541 50549541 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:50549541C>G ENST00000595661.1 + 6 2336 c.1841C>G c.(1840-1842)tCt>tGt p.S614C CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.S614C|ZNF473_ENST00000270617.3_Missense_Mutation_p.S614C|ZNF473_ENST00000445728.3_Missense_Mutation_p.S602C Q8WTR7 ZN473_HUMAN zinc finger protein 473 614 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AGAATCCACTCTAGAGTGAGG 0.488000 7 74 0 0 0.278610 0 0 RASIP1 54922 broad.mit.edu 37 19 49224087 49224087 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:49224087G>A ENST00000222145.4 - 12 3064 c.2860C>T c.(2860-2862)Cgc>Tgc p.R954C NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 954 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GGCCCATGGCGATAATTGGCT 0.612000 12 246 0 0 0.479597 0 0 RFX1 5989 broad.mit.edu 37 19 14079491 14079491 + Splice_Site SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:14079491G>T ENST00000254325.4 - 12 1852 c.1616_splice c.e12-1 p.L540_splice NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 540 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) ATGGGCTTGAGCCTGGAGTAG 0.692000 6 52 2.7689e-08 3.21749e-08 0.248553 1 0 SASH1 23328 broad.mit.edu 37 6 148865488 148865488 + Missense_Mutation SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:148865488A>G ENST00000367467.3 + 18 3357 c.2882A>G c.(2881-2883)cAc>cGc p.H961R NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 961 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GAAGGAACACACCATCCCCTG 0.522000 8 133 0 0 0.278610 0 0 NME6 10201 broad.mit.edu 37 3 48336722 48336722 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:48336722C>T ENST00000450160.1 - 4 266 c.197G>A c.(196-198)gGc>gAc p.G66D NME6_ENST00000426723.1_Intron|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000451657.1_Missense_Mutation_p.G66D|NME6_ENST00000426689.2_Silent_p.G79G|NME6_ENST00000447314.1_Silent_p.G34G|NME6_ENST00000442597.1_Silent_p.G79G|NME6_ENST00000415053.1_Silent_p.G79G|NME6_ENST00000452211.1_Silent_p.G79G|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000415644.1_Intron|NME6_ENST00000435684.1_Missense_Mutation_p.G66D|NME6_ENST00000421967.1_Silent_p.G87G O75414 NDK6_HUMAN NME/NM23 nucleoside diphosphate kinase 6 0 anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity breast(1)|large_intestine(5) 6 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CTCGGATTGGCCCGCTGTGAA 0.552000 3 37 0 0 0.115264 0 0 RNF139 11236 broad.mit.edu 37 8 125498931 125498931 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:125498931G>A ENST00000303545.3 + 2 1413 c.1041G>A c.(1039-1041)gaG>gaA p.E347E NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 347 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) GACCAGAAGAGAGACTTATTC 0.413000 50 350 0 0 0.870114 0 0 TCAIM 285343 broad.mit.edu 37 3 44437946 44437946 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:44437946C>T ENST00000342649.4 + 7 1177 c.750C>T c.(748-750)agC>agT p.S250S TCAIM_ENST00000417237.1_Silent_p.S250S NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial ATAGTTTAAGCCGCTTAGCAC 0.438000 3 40 0 0 0.115264 0 0 ERV3-1 2086 broad.mit.edu 37 7 64453119 64453119 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:64453119C>A ENST00000394323.2 - 2 786 c.286G>T c.(286-288)Gtc>Ttc p.V96F NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 96 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 tttgacccgacatgaatttca 0.463000 6 60 8.12818e-05 9.13872e-05 0.248553 1 0 MYH15 22989 broad.mit.edu 37 3 108147437 108147437 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:108147437G>A ENST00000273353.3 - 28 3720 c.3664C>T c.(3664-3666)Cta>Tta p.L1222L NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1222 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ACCTGCTGTAGATTTTCTACC 0.488000 16 213 0 0 0.479597 0 0 CYP26C1 340665 broad.mit.edu 37 10 94824176 94824176 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:94824176G>A ENST00000285949.5 + 4 744 c.744G>A c.(742-744)gaG>gaA p.E248E NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 248 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GGCACCTGGAGGGGGCCATTT 0.612000 3 66 0 0 0.115264 0 0 IGSF10 285313 broad.mit.edu 37 3 151164902 151164902 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:151164902G>T ENST00000282466.3 - 4 2866 c.2867C>A c.(2866-2868)aCa>aAa p.T956K NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 956 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) TCTTACAGATGTCTGATGACT 0.398000 112 260 4.80225e-73 5.98125e-73 0.870114 1 0 WDR53 348793 broad.mit.edu 37 3 196281368 196281368 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:196281368T>C ENST00000332629.5 - 4 1358 c.791A>G c.(790-792)aAg>aGg p.K264R WDR53_ENST00000429115.1_Missense_Mutation_p.K103R|WDR53_ENST00000433160.1_Missense_Mutation_p.K105R NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 264 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CAACGTGATCTTCCCATCATT 0.468000 19 220 0 0 0.557998 0 0 ZNF574 64763 broad.mit.edu 37 19 42583864 42583864 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:42583864G>T ENST00000600245.1 + 2 1761 c.1106G>T c.(1105-1107)tGt>tTt p.C369F ZNF574_ENST00000359044.4_Missense_Mutation_p.C369F|ZNF574_ENST00000222339.7_Missense_Mutation_p.C459F|CTB-59C6.3_ENST00000594531.1_RNA Q6ZN55 ZN574_HUMAN zinc finger protein 574 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C369Y(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) TGTGTAGACTGTGGCCTGGCC 0.592000 8 96 0.000274275 0.000298687 0.307466 1 0 ZNF771 51333 broad.mit.edu 37 16 30419501 30419501 + Missense_Mutation SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:30419501A>G ENST00000319296.5 + 2 504 c.127A>G c.(127-129)Atg>Gtg p.M43V ZNF771_ENST00000566625.1_Missense_Mutation_p.M43V|ZNF771_ENST00000434417.1_Missense_Mutation_p.M43V|ZNF771_ENST00000564550.1_Missense_Mutation_p.M43V Q7L3S4 ZN771_HUMAN zinc finger protein 771 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Colorectal(24;0.193) CAAGATCCCCATGGACAACAA 0.567000 8 79 0 0 0.361761 0 0 MKKS 8195 broad.mit.edu 37 20 10393971 10393971 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:10393971G>C ENST00000347364.2 - 3 954 c.192C>G c.(190-192)ctC>ctG p.L64L NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome 64 brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 AAAGGTGACTGAGCAGAGCTG 0.468000 10 112 0 0 0.335167 0 0 SLC25A5 292 broad.mit.edu 37 X 118604391 118604391 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:118604391G>A ENST00000317881.8 + 3 770 c.654G>A c.(652-654)caG>caA p.Q218Q SLC25A5_ENST00000460013.1_3'UTR NM_001152.4 NP_001143.2 P05141 ADT2_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 218 chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex adenine transmembrane transporter activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2) 12 Clodronate(DB00720) TGATCGCACAGACTGTCACTG 0.488000 15 72 0 0 0.479597 0 0 ADH5 128 broad.mit.edu 37 4 100003182 100003182 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:100003182T>C ENST00000296412.8 - 3 250 c.200A>G c.(199-201)cAt>cGt p.H67R ADH5_ENST00000512991.1_5'UTR NM_000671.3 NP_000662.3 P11766 ADHX_HUMAN alcohol dehydrogenase 5 (class III), chi polypeptide 67 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) AGCACCTTCATGTCCCAAGAT 0.453000 15 74 0 0 0.479597 0 0 AVEN 57099 broad.mit.edu 37 15 34163164 34163164 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:34163164C>T ENST00000306730.3 - 4 713 c.584G>A c.(583-585)cGa>cAa p.R195Q AVEN_ENST00000558136.1_5'UTR NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 195 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) AACGTTGAGTCGGAGGCAGAG 0.443000 5 46 0 0 0.217242 0 0 AHCTF1 25909 broad.mit.edu 37 1 247059207 247059207 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:247059207T>C ENST00000366508.1 - 13 1885 c.1749A>G c.(1747-1749)atA>atG p.I583M AHCTF1_ENST00000326225.3_Missense_Mutation_p.I557M|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.I548M Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 548 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTGCTGACAATATAGCTTCTA 0.368000 17 200 0 0 0.557998 0 0 ATP4B 496 broad.mit.edu 37 13 114307336 114307336 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr13:114307336T>C ENST00000335288.4 - 4 448 c.407A>G c.(406-408)tAc>tGc p.Y136C NM_000705.3 NP_000696.1 P51164 ATP4B_HUMAN ATPase, H+/K+ exchanging, beta polypeptide 136 ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) CTGGAAGAAGTACTGCTCGGA 0.617000 5 96 0 0 0.184627 0 0 CLDN2 9075 broad.mit.edu 37 X 106171760 106171760 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:106171760G>C ENST00000541806.1 + 2 821 c.302G>C c.(301-303)gGc>gCc p.G101A CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A|CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 101 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TCTGTGGTGGGCATGAGATGC 0.572000 16 96 0 0 0.500413 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67564228 67564228 + RNA SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:67564228C>T ENST00000528089.1 - 0 912 GAGGAGCCCGCTGGTGCTCCC 0.627000 4 66 0 0 0.217242 0 0 VIL1 7429 broad.mit.edu 37 2 219314035 219314035 + Silent SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:219314035C>G ENST00000248444.5 + 20 2548 c.2460C>G c.(2458-2460)ctC>ctG p.L820L VIL1_ENST00000392114.2_Silent_p.L509L NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 820 HP.|Headpiece.|LPA/PIP2-binding site 3. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AACAAAACCTCAAGAAAGAAA 0.448000 34 245 0 0 0.750413 0 0 DNAJB6 10049 broad.mit.edu 37 7 157160131 157160131 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:157160131C>T ENST00000262177.4 + 5 505 c.300C>T c.(298-300)ttC>ttT p.F100F DNAJB6_ENST00000443280.1_Silent_p.F100F|DNAJB6_ENST00000429029.2_Silent_p.F100F|DNAJB6_ENST00000452797.2_Silent_p.F51F NM_058246.3 NP_490647.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 100 Gly/Phe-rich.|Interaction with HSP70. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) ATGATGTCTTCAGGGAATTTT 0.408000 18 242 0 0 0.575678 0 0 AFF2 2334 broad.mit.edu 37 X 147743550 147743550 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:147743550C>A ENST00000370460.2 + 3 781 c.302C>A c.(301-303)tCt>tAt p.S101Y AFF2_ENST00000370458.1_Missense_Mutation_p.S97Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S97Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S97Y NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 101 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) CCAAAGAATTCTGTGCCCCAG 0.403000 29 170 7.38237e-10 8.8249e-10 0.706142 1 0 HNF4A 3172 broad.mit.edu 37 20 43030122 43030122 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:43030122G>A ENST00000316099.3 + 1 199 c.110G>A c.(109-111)gGc>gAc p.G37D HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Missense_Mutation_p.G37D|HNF4A_ENST00000443598.2_Missense_Mutation_p.G37D NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 37 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TTGACGATGGGCAATGGTAGG 0.587000 10 96 0 0 0.335167 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58849700 58849700 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:58849700G>C ENST00000329665.4 + 3 631 c.484G>C c.(484-486)Gag>Cag p.E162Q NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 162 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) AAATGTCACTGAGACCCTCAT 0.567000 13 141 0 0 0.411799 0 0 WDFY1 57590 broad.mit.edu 37 2 224809872 224809872 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:224809872C>T ENST00000233055.4 - 1 232 c.130G>A c.(130-132)Gag>Aag p.E44K NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 44 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) TACCTGTCCTCGCTGGCCGTG 0.751000 5 26 0 0 0.248553 0 0 P2RY10 27334 broad.mit.edu 37 X 78217001 78217001 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chrX:78217001C>T ENST00000171757.2 + 4 1264 c.984C>T c.(982-984)ctC>ctT p.L328L P2RY10_ENST00000544091.1_Silent_p.L328L NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 328 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 GCTCCCGCCTCATGAGCAAGG 0.438000 18 119 0 0 0.639603 0 0 KIF20B 9585 broad.mit.edu 37 10 91476203 91476203 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:91476203G>C ENST00000416354.1 + 9 1023 c.951G>C c.(949-951)tgG>tgC p.W317C KIF20B_ENST00000260753.4_Missense_Mutation_p.W317C|KIF20B_ENST00000394289.2_Missense_Mutation_p.W317C|KIF20B_ENST00000371728.3_Missense_Mutation_p.W317C Q96Q89 KI20B_HUMAN kinesin family member 20B 317 Kinesin-motor. 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 ATCTACAATGGATTCAAGTAT 0.303000 5 46 0 0 0.184627 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209138378 209138378 + Silent SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:209138378G>T ENST00000264380.4 + 3 401 c.243G>T c.(241-243)tcG>tcT p.S81S PIKFYVE_ENST00000392202.3_Silent_p.S81S|PIKFYVE_ENST00000308862.6_Silent_p.S81S|PIKFYVE_ENST00000407449.1_Silent_p.S81S NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 81 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 AGCTCCCTTCGAGGACACAGT 0.493000 10 122 0.000442599 0.000479483 0.335167 1 0 STAB1 23166 broad.mit.edu 37 3 52537039 52537039 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:52537039G>T ENST00000321725.6 + 7 684 c.608G>T c.(607-609)cGc>cTc p.R203L NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 203 EGF-like 3. 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) CAGGAGCTGCGCTGTCCCCAG 0.662000 3 17 0.115264 0.118688 0.115264 1 0 FASTKD1 79675 broad.mit.edu 37 2 170403114 170403114 + Missense_Mutation SNP T T A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:170403114T>A ENST00000453153.2 - 8 1661 c.1315A>T c.(1315-1317)Att>Ttt p.I439F FASTKD1_ENST00000453929.2_Missense_Mutation_p.I439F NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 439 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 ACGGCTTCAATTCGGGATATC 0.408000 13 105 0 0 0.411799 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37949128 37949128 + Silent SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:37949128G>C ENST00000373087.6 + 6 1832 c.1716G>C c.(1714-1716)gtG>gtC p.V572V NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 572 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGAGGCTGTGATGGGGCGCT 0.657000 8 46 0 0 0.278610 0 0 HTR1A 3350 broad.mit.edu 37 5 63257049 63257049 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:63257049G>A ENST00000323865.3 - 1 731 c.498C>T c.(496-498)ctC>ctT p.L166L RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 166 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGATAGAGATGAGGAAGCCAA 0.607000 8 99 0 0 0.361761 0 0 ADCY3 109 broad.mit.edu 37 2 25062774 25062774 + Silent SNP T T A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:25062774T>A ENST00000260600.5 - 6 2174 c.1323A>T c.(1321-1323)gtA>gtT p.V441V ADCY3_ENST00000405392.1_Silent_p.V52V NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 441 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TCTTGTTGGCTACAGTGACAT 0.672000 26 152 0 0 0.706142 0 0 AFF3 3899 broad.mit.edu 37 2 100623856 100623856 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:100623856C>G ENST00000317233.4 - 5 476 c.241G>C c.(241-243)Gac>Cac p.D81H AFF3_ENST00000409236.1_Missense_Mutation_p.D81H|AFF3_ENST00000409579.1_Missense_Mutation_p.D106H|AFF3_ENST00000356421.2_Missense_Mutation_p.D106H NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 81 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GTTAAAAAGTCTTTCATTTCA 0.418000 32 161 0 0 0.760397 0 0 FER1L6 654463 broad.mit.edu 37 8 125076788 125076788 + Nonsense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:125076788G>T ENST00000522917.1 + 26 3735 c.3529G>T c.(3529-3531)Gag>Tag p.E1177* FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.E1177* NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1177 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGTAGCCCAGGAGCCACCAAA 0.527000 7 120 0.000274275 0.000298687 0.307466 1 0 MPND 84954 broad.mit.edu 37 19 4345805 4345805 + Missense_Mutation SNP A A T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:4345805A>T ENST00000599840.1 + 3 393 c.358A>T c.(358-360)Acc>Tcc p.T120S MPND_ENST00000262966.8_Missense_Mutation_p.T120S|MPND_ENST00000359935.4_Missense_Mutation_p.T120S Q8N594 MPND_HUMAN MPN domain containing 120 peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GACCGGGCAGACCTTCAACTC 0.622000 9 86 0 0 0.307466 0 0 PSMD2 5708 broad.mit.edu 37 3 184023708 184023708 + Silent SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:184023708C>G ENST00000310118.4 + 13 2250 c.1692C>G c.(1690-1692)ctC>ctG p.L564L PSMD2_ENST00000435761.1_Silent_p.L405L|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.L434L NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 564 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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GACTGGGTCTCAACCACCTGG 0.493000 OREG0015947 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 132 0 0 0.217242 0 0 KIF14 9928 broad.mit.edu 37 1 200529861 200529861 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:200529861C>A ENST00000367350.4 - 26 4657 c.4219G>T c.(4219-4221)Gcc>Tcc p.A1407S NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1407 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TGGACACTGGCAGCTTTATTG 0.383000 23 188 3.83957e-06 4.3641e-06 0.639603 1 0 PES1 23481 broad.mit.edu 37 22 30985250 30985250 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr22:30985250C>T ENST00000354694.6 - 2 138 c.32G>A c.(31-33)cGa>cAa p.R11Q PES1_ENST00000335214.6_Missense_Mutation_p.R11Q|PES1_ENST00000402284.3_Missense_Mutation_p.R11Q|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402281.1_5'UTR NM_001243225.1|NM_014303.3 NP_001230154.1|NP_055118.1 O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 11 Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 GGCCGAGCCTCGTTCATACTG 0.498000 4 49 0 0 0.150653 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814387 56814387 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56814387C>T ENST00000229201.4 - 26 3345 c.3191G>A c.(3190-3192)cGc>cAc p.R1064H TIMELESS_ENST00000553532.1_Missense_Mutation_p.R1065H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R562H NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1065 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 CCCTAGCTTGCGCAACAGCTG 0.517000 11 148 0 0 0.387290 0 0 FLT4 2324 broad.mit.edu 37 5 180048861 180048861 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr5:180048861C>A ENST00000261937.6 - 13 1779 c.1701G>T c.(1699-1701)gaG>gaT p.E567D FLT4_ENST00000393347.3_Missense_Mutation_p.E567D|FLT4_ENST00000502649.1_Missense_Mutation_p.E567D|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 567 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCTCTAGTAGCTCCTCGGATG 0.622000 11 97 0.00010058 0.000112476 0.411799 1 0 BMPER 168667 broad.mit.edu 37 7 34097738 34097738 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:34097738G>A ENST00000297161.2 + 11 1369 c.995G>A c.(994-996)cGc>cAc p.R332H BMPER_ENST00000426693.1_Missense_Mutation_p.R332H NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 332 VWFC 5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space p.R332H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ACGGAGTGTCGCAATAAGCAG 0.493000 8 86 0 0 0.278610 0 0 DGKG 1608 broad.mit.edu 37 3 186006525 186006525 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:186006525G>A ENST00000265022.3 - 6 1057 c.518C>T c.(517-519)aCg>aTg p.T173M DGKG_ENST00000544847.1_Missense_Mutation_p.T173M|DGKG_ENST00000344484.4_Missense_Mutation_p.T173M|DGKG_ENST00000382164.4_Missense_Mutation_p.T173M NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 173 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGGCCTCCCCGTCTCCAGCAG 0.557000 28 365 0 0 0.706142 0 0 MICALCL 84953 broad.mit.edu 37 11 12316364 12316364 + Silent SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:12316364T>C ENST00000256186.2 + 3 1677 c.1386T>C c.(1384-1386)ccT>ccC p.P462P NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 462 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.P462P(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) ctcctcctcctcctcctcctc 0.582000 3 12 0 0 0.115264 0 0 DST 667 broad.mit.edu 37 6 56505116 56505116 + Nonsense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr6:56505116G>C ENST00000370754.5 - 17 2215 c.2216C>G c.(2215-2217)tCa>tGa p.S739* DST_ENST00000244364.6_Nonsense_Mutation_p.S235*|DST_ENST00000361203.3_Nonsense_Mutation_p.S561*|DST_ENST00000370788.2_Nonsense_Mutation_p.S561*|DST_ENST00000312431.6_Nonsense_Mutation_p.S561*|DST_ENST00000370765.6_Nonsense_Mutation_p.S235*|DST_ENST00000446842.2_Nonsense_Mutation_p.S235*|DST_ENST00000421834.2_Nonsense_Mutation_p.S561*|DST_ENST00000518935.1_Nonsense_Mutation_p.S235*|DST_ENST00000370769.4_Nonsense_Mutation_p.S561* Q03001 DYST_HUMAN dystonin 561 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AACTAATCCTGATGGGAAACC 0.453000 9 140 0 0 0.387290 0 0 GRIP2 80852 broad.mit.edu 37 3 14562009 14562009 + RNA SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:14562009C>T ENST00000273083.3 - 0 813 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TTGACTATTTCCACCATCAAG 0.552000 4 38 0 0 0.150653 0 0 MTMR4 9110 broad.mit.edu 37 17 56582201 56582201 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:56582201C>T ENST00000323456.5 - 12 1362 c.1238G>A c.(1237-1239)cGc>cAc p.R413H MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 413 Myotubularin phosphatase.|Substrate binding (By similarity). cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCGGTGTGCGGTCCCAGCC 0.532000 4 215 0 0 0.184627 0 0 CCND1 595 broad.mit.edu 37 11 69457891 69457891 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:69457891C>T ENST00000227507.2 + 2 518 c.291C>T c.(289-291)agC>agT p.S97S CCND1_ENST00000536559.1_Intron NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 97 Cyclin N-terminal. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) TGAAAAAGAGCCGCCTGCAGC 0.602000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 4 101 0 0 0.150653 0 0 COL13A1 1305 broad.mit.edu 37 10 71707080 71707080 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr10:71707080C>T ENST00000356340.3 + 36 2543 c.2007C>T c.(2005-2007)ccC>ccT p.P669P COL13A1_ENST00000398974.3_Silent_p.P657P|COL13A1_ENST00000398971.3_Silent_p.P654P|COL13A1_ENST00000398978.3_Silent_p.P669P|COL13A1_ENST00000398973.3_Silent_p.P643P|COL13A1_ENST00000354547.3_Silent_p.P647P|COL13A1_ENST00000398966.3_Silent_p.P647P|COL13A1_ENST00000357811.3_Silent_p.P635P|COL13A1_ENST00000398968.3_Silent_p.P650P|COL13A1_ENST00000522165.1_Silent_p.P638P|COL13A1_ENST00000398969.3_Silent_p.P597P|COL13A1_ENST00000398972.3_Silent_p.P655P|COL13A1_ENST00000517713.1_Silent_p.P620P|COL13A1_ENST00000398964.3_Silent_p.P640P|COL13A1_ENST00000520267.1_Silent_p.P597P|COL13A1_ENST00000520133.1_Silent_p.P591P Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 669 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) ATGGACCACCCGGGGACAAGG 0.517000 4 80 0 0 0.150653 0 0 PTCH1 5727 broad.mit.edu 37 9 98209663 98209663 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:98209663G>A ENST00000430669.2 - 23 4262 c.3677C>T c.(3676-3678)tCc>tTc p.S1226F PTCH1_ENST00000421141.1_Missense_Mutation_p.S1141F|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1141F|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1226F|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1291F|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1141F|PTCH1_ENST00000331920.6_Missense_Mutation_p.S1292F Q13635 PTC1_HUMAN patched 1 1292 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GGGAGGCAGGGACCCTGAGTC 0.652000 15 184 0 0 0.500413 0 0 PTGFRN 5738 broad.mit.edu 37 1 117487601 117487601 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:117487601C>T ENST00000393203.2 + 3 866 c.719C>T c.(718-720)gCc>gTc p.A240V NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 240 Ig-like C2-type 2. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GCTCTGTCTGCCGACCAGGGC 0.657000 3 55 0 0 0.150653 0 0 RHO 6010 broad.mit.edu 37 3 129251462 129251462 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:129251462C>G ENST00000296271.3 + 4 877 c.783C>G c.(781-783)ttC>ttG p.F261L NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 261 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TCATCGCTTTCCTGATCTGCT 0.592000 7 109 0 0 0.278610 0 0 DARC 2532 broad.mit.edu 37 1 159176142 159176142 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:159176142G>A ENST00000537147.1 + 3 1756 c.913G>A c.(913-915)Gcc>Acc p.A305T DARC_ENST00000368122.2_Missense_Mutation_p.A305T|DARC_ENST00000368121.2_Missense_Mutation_p.A307T Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 305 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CCTGCTCCTCGCCCTATTCTG 0.592000 97 539 0 0 0.870114 0 0 CD163 9332 broad.mit.edu 37 12 7637727 7637727 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:7637727G>C ENST00000359156.4 - 11 2946 c.2744C>G c.(2743-2745)gCc>gGc p.A915G CD163_ENST00000432237.2_Missense_Mutation_p.A915G|CD163_ENST00000396620.3_Missense_Mutation_p.A948G|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.A903G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 915 SRCR 8. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CGAGGGGCTGGCCAGTCTCTT 0.517000 18 214 0 0 0.539581 0 0 CTDNEP1 23399 broad.mit.edu 37 17 7150389 7150389 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:7150389G>C ENST00000573600.1 - 4 703 c.282C>G c.(280-282)atC>atG p.I94M CTDNEP1_ENST00000574322.1_Missense_Mutation_p.I94M|RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000572043.1_De_novo_Start_InFrame|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.I94M O95476 CNEP1_HUMAN CTD nuclear envelope phosphatase 1 94 FCP1 homology. nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 15 ACACCTTGAGGATGAAGTCAG 0.562000 41 159 0 0 0.847076 0 0 IFT80 57560 broad.mit.edu 37 3 160099510 160099510 + Nonsense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:160099510G>A ENST00000326448.7 - 3 472 c.40C>T c.(40-42)Caa>Taa p.Q14* IFT80_ENST00000496589.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_Intron|IFT80_ENST00000477495.1_5'UTR NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 14 Q -> I (in Ref. 4; BAA92612). cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACTAATTCTTGATGTGTCACC 0.353000 27 252 0 0 0.667858 0 0 OR2W5 441932 broad.mit.edu 37 1 247655359 247655359 + RNA SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:247655359G>T ENST00000522351.1 + 0 990 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGGGAGAAAGGGGCTGGGGAG 0.488000 10 230 6.42651e-13 7.7716e-13 0.387290 1 0 PTENP1 11191 broad.mit.edu 37 9 33675711 33675711 + RNA SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:33675711C>G ENST00000532280.1 - 0 1786 NR_023917.1 CTAGATACTCCTTGTCATTAT 0.353000 44 133 0 0 0.834066 0 0 STAR 6770 broad.mit.edu 37 8 38006273 38006273 + Splice_Site SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:38006273C>A ENST00000276449.4 - 2 511 c.e2-1 RP11-90P5.2_ENST00000520598.1_RNA NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) TGCCTCAGCCCTGCAGAAGGG 0.592000 5 97 0.014758 0.0156615 0.184627 1 0 HERC1 8925 broad.mit.edu 37 15 64067311 64067311 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:64067311G>A ENST00000443617.2 - 2 599 c.512C>T c.(511-513)gCg>gTg p.A171V NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 171 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCTTAGAAGCGCAAATAATAA 0.448000 5 387 0 0 0.217242 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610609 47610609 + Missense_Mutation SNP G G A rs141856283 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:47610609G>A ENST00000371891.3 + 9 1220 c.1189G>A c.(1189-1191)Gtc>Atc p.V397I CYP4A22_ENST00000371890.3_Missense_Mutation_p.V299I|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.V397I|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 397 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGCACTCCCGTCACCTTCCC 0.582000 7 58 0 0 0.307466 0 0 GCN1L1 10985 broad.mit.edu 37 12 120597955 120597955 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:120597955C>T ENST00000300648.6 - 23 2553 c.2541G>A c.(2539-2541)cgG>cgA p.R847R NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 847 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTCCTGCAGCCGCCTCCGGA 0.612000 4 86 0 0 0.150653 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409510 59409510 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr8:59409510G>A ENST00000301645.3 - 3 698 c.561C>T c.(559-561)atC>atT p.I187I NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 187 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CTCTGCCAAAGATAGTTAAAT 0.453000 Neonatal Giant Cell Hepatitis 28 218 0 0 0.693898 0 0 AKAP13 11214 broad.mit.edu 37 15 86122930 86122930 + Missense_Mutation SNP A A T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:86122930A>T ENST00000394518.2 + 7 1726 c.1631A>T c.(1630-1632)gAt>gTt p.D544V RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D544V NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 544 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AGTTCCCTGGATGGTAACAAA 0.468000 15 126 0 0 0.500413 0 0 TMTC2 160335 broad.mit.edu 37 12 83251023 83251023 + Silent SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:83251023C>A ENST00000549919.1 + 3 2105 c.300C>A c.(298-300)tcC>tcA p.S100S TMTC2_ENST00000548305.1_Silent_p.S106S|TMTC2_ENST00000321196.3_Silent_p.S106S Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 106 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CAAGCTTCTCCAAGATCCTCC 0.522000 16 141 2.62699e-14 3.2142e-14 0.479597 1 0 CLCN3 1182 broad.mit.edu 37 4 170628124 170628124 + Missense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr4:170628124G>T ENST00000513761.1 + 11 2415 c.1856G>T c.(1855-1857)tGg>tTg p.W619L CLCN3_ENST00000504131.2_Missense_Mutation_p.W602L|CLCN3_ENST00000360642.3_Missense_Mutation_p.W592L|CLCN3_ENST00000347613.4_Missense_Mutation_p.W619L NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 619 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) ACCAGTAAATGGGTTGGAGAT 0.438000 6 130 1.12685e-05 1.27383e-05 0.307466 1 0 MPND 84954 broad.mit.edu 37 19 4357346 4357346 + Missense_Mutation SNP G G A rs61730129 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:4357346G>A ENST00000599840.1 + 9 1128 c.1093G>A c.(1093-1095)Gca>Aca p.A365T AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000262966.8_Missense_Mutation_p.A365T|MPND_ENST00000359935.4_Missense_Mutation_p.A315T Q8N594 MPND_HUMAN MPN domain containing 365 MPN. peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGACATCGACGCACAGATGGA 0.672000 9 41 0 0 0.387290 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602370 138602370 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:138602370C>T ENST00000440172.1 - 2 2050 c.2002G>A c.(2002-2004)Gag>Aag p.E668K KIAA1549_ENST00000422774.1_Missense_Mutation_p.E668K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E618K NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 668 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTAAATGTCTCAACCAAGGGA 0.502000 O BRAF pilocytic astrocytoma 3 24 0 0 0.115264 0 0 IGSF10 285313 broad.mit.edu 37 3 151164903 151164903 + Missense_Mutation SNP T T C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:151164903T>C ENST00000282466.3 - 4 2865 c.2866A>G c.(2866-2868)Aca>Gca p.T956A NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 956 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) CTTACAGATGTCTGATGACTA 0.398000 114 261 0 0 0.870114 0 0 ELMO3 79767 broad.mit.edu 37 16 67234439 67234439 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:67234439C>T ENST00000393997.2 + 6 715 c.658C>T c.(658-660)Ccc>Tcc p.P220S ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Missense_Mutation_p.P203S|ELMO3_ENST00000477898.1_Missense_Mutation_p.P54S NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 167 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TCTGAGCATCCCCTTTGTGAG 0.647000 14 109 0 0 0.457914 0 0 SPON1 10418 broad.mit.edu 37 11 14282159 14282159 + RNA SNP A A T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:14282159A>T ENST00000310358.7 + 0 2392 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TGCTGTCCCCATGGTCCGAGT 0.547000 10 85 0 0 0.335167 0 0 SETDB2 83852 broad.mit.edu 37 13 50054403 50054403 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr13:50054403C>T ENST00000354234.4 + 7 1824 c.918C>T c.(916-918)tcC>tcT p.S306S SETDB2_ENST00000258672.5_Silent_p.S306S|SETDB2_ENST00000317257.8_Silent_p.S318S NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 318 Pre-SET. cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) CCAAAACTTCCCCCTTGTCAA 0.408000 23 270 0 0 0.608945 0 0 ANKAR 150709 broad.mit.edu 37 2 190608094 190608094 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr2:190608094C>G ENST00000520309.1 + 21 3992 c.3904C>G c.(3904-3906)Cag>Gag p.Q1302E ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q1231E|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q1302E|ANKAR_ENST00000281412.6_3'UTR NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1302 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TAAACCTAATCAGTTCATTCG 0.368000 12 78 0 0 0.387290 0 0 ZNF606 80095 broad.mit.edu 37 19 58489924 58489924 + Silent SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:58489924G>A ENST00000341164.4 - 7 2744 c.2124C>T c.(2122-2124)taC>taT p.Y708Y ZNF606_ENST00000536132.1_Silent_p.Y618Y NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 708 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CATTACACCTGTATGGTTTCT 0.393000 23 147 0 0 0.639603 0 0 PSMC1 5700 broad.mit.edu 37 14 90734636 90734636 + Nonsense_Mutation SNP G G T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:90734636G>T ENST00000261303.8 + 8 863 c.760G>T c.(760-762)Gaa>Taa p.E254* PSMC1_ENST00000543772.2_Nonsense_Mutation_p.E181* NM_002802.2 NP_002793.2 P62191 PRS4_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 1 254 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 cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding endometrium(2)|kidney(2)|upper_aerodigestive_tract(2) 6 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) GGTTGGCTCTGAACTTATTCA 0.403000 5 92 0.0215528 0.0227562 0.217242 1 0 OR2M7 391196 broad.mit.edu 37 1 248486986 248486986 + Missense_Mutation SNP C C A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:248486986C>A ENST00000317965.2 - 1 913 c.885G>T c.(883-885)aaG>aaT p.K295N NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGTCACTTCCTTGTTGCGGA 0.423000 13 108 1.05317e-09 1.25177e-09 0.457914 1 0 ZFP28 140612 broad.mit.edu 37 19 57065936 57065936 + Silent SNP C C T rs61734808 byFrequency TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:57065936C>T ENST00000301318.3 + 8 1853 c.1782C>T c.(1780-1782)tgC>tgT p.C594C AC007228.11_ENST00000596587.1_RNA NM_020828.1 NP_065879.1 Q8NHY6 ZFP28_HUMAN ZFP28 zinc finger protein 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GTAAAGAGTGCGGAAAAGCTT 0.413000 4 238 0 0 0.184627 0 0 THRB 7068 broad.mit.edu 37 3 24174936 24174936 + Missense_Mutation SNP T T G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr3:24174936T>G ENST00000396671.2 - 9 1104 c.756A>C c.(754-756)caA>caC p.Q252H THRB_ENST00000356447.4_Missense_Mutation_p.Q252H|THRB_ENST00000416420.1_Missense_Mutation_p.Q252H|THRB_ENST00000280696.5_Missense_Mutation_p.Q267H NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 252 Interaction with NR2F6.|Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) CTATTGGTGCTTGTCCAATGT 0.393000 5 82 0 0 0.184627 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814831 56814831 + Missense_Mutation SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:56814831C>T ENST00000229201.4 - 24 3107 c.2953G>A c.(2953-2955)Gaa>Aaa p.E985K TIMELESS_ENST00000553532.1_Missense_Mutation_p.E986K|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E483K NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 986 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 CCCCCTTCTTCTTCCTCTTCG 0.478000 13 236 0 0 0.457914 0 0 C16orf91 283951 broad.mit.edu 37 16 1478469 1478469 + Missense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr16:1478469G>A ENST00000310355.1 - 2 181 c.182C>T c.(181-183)gCg>gTg p.A61V Q4G0I0 CSMT1_HUMAN chromosome 16 open reading frame 91 0 integral to membrane breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 GTCCACCTGCGCCCGAAGCCT 0.672000 4 27 0 0 0.150653 0 0 MED26 9441 broad.mit.edu 37 19 16687957 16687957 + Silent SNP C C T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:16687957C>T ENST00000263390.3 - 3 946 c.684G>A c.(682-684)ccG>ccA p.P228P CTD-3222D19.2_ENST00000409035.1_Silent_p.P236P NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 228 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 AGCTGGTGTGCGGTCGCACGG 0.682000 8 113 0 0 0.278610 0 0 KNCN 148930 broad.mit.edu 37 1 47016763 47016763 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:47016763C>G ENST00000481882.2 - 1 436 c.125G>C c.(124-126)gGt>gCt p.G42A MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000396314.3_Missense_Mutation_p.G42A A6PVL3 KNCN_HUMAN kinocilin 42 integral to membrane central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1) 4 Acute lymphoblastic leukemia(166;0.155) AATAAAGACACCGCCCATGGC 0.632000 7 110 0 0 0.361761 0 0 FANCI 55215 broad.mit.edu 37 15 89836226 89836226 + Missense_Mutation SNP C C G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:89836226C>G ENST00000310775.7 + 22 2309 c.2223C>G c.(2221-2223)atC>atG p.I741M FANCI_ENST00000300027.8_Missense_Mutation_p.I741M NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 741 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) AAAATAATATCTGTGCTTTTC 0.313000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 15 139 0 0 0.479597 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803746 142803746 + RNA SNP A A G TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:142803746A>G ENST00000423385.1 - 0 1219 actatggattagagctgatta 0.393000 3 6 0 0 0.115264 0 0 PTPN9 5780 broad.mit.edu 37 15 75815511 75815511 + Missense_Mutation SNP G G C TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr15:75815511G>C ENST00000306726.2 - 4 885 c.373C>G c.(373-375)Cat>Gat p.H125D NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 125 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGTACCACATGTTGGACTGAC 0.428000 5 62 0 0 0.184627 0 0 SLC2A5 6518 broad.mit.edu 37 1 9129568 9129568 + Frame_Shift_Del DEL C C - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:9129568delC ENST00000377424.4 - 1 207 c.28delG c.(28-30)aafs p.E10fs SLC2A5_ENST00000377414.3_Frame_Shift_Del_p.E10fs|SLC2A5_ENST00000535586.1_5'UTR NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 10 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CTCACCCCTTCCTTCATGCTC 0.587 38 483 --- --- --- --- ATP1A4 480 broad.mit.edu 37 1 160134105 160134106 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:160134105_160134106insT ENST00000368081.4 + 7 1409_1410 c.938_939insT c.(937-939)attfs p.I313fs NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 313 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTGGTGTCACTTTTTTTGCGC 0.535 20 366 --- --- --- --- SOAT1 6646 broad.mit.edu 37 1 179310294 179310295 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:179310294_179310295insT ENST00000367619.3 + 7 772_773 c.629_630insT c.(628-630)tagfs p.*210fs SOAT1_ENST00000539888.1_Frame_Shift_Ins_p.*145fs|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Frame_Shift_Ins_p.*152fs NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 210 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GCCACTGGCTATAGCAAGAGTT 0.431 35 486 --- --- --- --- C1orf35 79169 broad.mit.edu 37 1 228288853 228288854 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr1:228288853_228288854insT ENST00000272139.4 - 8 1004_1005 c.770_771insA c.(769-771)cgafs p.R257fs C1orf35_ENST00000472617.1_5'UTR NM_024319.2 NP_077295.1 Q9BU76 MMTA2_HUMAN chromosome 1 open reading frame 35 257 large_intestine(1)|lung(1)|skin(1) 3 Prostate(94;0.0488) AGCCTCTGTCATGCCACCTGCG 0.634 12 116 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 3 6 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 5 10 --- --- --- --- FAM74A3 728495 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 5 9 --- --- --- --- SPATA31D5P 347127 broad.mit.edu 37 9 84528568 84528568 + RNA DEL A A - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr9:84528568delA ENST00000527857.1 + 0 217 NR_026851.1 AATGATATCCAAAAGGTAAGG 0.398 4 5 --- --- --- --- TTC17 55761 broad.mit.edu 37 11 43413095 43413096 + Frame_Shift_Ins INS - - A rs138517922 by1000genomes TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr11:43413095_43413096insA ENST00000039989.4 + 4 514_515 c.500_501insA c.(499-501)ctafs p.L167fs TTC17_ENST00000299240.6_Frame_Shift_Ins_p.L167fs|RP11-484D2.4_ENST00000394183.2_RNA NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 167 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CTAGAACTTCCATATAGTATAC 0.356 21 126 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794772 55794773 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:55794772_55794773insT ENST00000379665.2 + 1 559_560 c.460_461insT c.(460-462)tttfs p.F154fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTTTCTCATTATTTTTCCCCCC 0.436 27 422 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr12:64812755delT ENST00000332707.5 + 6 899 c.370delT c.(370-372)ttfs p.F126fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 126 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GTGGCCCAAGTTTTTTTTTGA 0.443 7 322 --- --- --- --- SLITRK6 84189 broad.mit.edu 37 13 86368190 86368191 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr13:86368190_86368191insT ENST00000400286.2 - 2 3051_3052 c.2453_2454insA c.(2452-2454)agafs p.R818fs NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 818 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) CAAAATACTCATTTTTTGTCTG 0.401 11 174 --- --- --- --- SOX21 11166 broad.mit.edu 37 13 95364121 95364135 + In_Frame_Del DEL GGCCTCGTCGATGAA GGCCTCGTCGATGAA - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr13:95364121_95364135delGGCCTCGTCGATGAA ENST00000376945.2 - 1 254_268 c.169_183delTTCATCGACGAGGCC c.(169-183)del p.FIDEA57del NM_007084.2 NP_009015.1 Q9Y651 SOX21_HUMAN SRY (sex determining region Y)-box 21 57 regulation of transcription from RNA polymerase II promoter|stem cell differentiation nucleus DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 all_neural(89;0.0646)|Medulloblastoma(90;0.163) GTAGACGCTTGGCCTCGTCGATGAACGGCCGCTTC 0.614 24 104 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21963465 21963466 + Frame_Shift_Ins INS - - A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr14:21963465_21963466insA ENST00000405508.1 + 9 1995_1996 c.1719_1720insA c.(1717-1722)gtggtcfs p.V574fs TOX4_ENST00000448790.2_Frame_Shift_Ins_p.V551fs|TOX4_ENST00000262709.3_Frame_Shift_Ins_p.V574fs O94842 TOX4_HUMAN TOX high mobility group box family member 4 574 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CTCGATGTGTGAGGTCTGGTTG 0.505 15 218 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579514 7579514 + Frame_Shift_Del DEL G G - rs144386518 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:7579514delG ENST00000420246.2 - 4 305 c.173delC c.(172-174)cafs p.P58fs TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 58 Interaction with HRMT1L2. P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATCTGGACCTGGGTCTTCAGT 0.602 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 121 266 --- --- --- --- CYB561 1534 broad.mit.edu 37 17 61511870 61511870 + Frame_Shift_Del DEL A A - TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr17:61511870delA ENST00000392976.1 - 6 948 c.649delT c.(649-651)acfs p.Y217fs CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000392975.2_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000542042.1_Frame_Shift_Del_p.Y284fs|CYB561_ENST00000582034.1_Frame_Shift_Del_p.Y188fs|CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000581573.1_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000360793.3_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582997.1_Frame_Shift_Del_p.Y224fs NM_001017916.1 NP_001017916.1 P49447 CY561_HUMAN cytochrome b561 217 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) GTCAAGATGTAGAGCACCGCC 0.657 7 30 --- --- --- --- PPP2R1A 5518 broad.mit.edu 37 19 52724304 52724305 + Frame_Shift_Ins INS - - T rs141690261 TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr19:52724304_52724305insT ENST00000322088.6 + 12 1494_1495 c.1436_1437insT c.(1435-1437)cgcfs p.R479fs PPP2R1A_ENST00000444322.2_Frame_Shift_Ins_p.R424fs|PPP2R1A_ENST00000462990.1_Frame_Shift_Ins_p.R300fs NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 479 PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GAGTGGGCCCATGCCACAATCA 0.559 Mis clear cell ovarian carcinoma 21 152 --- --- --- --- TFAP2C 7022 broad.mit.edu 37 20 55208539 55208540 + Frame_Shift_Ins INS - - T TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx e450fec8-66dd-4798-8197-4206b8ba7c4d 4b1d7980-d6aa-4c96-b019-228d9243d7be g.chr20:55208539_55208540insT ENST00000201031.2 + 4 960_961 c.717_718insT c.(715-720)aaacaafs p.KQ239fs TFAP2C_ENST00000544508.1_Frame_Shift_Ins_p.KQ70fs NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 239 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CTACGTCTAAATACAAAGTGAC 0.535 19 112 --- --- --- ---