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 SLC24A3 57419 broad.mit.edu 37 20 19566136 19566136 + Missense_Mutation SNP C C T TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr20:19566136C>T ENST00000328041.6 + 6 757 c.560C>T c.(559-561)gCg>gTg p.A187V NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 187 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTGGGCTCAGCGGTATTCAAC 0.527000 10 288 0 0 0.000978159 0 0 OR1S2 219958 broad.mit.edu 37 11 57971223 57971223 + Missense_Mutation SNP T T C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr11:57971223T>C ENST00000302592.6 - 1 430 c.431A>G c.(430-432)aAc>aGc p.N144S NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AGTTGTATAGTTCAGAGGGTG 0.463000 14 100 0 0 0.00244969 0 0 RGP1 9827 broad.mit.edu 37 9 35751280 35751280 + Missense_Mutation SNP T T G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr9:35751280T>G ENST00000378078.4 + 6 646 c.505T>G c.(505-507)Ttt>Gtt p.F169V RGP1_ENST00000456972.2_Missense_Mutation_p.F209V NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 169 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGATGTCCGGTTTCCCCAGGA 0.512000 32 338 0 0 0.000692331 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17365107 17365107 + Missense_Mutation SNP T T C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr10:17365107T>C ENST00000377602.4 - 7 759 c.685A>G c.(685-687)Aaa>Gaa p.K229E NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 229 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 AGATTTGTTTTACTGCCAACA 0.333000 25 50 0 0 0.00106085 0 0 PTPRG 5793 broad.mit.edu 37 3 62240850 62240850 + Missense_Mutation SNP T T G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr3:62240850T>G ENST00000474889.1 + 16 2896 c.2519T>G c.(2518-2520)cTc>cGc p.L840R PTPRG_ENST00000295874.10_Missense_Mutation_p.L811R NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 840 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATCGGTGAGCTCTATTCTAAT 0.368000 34 60 0 0 0.000953801 0 0 KCNK5 8645 broad.mit.edu 37 6 39158873 39158873 + Silent SNP G G A rs144931567 TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr6:39158873G>A ENST00000359534.3 - 5 1631 c.1293C>T c.(1291-1293)gaC>gaT p.D431D NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 431 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity p.D431D(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 AGGTCTCCTCGTCTGAGAGGC 0.632000 4 38 0 0 0.00024832 0 0 ENPP1 5167 broad.mit.edu 37 6 132195457 132195457 + Missense_Mutation SNP A A G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr6:132195457A>G ENST00000360971.2 + 16 1635 c.1615A>G c.(1615-1617)Aat>Gat p.N539D NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 539 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TGGCTCTGACAATGTATTTTC 0.279000 39 67 0 0 0.00222228 0 0 SPOP 8405 broad.mit.edu 37 17 47696637 47696637 + Missense_Mutation SNP A A G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr17:47696637A>G ENST00000393331.3 - 6 781 c.311T>C c.(310-312)tTc>tCc p.F104S SPOP_ENST00000504102.1_Missense_Mutation_p.F104S|SPOP_ENST00000503676.1_Missense_Mutation_p.F104S|SPOP_ENST00000347630.2_Missense_Mutation_p.F104S|SPOP_ENST00000393328.2_Missense_Mutation_p.F104S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 104 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CAGGATGGAGAATTTGAATTT 0.408000 Prostate(2;0.17) 44 73 0 0 0.00285205 0 0 PCDHB4 0 broad.mit.edu 37 5 140502262 140502262 + Nonsense_Mutation SNP C C T TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr5:140502262C>T ENST00000194152.1 + 1 682 c.682C>T c.(682-684)Cga>Tga p.R228* NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 228 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.R228*(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCATGGTTCGAATCCTGAT 0.542000 6 123 0 0 0.00116845 0 0 SLC22A16 85413 broad.mit.edu 37 6 110768172 110768172 + Missense_Mutation SNP C C A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr6:110768172C>A ENST00000368919.3 - 3 621 c.555G>T c.(553-555)ttG>ttT p.L185F SLC22A16_ENST00000330550.4_Missense_Mutation_p.L151F|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L185F|SLC22A16_ENST00000456137.2_3'UTR NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 185 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TTGTGGCCCACAAGACCACCC 0.443000 13 21 1.61879e-10 6.28091e-10 0.00136819 1 0 HS3ST6 64711 broad.mit.edu 37 16 1961822 1961822 + Silent SNP G G A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr16:1961822G>A ENST00000454677.2 - 2 914 c.849C>T c.(847-849)ttC>ttT p.F283F HS3ST6_ENST00000293937.3_Silent_p.F266F|HS3ST6_ENST00000443547.1_Silent_p.F235F C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 235 endometrium(2)|lung(2) 4 TCAGGCCCAGGAAGTCCTGCA 0.667000 13 143 0 0 0.00244969 0 0 CNOT2 4848 broad.mit.edu 37 12 70723332 70723332 + Missense_Mutation SNP C C T TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr12:70723332C>T ENST00000229195.3 + 5 947 c.368C>T c.(367-369)aCg>aTg p.T123M CNOT2_ENST00000418359.3_Missense_Mutation_p.T123M|CNOT2_ENST00000548230.1_3'UTR NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 123 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TCACTTCACACGCCTCCATCT 0.398000 24 50 0 0 0.000878237 0 0 FBN3 84467 broad.mit.edu 37 19 8140171 8140171 + Missense_Mutation SNP A A C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr19:8140171A>C ENST00000600128.1 - 60 7992 c.7578T>G c.(7576-7578)tgT>tgG p.C2526W FBN3_ENST00000601739.1_Missense_Mutation_p.C2526W|FBN3_ENST00000270509.2_Missense_Mutation_p.C2526W Q75N90 FBN3_HUMAN fibrillin 3 2526 EGF-like 41; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CTGTACCTTCACAGCCATGGC 0.602000 22 40 0 0 0.00229938 0 0 SLC51A 200931 broad.mit.edu 37 3 195959365 195959365 + Missense_Mutation SNP C C T TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr3:195959365C>T ENST00000296327.5 + 8 1065 c.856C>T c.(856-858)Cct>Tct p.P286S PCYT1A_ENST00000419333.1_Intron NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit TGCTTGTTCGCCTCCCTATTC 0.552000 7 86 0 0 0.000157383 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508447 37508447 + Nonsense_Mutation SNP T T G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr10:37508447T>G ENST00000374660.1 + 40 4095 c.3996T>G c.(3994-3996)taT>taG p.Y1332* ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y1213*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y1213* Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1269 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATCTCAATTATGCAGGAGATG 0.373000 3 36 0 0 6.4e-05 0 0 NRCAM 4897 broad.mit.edu 37 7 107880413 107880413 + Silent SNP T T C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr7:107880413T>C ENST00000379028.3 - 4 566 c.96A>G c.(94-96)gtA>gtG p.V32V NRCAM_ENST00000379022.4_Silent_p.V32V|NRCAM_ENST00000379024.4_Silent_p.V32V|NRCAM_ENST00000425651.2_Silent_p.V32V|NRCAM_ENST00000351718.4_Silent_p.V32V|NRCAM_ENST00000413765.2_Silent_p.V32V Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 32 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GATCAAGAGGTACTTCCAGTG 0.458000 16 152 0 0 0.00074312 0 0 NSRP1 84081 broad.mit.edu 37 17 28511696 28511696 + Missense_Mutation SNP A A G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr17:28511696A>G ENST00000247026.5 + 7 744 c.681A>G c.(679-681)atA>atG p.I227M NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 227 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 AAAACAGAATACCACAAGAGA 0.368000 3 51 0 0 6.4e-05 0 0 WNK1 65125 broad.mit.edu 37 12 966384 966384 + Missense_Mutation SNP G G A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr12:966384G>A ENST00000537687.1 + 5 2012 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K WNK1_ENST00000530271.2_Missense_Mutation_p.E457K|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000315939.6_Missense_Mutation_p.E457K|WNK1_ENST00000340908.4_Missense_Mutation_p.E50K|WNK1_ENST00000535572.1_Missense_Mutation_p.E457K NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 457 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GGAAATTATTGAAGGATGCAT 0.373000 23 29 0 0 0.000878237 0 0 AIFM2 84883 broad.mit.edu 37 10 71877572 71877572 + Silent SNP C C A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr10:71877572C>A ENST00000307864.1 - 6 825 c.612G>T c.(610-612)ctG>ctT p.L204L AIFM2_ENST00000373248.1_Silent_p.L204L|AIFM2_ENST00000482166.1_5'UTR NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 204 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 ACGTACTCAGCAGCAGCTGCA 0.637000 8 64 0.000442599 0.00168361 0.000442599 1 0 FADS3 3995 broad.mit.edu 37 11 61641315 61641315 + Missense_Mutation SNP T T C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr11:61641315T>C ENST00000278829.2 - 12 1461 c.1309A>G c.(1309-1311)Atc>Gtc p.I437V FADS3_ENST00000525588.1_Missense_Mutation_p.I409V|FADS3_ENST00000527697.1_Missense_Mutation_p.I322V|FADS3_ENST00000540820.1_3'UTR NM_021727.3 NP_068373.1 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 437 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCCAGCCAGATGTCACCAGAC 0.622000 3 28 0 0 0.00024832 0 0 KIN 22944 broad.mit.edu 37 10 7822139 7822139 + Missense_Mutation SNP T T G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr10:7822139T>G ENST00000379562.3 - 4 303 c.256A>C c.(256-258)Act>Cct p.T86P KIN_ENST00000535925.1_Missense_Mutation_p.T86P|KIN_ENST00000543003.1_5'UTR O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 86 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 ACCCTTTTAGTGCCTGAGAAC 0.388000 31 78 0 0 0.00209593 0 0 CDH3 1001 broad.mit.edu 37 16 68732283 68732283 + Missense_Mutation SNP G G A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr16:68732283G>A ENST00000264012.4 + 16 3014 c.2470G>A c.(2470-2472)Ggt>Agt p.G824S CDH3_ENST00000581171.1_Missense_Mutation_p.G769S|CDH3_ENST00000429102.2_3'UTR NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 824 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGACATGTACGGTGGCGGGGA 0.617000 40 58 0 0 0.00285205 0 0 HTT 3064 broad.mit.edu 37 4 3176835 3176835 + Splice_Site SNP G G C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr4:3176835G>C ENST00000355072.5 + 33 4552 c.e33+1 NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTCAGATCAGGTTTGTCACTT 0.388000 10 117 0 0 0.000442599 0 0 ZNF142 7701 broad.mit.edu 37 2 219505430 219505430 + Missense_Mutation SNP G G C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr2:219505430G>C ENST00000411696.2 - 8 5330 c.4551C>G c.(4549-4551)tgC>tgG p.C1517W ZNF142_ENST00000449707.1_Missense_Mutation_p.C1517W P52746 ZN142_HUMAN zinc finger protein 142 1517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGACCCACTTGCACTTGTAGC 0.493000 16 29 0 0 0.000566183 0 0 POM121L9P 0 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 4 23 0 0 0.000602214 0 0 NCAPG2 54892 broad.mit.edu 37 7 158443616 158443616 + Nonsense_Mutation SNP G G A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr7:158443616G>A ENST00000409339.3 - 24 3096 c.2983C>T c.(2983-2985)Cag>Tag p.Q995* NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000409423.1_Nonsense_Mutation_p.Q995* Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 995 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TGCCGAGACTGAACAGCAGTA 0.463000 12 98 0 0 0.00136819 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748753 43748753 + Nonsense_Mutation SNP T T A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr15:43748753T>A ENST00000263801.3 - 12 2290 c.2038A>T c.(2038-2040)Aaa>Taa p.K680* TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.K685* NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 680 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TTTTCTTCTTTGAGTTCCTCT 0.443000 Other conserved DNA damage response genes 10 127 0 0 0.000442599 0 0 C2orf44 80304 broad.mit.edu 37 2 24261454 24261454 + Missense_Mutation SNP C C G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr2:24261454C>G ENST00000295148.4 - 2 968 c.911G>C c.(910-912)aGa>aCa p.R304T C2orf44_ENST00000406895.3_Missense_Mutation_p.R304T NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 304 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCTTTTTTCTTAGACAAAT 0.373000 T ALK NSCLC 13 54 0 0 0.00136819 0 0 UNC13D 201294 broad.mit.edu 37 17 73838576 73838576 + Missense_Mutation SNP C C G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr17:73838576C>G ENST00000207549.4 - 6 886 c.507G>C c.(505-507)gaG>gaC p.E169D UNC13D_ENST00000412096.2_Missense_Mutation_p.E169D|UNC13D_ENST00000587504.1_5'UTR NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 169 C2 1. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCGGTGGGTCTCCTCCTCGG 0.667000 Familial Hemophagocytic Lymphohistiocytosis 12 69 0 0 0.00136819 0 0 GXYLT2 727936 broad.mit.edu 37 3 73016753 73016753 + Silent SNP C C T TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr3:73016753C>T ENST00000389617.4 + 6 1193 c.1032C>T c.(1030-1032)taC>taT p.Y344Y NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 344 O-glycan processing integral to membrane UDP-xylosyltransferase activity p.Y344Y(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 ACTGCATGTACGGAAGCAACT 0.498000 5 19 0 0 0.000602214 0 0 MADD 8567 broad.mit.edu 37 11 47350634 47350634 + Missense_Mutation SNP C C T TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr11:47350634C>T ENST00000342922.4 + 33 5057 c.4700C>T c.(4699-4701)tCg>tTg p.S1567L MADD_ENST00000407859.3_Missense_Mutation_p.S1544L|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.S1524L|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.S1520L|MADD_ENST00000349238.3_Missense_Mutation_p.S1587L|MADD_ENST00000311027.5_Missense_Mutation_p.S1626L|MADD_ENST00000402192.2_Missense_Mutation_p.S1566L NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1626 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TGTCTCTTCTCGTACGTGGCT 0.557000 80 121 0 0 0.000781405 0 0 ZNF827 152485 broad.mit.edu 37 4 146823855 146823855 + Missense_Mutation SNP T T G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr4:146823855T>G ENST00000508784.1 - 2 783 c.556A>C c.(556-558)Agt>Cgt p.S186R ZNF827_ENST00000379448.4_Missense_Mutation_p.S186R|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AAACGGTTACTTGGAGTGTAT 0.517000 6 83 0 0 0.00116845 0 0 HOXB13 10481 broad.mit.edu 37 17 46805442 46805442 + Missense_Mutation SNP A A C TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr17:46805442A>C ENST00000290295.7 - 1 1098 c.514T>G c.(514-516)Tgg>Ggg p.W172G NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 172 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 GCGAGAGCCCAAGACTGGTAA 0.567000 30 41 0 0 0.00178596 0 0 LCE2D 353141 broad.mit.edu 37 1 152636615 152636615 + Frame_Shift_Del DEL C C - TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr1:152636615delC ENST00000368784.1 + 2 89 c.34delC c.(34-36)ccfs p.P14fs NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 14 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGTGCCAGCCCCCTCCCAA 0.493 15 145 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710012 38710013 + RNA INS - - A rs71402229 TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr2:38710012_38710013insA ENST00000417039.1 - 0 696 CTTACTTCTTtaaaaaataaat 0.252 4 5 --- --- --- --- CHDH 55349 broad.mit.edu 37 3 53857978 53857992 + In_Frame_Del DEL CCAGGGCTCCCCGTG CCAGGGCTCCCCGTG - rs61746180 by1000genomes TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr3:53857978_53857992delCCAGGGCTCCCCGTG ENST00000315251.5 - 3 481_495 c.44_58delCACGGGGAGCCCTGG c.(43-60)ggg>g p.ARGALG15del NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 15 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) TGCTGCTGCCCCAGGGCTCCCCGTGCCAGGGCTCC 0.665 3 4 --- --- --- --- SRSF1 6426 broad.mit.edu 37 17 56083248 56083249 + Frame_Shift_Ins INS - - A TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9708a4f-76b5-4eb5-9831-a1f069096578 e152fd51-11d4-46c4-b803-1b79e8f6cf18 g.chr17:56083248_56083249insA ENST00000582730.2 - 3 588_589 c.465_466insT c.(463-468)gagcacfs p.EH155fs SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.EH155fs|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000258962.4_Frame_Shift_Ins_p.EH155fs NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 155 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACACCAGTGCCATCTCGGTAAA 0.426 22 50 --- --- --- ---