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 GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks ref_context gc_content COSMIC_n_overlapping_mutations ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_Chromosome ESP_Position ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term HGNC_AccessionNumbers HGNC_CCDSIDs HGNC_Chromosome HGNC_DateModified HGNC_DateNameChanged HGNC_DateSymbolChanged HGNC_EnsemblGeneID HGNC_EnsemblIDsuppliedbyEnsembl HGNC_Genefamilydescription HGNC_HGNCID HGNC_LocusGroup HGNC_LocusType HGNC_NameSynonyms HGNC_OMIMIDsuppliedbyNCBI HGNC_PreviousNames HGNC_PreviousSymbols HGNC_PubmedIDs HGNC_RecordType HGNC_RefSeqsuppliedbyNCBI HGNC_Status HGNC_Synonyms HGNC_UCSCIDsuppliedbyUCSC HGNC_UniProtIDsuppliedbyUniProt HGNC_VEGAIDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change UniProt_alt_uniprot_accessions annotation_transcript build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript init_n_lod init_t_lod isArtifactMode n_alt_count n_ref_count oxoGCut pox pox_cutoff qox refseq_mrna_id t_alt_count t_lod_fstar t_ref_count tumor_f LILRA1 11024 broad.mit.edu hg19 19 55106755 55106755 + Silent SNP T T C TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr19:55106755T>C ENST00000453777.1 + 5 719 c.549T>C c.(547-549)tcT>tcC p.S183S LILRA1_ENST00000251372.3_Silent_p.S183S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 183 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCATCTTCTCTGTGGGCCCCG 0.567 1 155.0 158.0 157.0 19 55106755 2203 4300 6503 SO:0001819 synonymous_variant AF025530 CCDS12901.1, CCDS62802.1 19q13.4 2013-01-11 ENSG00000104974 ENSG00000104974 """Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6602 protein-coding gene gene with protein product 604810 9548455 Standard NM_006863 Approved LIR-6, CD85i, LIR6 uc002qgh.2 O75019 OTTHUMG00000065701 ENST00000251372.3:c.549T>C 19.37:g.55106755T>C O75018|Q3MJA6 ENST00000251372.3 37 CCDS12901.1 LILRA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000140807.2 -32.428414 0 70 196 0 0 1 0 NM_006863 4 7.305566 155 0.025157 DNAJC1 64215 broad.mit.edu hg19 10 22055195 22055195 + Missense_Mutation SNP G G C TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr10:22055195G>C ENST00000376980.3 - 10 1432 c.1142C>G c.(1141-1143)tCc>tGc p.S381C DNAJC1_ENST00000483085.1_5'UTR NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 381 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) CTCACCTGGGGAGCAGGTCAC 0.353 0 144.0 150.0 148.0 10 22055195 2203 4300 6503 SO:0001583 missense AK026062 CCDS7136.1 10p11.23 2011-09-02 ENSG00000136770 ENSG00000136770 """Heat shock proteins / DNAJ (HSP40)""" 20090 protein-coding gene gene with protein product 611207 Standard NM_022365 Approved DNAJL1, ERdj1, MTJ1 uc001irc.3 Q96KC8 OTTHUMG00000017800 ENST00000376980.3:c.1142C>G 10.37:g.22055195G>C ENSP00000366179:p.Ser381Cys B0YIZ8|Q5VX89|Q9H6B8 ENST00000376980.3 37 CCDS7136.1 . . . . . . . . . . G 21.5 4.154020 0.78114 . . ENSG00000136770 ENST00000376980 T 0.29655 1.56 5.24 5.24 0.73138 Homeodomain-like (1); 0.229461 0.43747 D 0.000523 T 0.45994 0.1370 L 0.50333 1.59 0.80722 D 1 D;D 0.76494 0.999;0.993 P;P 0.55667 0.781;0.628 T 0.45498 -0.9257 10 0.87932 D 0 -0.2663 18.8415 0.92186 0.0:0.0:1.0:0.0 . 102;381 Q96NY3;Q96KC8 .;DNJC1_HUMAN C 381 ENSP00000366179:S381C ENSP00000366179:S381C S - 2 0 DNAJC1 22095201 1.000000 0.71417 1.000000 0.80357 0.900000 0.52787 4.055000 0.57441 2.447000 0.82792 0.591000 0.81541 TCC DNAJC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047149.1 190.501277 0 57 154 0 0 1 0 NM_022365 56 190.501277 56 0.500000 CHST9 83539 broad.mit.edu hg19 18 24496802 24496802 + Silent SNP G G A TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr18:24496802G>A ENST00000284224.8 - 6 1030 c.753C>T c.(751-753)taC>taT p.Y251Y CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.Y251Y|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 251 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) AATGCTTCCCGTAGTGGACAG 0.423 0 148.0 135.0 139.0 18 24496802 1886 4111 5997 SO:0001819 synonymous_variant AF239821 CCDS42422.1, CCDS58618.1 18q11.2 2011-04-28 ENSG00000154080 ENSG00000154080 """Sulfotransferases, membrane-bound""" 19898 protein-coding gene gene with protein product 610191 11139592, 11445554 Standard NM_031422 Approved GALNAC4ST-2, GALNAC-4-ST2 uc002kwe.4 Q7L1S5 ENST00000284224.8:c.753C>T 18.37:g.24496802G>A Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9 ENST00000284224.8 37 CCDS42422.1 CHST9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000446549.1 -11.039686 0 51 128 0 0 1 0 NM_031422 3 6.346951 73 0.039474 GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr9:80409488T>G ENST00000286548.4 - 5 848 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348 153 108.0 105.0 106.0 9 80409488 2203 4300 6503 SO:0001583 missense CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 4390 protein-coding gene gene with protein product 600998 8825633 Standard NM_002072 Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.626A>C 9.37:g.80409488T>G ENSP00000286548:p.Gln209Pro O15108|Q13462|Q6NT27|Q92471|Q9BZB9 ENST00000286548.4 37 CCDS6658.1 . . . . . . . . . . T 25.2 4.614273 0.87359 . . ENSG00000156052 ENST00000286548;ENST00000397476 D;D 0.91237 -2.81;-2.81 5.69 5.69 0.88448 . 0.000000 0.85682 D 0.000000 D 0.97164 0.9073 H 0.97291 3.975 0.80722 D 1 D 0.76494 0.999 D 0.85130 0.997 D 0.98607 1.0661 10 0.87932 D 0 . 15.9502 0.79827 0.0:0.0:0.0:1.0 . 209 P50148 GNAQ_HUMAN P 209;7 ENSP00000286548:Q209P;ENSP00000443197:Q7P ENSP00000286548:Q209P Q - 2 0 GNAQ 79599308 1.000000 0.71417 0.999000 0.59377 0.995000 0.86356 8.040000 0.89188 2.167000 0.68274 0.460000 0.39030 CAA GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052761.1 148.366306 0 26 137 0 0 1 0 NM_002072 45 148.583640 55 0.450000 CDHR1 92211 broad.mit.edu hg19 10 85956312 85956312 + Missense_Mutation SNP C C T TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr10:85956312C>T ENST00000372117.3 + 3 306 c.203C>T c.(202-204)tCc>tTc p.S68F CDHR1_ENST00000332904.3_Missense_Mutation_p.S68F NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 68 Cadherin 1. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GACCCCATCTCCTACCACATC 0.507 0 145.0 124.0 131.0 10 85956312 2203 4300 6503 SO:0001583 missense AB053448 CCDS7372.1, CCDS53548.1 10q23.1 2014-01-28 2010-01-25 2010-01-25 ENSG00000148600 ENSG00000148600 """Cadherins / Cadherin-related""" 14550 protein-coding gene gene with protein product 609502 """protocadherin 21""" PCDH21 11597768 Standard NM_001171971 Approved KIAA1775, CORD15, RP65 uc001kcv.3 Q96JP9 OTTHUMG00000018634 ENST00000372117.3:c.203C>T 10.37:g.85956312C>T ENSP00000361189:p.Ser68Phe Q69YZ8|Q8IXY5 ENST00000372117.3 37 CCDS7372.1 . . . . . . . . . . C 18.11 3.549780 0.65311 . . ENSG00000148600 ENST00000332904;ENST00000372117 T;T 0.52057 0.68;0.68 5.57 5.57 0.84162 Cadherin (4);Cadherin-like (1); 0.519821 0.19853 N 0.104587 T 0.61274 0.2334 L 0.49640 1.575 0.80722 D 1 D;D 0.57571 0.98;0.978 P;P 0.60682 0.807;0.878 T 0.54781 -0.8242 10 0.33141 T 0.24 -28.0597 18.3121 0.90204 0.0:1.0:0.0:0.0 . 68;68 Q96JP9-2;Q96JP9 .;CDHR1_HUMAN F 68 ENSP00000331063:S68F;ENSP00000361189:S68F ENSP00000331063:S68F S + 2 0 CDHR1 85946292 1.000000 0.71417 0.994000 0.49952 0.750000 0.42670 3.282000 0.51693 2.630000 0.89119 0.561000 0.74099 TCC CDHR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049111.1 90.275718 0 -9 82 0 0 1 0 NM_033100 29 90.311166 26 0.527273 ZNF439 90594 broad.mit.edu hg19 19 11978607 11978607 + Silent SNP G G A TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr19:11978607G>A ENST00000304030.2 + 3 923 c.723G>A c.(721-723)ccG>ccA p.P241P ZNF439_ENST00000455282.1_Silent_p.P105P|ZNF439_ENST00000592534.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 GAGAGAAACCGTATGAATGTA 0.363 1 83.0 83.0 83.0 19 11978607 2203 4300 6503 SO:0001819 synonymous_variant AL833935 CCDS12268.1 19p13.13 2013-01-08 ENSG00000171291 ENSG00000171291 """Zinc fingers, C2H2-type"", ""-""" 20873 protein-coding gene gene with protein product Standard NM_152262 Approved DKFZp571K0837 uc002mss.3 Q8NDP4 OTTHUMG00000156527 ENST00000304030.2:c.723G>A 19.37:g.11978607G>A Q8IYZ7|Q96SU1 ENST00000304030.2 37 CCDS12268.1 ZNF439-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344513.1 -14.883555 0 65 174 0 0 1 0 4 6.801264 92 0.041667 ZNF484 83744 broad.mit.edu hg19 9 95608788 95608788 + Missense_Mutation SNP A A C TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr9:95608788A>C ENST00000395505.2 - 3 2265 c.2173T>G c.(2173-2175)Tca>Gca p.S725A ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.S763A|ZNF484_ENST00000332591.6_Missense_Mutation_p.S725A|ZNF484_ENST00000375495.3_Missense_Mutation_p.S761A NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TGGAGTTGTGATTTCTTAATG 0.393 0 130.0 130.0 130.0 9 95608788 2203 4300 6503 SO:0001583 missense AK091203 CCDS35066.1, CCDS35067.1, CCDS59136.1 9q22.32 2013-01-08 ENSG00000127081 ENSG00000127081 """Zinc fingers, C2H2-type"", ""-""" 23385 protein-coding gene gene with protein product Standard NM_001007101 Approved BA526D8.4, FLJ33884 uc004asu.2 Q5JVG2 OTTHUMG00000020236 ENST00000375495.3:c.2281T>G 9.37:g.95608788A>C ENSP00000364645:p.Ser761Ala B1AL89|B4DRI2 ENST00000375495.3 37 CCDS35066.1 . . . . . . . . . . . 13.44 2.237208 0.39498 . . ENSG00000127081 ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591 T;T;T;T 0.07327 3.2;4.77;4.77;3.2 2.65 1.47 0.22746 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.07638 0.0192 L 0.43646 1.37 0.09310 N 1 B;B 0.22800 0.075;0.075 B;B 0.17433 0.018;0.018 T 0.31052 -0.9957 9 0.48119 T 0.1 . 6.5244 0.22293 0.7846:0.0:0.0:0.2154 . 763;761 B4DRI2;Q5JVG2 .;ZN484_HUMAN A 725;763;761;725 ENSP00000378881:S725A;ENSP00000378882:S763A;ENSP00000364645:S761A;ENSP00000364646:S725A ENSP00000364646:S725A S - 1 0 ZNF484 94648609 0.000000 0.05858 0.995000 0.50966 0.990000 0.78478 -2.050000 0.01404 0.409000 0.25649 0.450000 0.29827 TCA ZNF484-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000053111.2 125.674604 0 25 183 0 0 1 0 XM_046861 40 126.979900 65 0.380952 SF3B1 23451 broad.mit.edu hg19 2 198267483 198267483 + Missense_Mutation SNP C C T TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr2:198267483C>T ENST00000335508.6 - 14 1965 c.1874G>A c.(1873-1875)cGt>cAt p.R625H NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TGTTGTGTTACGGACATACTC 0.438 12 95.0 92.0 93.0 2 198267483 2203 4300 6503 SO:0001583 missense AF054284 CCDS33356.1, CCDS46479.1 2q33.1 2014-09-17 2002-08-29 ENSG00000115524 ENSG00000115524 10768 protein-coding gene gene with protein product 605590 """splicing factor 3b, subunit 1, 155kD""" 9585501 Standard XM_005246428 Approved SAP155, SF3b155, PRPF10, Prp10, Hsh155 uc002uue.3 O75533 OTTHUMG00000154447 ENST00000335508.6:c.1874G>A 2.37:g.198267483C>T ENSP00000335321:p.Arg625His E9PCH3 ENST00000335508.6 37 CCDS33356.1 . . . . . . . . . . C 35 5.485860 0.96323 . . ENSG00000115524 ENST00000335508 T 0.74421 -0.84 5.82 5.82 0.92795 Armadillo-like helical (1);Armadillo-type fold (1); 0.053241 0.64402 D 0.000001 D 0.91369 0.7277 H 0.96333 3.805 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.93329 0.6699 10 0.87932 D 0 . 20.0991 0.97865 0.0:1.0:0.0:0.0 . 625 O75533 SF3B1_HUMAN H 625 ENSP00000335321:R625H ENSP00000335321:R625H R - 2 0 SF3B1 197975728 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.728000 0.84847 2.752000 0.94435 0.655000 0.94253 CGT SF3B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335245.2 64.937226 0 42 96 0 0 1 0 22 65.586685 35 0.385965 TMOD2 29767 broad.mit.edu hg19 15 52065948 52065948 + Missense_Mutation SNP G G A rs114844653 by1000genomes TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr15:52065948G>A ENST00000249700.4 + 4 544 c.323G>A c.(322-324)cGt>cAt p.R108H TMOD2_ENST00000435126.2_Missense_Mutation_p.R108H|TMOD2_ENST00000539962.2_Missense_Mutation_p.R64H NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 108 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) ATAGAAACTCGTAAAGAAGAA 0.408 0 104.0 103.0 104.0 15 52065948 2195 4293 6488 SO:0001583 missense AF177169 CCDS10144.1, CCDS45260.1 15q21.2 2008-05-14 ENSG00000128872 ENSG00000128872 11872 protein-coding gene gene with protein product 602928 10662549 Standard NM_014548 Approved NTMOD uc002abk.3 Q9NZR1 OTTHUMG00000131805 ENST00000249700.4:c.323G>A 15.37:g.52065948G>A ENSP00000249700:p.Arg108His B4DEW6 ENST00000249700.4 37 CCDS10144.1 . . . . . . . . . . G 9.502 1.103365 0.20632 0.0 1.16E-4 ENSG00000128872 ENST00000435126;ENST00000249700;ENST00000539962 T;T;T 0.31247 1.5;1.5;1.5 5.36 -5.36 0.02689 . 0.337879 0.32518 N 0.005991 T 0.10078 0.0247 N 0.08118 0 0.21473 N 0.999674 B;B 0.10296 0.003;0.0 B;B 0.08055 0.003;0.003 T 0.06463 -1.0825 10 0.36615 T 0.2 3.3239 4.0375 0.09737 0.5078:0.1136:0.2861:0.0924 . 108;108 Q9NZR1-2;Q9NZR1 .;TMOD2_HUMAN H 108;108;64 ENSP00000404590:R108H;ENSP00000249700:R108H;ENSP00000437743:R64H ENSP00000249700:R108H R + 2 0 TMOD2 49853240 0.000000 0.05858 0.004000 0.12327 0.997000 0.91878 -0.646000 0.05403 -0.907000 0.03862 0.655000 0.94253 CGT TMOD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254742.2 143.905855 0 35 122 0 0 1 0 44 143.971482 39 0.530120 ADD1 118 broad.mit.edu hg19 4 2877722 2877722 + Missense_Mutation SNP G G C TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr4:2877722G>C ENST00000355842.3 + 3 943 c.80G>C c.(79-81)cGa>cCa p.R27P ADD1_ENST00000503455.2_Missense_Mutation_p.R27P|ADD1_ENST00000398123.2_Missense_Mutation_p.R27P|ADD1_ENST00000264758.7_Missense_Mutation_p.R27P|ADD1_ENST00000398129.1_Missense_Mutation_p.R27P|ADD1_ENST00000513328.2_Missense_Mutation_p.R27P|ADD1_ENST00000446856.1_Missense_Mutation_p.R27P|ADD1_ENST00000398125.1_Missense_Mutation_p.R27P P35611 ADDA_HUMAN adducin 1 (alpha) 27 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TACTTCGACCGAGTAGATGAG 0.527 0 135.0 134.0 135.0 4 2877722 2203 4300 6503 SO:0001583 missense L07261 CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1 4p16.3 2009-04-22 ENSG00000087274 ENSG00000087274 243 protein-coding gene gene with protein product 102680 1840603 Standard NM_001119 Approved uc003gfq.3 P35611 OTTHUMG00000122080 ENST00000355842.3:c.80G>C 4.37:g.2877722G>C ENSP00000348100:p.Arg27Pro A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6 ENST00000355842.3 37 . . . . . . . . . . G 23.2 4.382494 0.82792 . . ENSG00000087274 ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129 T;T;T;T;T;T;T;T;T;T 0.33216 1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42 4.99 4.99 0.66335 . 0.000000 0.85682 D 0.000000 T 0.59998 0.2235 M 0.80616 2.505 0.80722 D 1 D;D;D;D;D;D;D 0.89917 1.0;1.0;0.999;1.0;0.998;1.0;0.999 D;D;D;D;D;D;D 0.87578 0.996;0.996;0.998;0.996;0.995;0.998;0.983 T 0.65092 -0.6252 10 0.72032 D 0.01 -12.8883 18.4459 0.90683 0.0:0.0:1.0:0.0 . 27;27;27;27;27;27;27 E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8 .;.;.;ADDA_HUMAN;.;.;. P 27 ENSP00000264758:R27P;ENSP00000399828:R27P;ENSP00000381193:R27P;ENSP00000421918:R27P;ENSP00000421907:R27P;ENSP00000426700:R27P;ENSP00000423024:R27P;ENSP00000348100:R27P;ENSP00000381191:R27P;ENSP00000381197:R27P ENSP00000264758:R27P R + 2 0 ADD1 2847520 1.000000 0.71417 0.979000 0.43373 0.571000 0.35966 7.529000 0.81952 2.597000 0.87782 0.591000 0.81541 CGA ADD1-002 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000242839.1 99.413678 0 24 106 0 0 1 0 NM_014189 31 99.905056 44 0.413333 GP2 2813 broad.mit.edu hg19 16 20331019 20331019 + Silent SNP G G T TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr16:20331019G>T ENST00000302555.5 - 6 1079 c.930C>A c.(928-930)atC>atA p.I310I GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Silent_p.I163I|GP2_ENST00000381360.5_Silent_p.I166I|GP2_ENST00000381362.4_Silent_p.I313I P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 313 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGATGTTGAGGATGGTGTCTC 0.448 0 410.0 377.0 388.0 16 20331019 2203 4300 6503 SO:0001819 synonymous_variant U36221 CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1 16p12.3 2008-02-05 ENSG00000169347 ENSG00000169347 4441 protein-coding gene gene with protein product 602977 9605860 Standard XM_005255259 Approved uc002dgw.3 P55259 OTTHUMG00000131489 ENST00000381362.4:c.939C>A 16.37:g.20331019G>T A6NFM9|A6NJA8|Q13338|Q9UIF1 ENST00000381362.4 37 CCDS42128.1 GP2-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000436920.1 245.667650 1 63 224 0 1.5608e-48 1 1.80724e-48 NM_016295 82 245.703119 77 0.515723 GSG2 83903 broad.mit.edu hg19 17 3628701 3628701 + Missense_Mutation SNP G G C TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr17:3628701G>C ENST00000325418.4 + 1 1491 c.1472G>C c.(1471-1473)gGg>gCg p.G491A ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 491 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity GAGAAGATTGGGGAAGGGGTG 0.458 0 58.0 56.0 57.0 17 3628701 2203 4300 6503 SO:0001583 missense AB039834 CCDS11036.1 17p13 2005-01-19 ENSG00000177602 ENSG00000177602 19682 protein-coding gene gene with protein product 609240 Standard NM_031965 Approved haspin uc002fwp.3 Q8TF76 OTTHUMG00000090703 ENST00000325418.4:c.1472G>C 17.37:g.3628701G>C ENSP00000325290:p.Gly491Ala Q5U5K3|Q96MN1|Q9BXS7 ENST00000325418.4 37 CCDS11036.1 . . . . . . . . . . G 18.11 3.550657 0.65311 . . ENSG00000177602 ENST00000325418 D 0.82081 -1.57 4.87 4.87 0.63330 Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.53938 D 0.000055 D 0.90741 0.7094 M 0.78801 2.425 0.80722 D 1 D 0.76494 0.999 D 0.81914 0.995 D 0.91719 0.5387 10 0.87932 D 0 -25.2746 16.0321 0.80585 0.0:0.0:1.0:0.0 . 491 Q8TF76 HASP_HUMAN A 491 ENSP00000325290:G491A ENSP00000325290:G491A G + 2 0 GSG2 3575450 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.123000 0.77176 2.648000 0.89879 0.655000 0.94253 GGG GSG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207391.1 80.205254 0 36 100 0 0 1 0 NM_031965 27 80.920405 42 0.391304 ADAMTS10 81794 broad.mit.edu hg19 19 8656924 8656924 + Missense_Mutation SNP C C A TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr19:8656924C>A ENST00000270328.4 - 13 1917 c.1651G>T c.(1651-1653)Ggg>Tgg p.G551W ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G551W|ADAMTS10_ENST00000595838.1_Silent_p.G41G Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 551 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GTCCACGGCCCCCAGGCTCCG 0.687 0 23.0 26.0 25.0 19 8656924 2203 4297 6500 SO:0001583 missense AF163762 CCDS12206.1, CCDS62529.1 19p13.2 2014-08-12 2005-08-19 ENSG00000142303 ENSG00000142303 """ADAM metallopeptidases with thrombospondin type 1 motif""" 13201 protein-coding gene gene with protein product 608990 """a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10""" Standard XM_005272499 Approved ADAM-TS10 uc002mkj.1 Q9H324 OTTHUMG00000182216 ENST00000597188.1:c.1651G>T 19.37:g.8656924C>A ENSP00000471851:p.Gly551Trp M0QZE4 ENST00000597188.1 37 CCDS12206.1 . . . . . . . . . . C 19.15 3.772685 0.69992 . . ENSG00000142303 ENST00000270328;ENST00000393912 T 0.55760 0.5 4.63 4.63 0.57726 . 0.222827 0.38217 N 0.001773 D 0.82291 0.5005 H 0.97491 4.015 0.80722 D 1 P;D 0.71674 0.956;0.998 P;D 0.87578 0.754;0.998 D 0.89347 0.3658 10 0.87932 D 0 . 16.4707 0.84111 0.0:1.0:0.0:0.0 . 305;551 Q59FE5;Q9H324 .;ATS10_HUMAN W 551;305 ENSP00000270328:G551W ENSP00000270328:G551W G - 1 0 ADAMTS10 8562924 1.000000 0.71417 1.000000 0.80357 0.485000 0.33311 5.461000 0.66699 2.122000 0.65172 0.467000 0.42956 GGG ADAMTS10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000460085.3 6.950823 1 10 64 0 0.0293803 1 0.0307794 NM_030957 5 11.962136 33 0.131579 BTN2A1 11120 broad.mit.edu hg19 6 26458919 26458919 + Missense_Mutation SNP C C A TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr6:26458919C>A ENST00000429381.1 + 2 267 c.55C>A c.(55-57)Ctc>Atc p.L19I BTN2A1_ENST00000312541.5_Missense_Mutation_p.L19I|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L19I Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 19 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 CCTCCTCCTCCTCCTCAGCCT 0.582 0 157.0 121.0 134.0 6 26458919 2203 4300 6503 SO:0001583 missense U90543 CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1 6p22.1 2014-01-14 ENSG00000112763 ENSG00000112763 """Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins""" 1136 protein-coding gene gene with protein product 613590 9382921, 9149941 Standard NM_007049 Approved BT2.1, BTF1, BTN2.1 uc003nib.2 Q7KYR7 OTTHUMG00000014457 ENST00000312541.5:c.55C>A 6.37:g.26458919C>A ENSP00000312158:p.Leu19Ile B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62 ENST00000312541.5 37 CCDS4613.1 . . . . . . . . . . C 12.87 2.066627 0.36470 . . ENSG00000112763 ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185 T;T;T 0.80033 -0.63;-1.33;-1.33 3.03 -6.06 0.02165 Immunoglobulin-like (1); 2.830930 0.01625 N 0.023249 T 0.60945 0.2308 M 0.73319 2.225 0.09310 N 0.999997 D;P 0.54397 0.966;0.908 P;B 0.46144 0.505;0.277 T 0.64512 -0.6390 10 0.45353 T 0.12 . 0.458 0.00512 0.3696:0.2048:0.1227:0.3029 . 19;19 Q96AV7;Q7KYR7 .;BT2A1_HUMAN I 19 ENSP00000312158:L19I;ENSP00000416945:L19I;ENSP00000419043:L19I ENSP00000265424:L19I L + 1 0 BTN2A1 26566898 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -1.335000 0.02662 -1.982000 0.00988 -0.516000 0.04426 CTC BTN2A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040122.2 -15.591623 1 11 89 0 1 1 1 NM_007049 4 7.786387 98 0.039216 CSMD3 114788 broad.mit.edu hg19 8 113702197 113702197 + Silent SNP A A T TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr8:113702197A>T ENST00000297405.5 - 14 2299 c.2055T>A c.(2053-2055)gtT>gtA p.V685V CSMD3_ENST00000455883.2_Silent_p.V581V|CSMD3_ENST00000343508.3_Silent_p.V645V|CSMD3_ENST00000352409.3_Silent_p.V685V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 685 Sushi 3. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAAACCTTAAAACATCACGAT 0.358 0 168.0 174.0 172.0 8 113702197 2203 4300 6503 SO:0001819 synonymous_variant AY210419 CCDS6315.1, CCDS6316.2, CCDS6317.1 8q23.3 2007-01-06 ENSG00000164796 ENSG00000164796 19291 protein-coding gene gene with protein product 608399 Standard NM_052900 Approved uc003ynu.3 Q7Z407 OTTHUMG00000157027 ENST00000297405.5:c.2055T>A 8.37:g.113702197A>T Q96PZ3 ENST00000297405.5 37 CCDS6315.1 CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347141.1 171.639867 0 99 289 0 0 1 0 NM_052900 66 183.234859 178 0.270492 CENPE 1062 broad.mit.edu hg19 4 104062907 104062907 + Splice_Site SNP C C G TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr4:104062907C>G ENST00000265148.3 - 35 5552 c.5463G>C c.(5461-5463)aaG>aaC p.K1821N CENPE_ENST00000380026.3_Splice_Site_p.K1796N NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1821 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ATAAAAATACCTTTTCTTGTA 0.313 0 67.0 64.0 65.0 4 104062907 2202 4298 6500 SO:0001630 splice_region_variant Z15005 CCDS34042.1, CCDS68768.1 4q24-q25 2013-11-05 2002-08-29 ENSG00000138778 """Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 1856 protein-coding gene gene with protein product """protein phosphatase 1, regulatory subunit 61""" 117143 """centromere protein E (312kD)""" 7851898 Standard NM_001286734 Approved KIF10, PPP1R61 uc003hxb.1 Q02224 ENST00000380026.3:c.5388+1G>C 4.37:g.104062907C>G A6NKY9|A8K2U7|Q4LE75 ENST00000380026.3 37 . . . . . . . . . . C 15.67 2.902313 0.52227 . . ENSG00000138778 ENST00000265148;ENST00000394771;ENST00000380026 T;T 0.71341 -0.56;-0.56 4.01 4.01 0.46588 . . . . . D 0.82323 0.5012 M 0.78801 2.425 0.36445 D 0.865731 D;D 0.89917 1.0;0.998 D;D 0.87578 0.998;0.94 D 0.85866 0.1413 8 . . . . 11.5291 0.50597 0.0:1.0:0.0:0.0 . 1796;1821 Q02224-3;Q02224 .;CENPE_HUMAN N 1821;1821;1796 ENSP00000265148:K1821N;ENSP00000369365:K1796N . K - 3 2 CENPE 104282356 1.000000 0.71417 1.000000 0.80357 0.970000 0.65996 3.531000 0.53546 2.069000 0.61940 0.643000 0.83706 AAG CENPE-001 KNOWN basic protein_coding protein_coding OTTHUMT00000363246.2 27.976926 0 43 91 0 0 1 0 9 28.107919 6 0.600000 C20orf96 140680 broad.mit.edu hg19 20 258020 258021 + Frame_Shift_Del DEL AA AA - TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr20:258020_258021delAA ENST00000360321.2 - 7 707_708 c.569_570delTT c.(568-570)cttfs p.L190fs C20orf96_ENST00000382369.5_Frame_Shift_Del_p.L155fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.L132fs NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 190 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCTGCTGCTCAAGATCTGGGGA 0.574 0 SO:0001589 frameshift_variant AL034548 CCDS12994.1, CCDS74685.1 20p13 2012-10-30 ENSG00000196476 ENSG00000196476 16227 protein-coding gene gene with protein product Standard NM_153269 Approved dJ1103G7.2 uc002wde.2 Q9NUD7 OTTHUMG00000031626 ENST00000360321.2:c.569_570delTT 20.37:g.258020_258021delAA ENSP00000353470:p.Leu190fs A3KPE0|B2RPH9|Q8N840|Q8NAX5 ENST00000360321.2 37 CCDS12994.1 C20orf96-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077439.2 . . 68 244 NM_153269 91 115 0.44 KMT2D 8085 broad.mit.edu hg19 12 49427665 49427667 + In_Frame_Del DEL TGC TGC - TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr12:49427665_49427667delTGC ENST00000301067.7 - 39 10820_10822 c.10821_10823delGCA c.(10819-10824)cagcaa>caa p.3607_3608QQ>Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ttgctgttgttgctgctgctgct 0.586 2 SO:0001651 inframe_deletion AF010403 CCDS44873.1 12q13.12 2013-05-09 2013-05-09 2013-05-09 ENSG00000167548 ENSG00000167548 """Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type""" 7133 protein-coding gene gene with protein product 602113 """trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2""" TNRC21, MLL2 9247308 Standard NM_003482 Approved ALR, MLL4, CAGL114 O14686 OTTHUMG00000166524 ENST00000301067.7:c.10821_10823delGCA 12.37:g.49427674_49427676delTGC ENSP00000301067:p.Gln3612del O14687 ENST00000301067.7 37 CCDS44873.1 KMT2D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390183.2 . . 3 9 2 4 0.33 OVCA2 124641 broad.mit.edu hg19 17 1945490 1945491 + Frame_Shift_Ins INS - - C TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr17:1945490_1945491insC ENST00000572195.1 + 1 164_165 c.149_150insC c.(148-153)gaccccfs p.DP50fs DPH1_ENST00000570477.1_Intron|DPH1_ENST00000263083.6_Intron NM_080822.2 NP_543012.1 Q8WZ82 OVCA2_HUMAN ovarian tumor suppressor candidate 2 50 response to retinoic acid cytoplasm hydrolase activity CCGGTCCCCGACCCCCCGGGCC 0.703 0 SO:0001589 frameshift_variant AF321875 CCDS11015.1 17p13.3 2012-10-08 ENSG00000262664 ENSG00000262664 24203 protein-coding gene gene with protein product """candidate tumor suppressor in ovarian cancer 2""" 607896 11979432, 8616839, 16368187 Standard NM_080822 Approved uc002ftx.3 Q8WZ82 OTTHUMG00000132471 ENST00000572195.1:c.155dupC 17.37:g.1945496_1945496dupC ENSP00000461388:p.Asp50fs Q86XN3|Q8IW87|Q9UCX9 ENST00000572195.1 37 CCDS11015.1 OVCA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255636.5 . . -8 4 NM_080822 2 4 0.33 TECPR1 25851 broad.mit.edu hg19 7 97858474 97858474 + Frame_Shift_Del DEL A A - TCGA-V4-A9E9-01A-11D-A39W-08 TCGA-V4-A9E9-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx af98e0da-fe6a-4d8c-bbff-f6810144d856 5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a g.chr7:97858474delA ENST00000447648.2 - 16 2586 c.2287delT c.(2287-2289)tggfs p.W763fs TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs|TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 763 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATCTGCCGCCAAAACCTGGAA 0.642 0 18.0 23.0 21.0 7 97858474 1922 4094 6016 SO:0001589 frameshift_variant CCDS47648.1 7q21.3 2009-01-30 ENSG00000205356 ENSG00000205356 22214 protein-coding gene gene with protein product 614781 Standard NM_015395 Approved DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358 uc003upg.4 Q7Z6L1 OTTHUMG00000154273 ENST00000447648.2:c.2287delT 7.37:g.97858474delA ENSP00000404923:p.Trp763fs A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6 ENST00000447648.2 37 CCDS47648.1 TECPR1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000334661.1 . . -2 5 NM_015395 2 4 0.33