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 COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_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 ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad 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 entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high CSRNP1 64651 broad.mit.edu 37 3 39185116 39185117 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:39185116_39185117delAG ENST00000273153.5 - 5 1376_1377 c.1199_1200delCT c.(1198-1200)tctfs p.S400fs CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.S400fs NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 24 CACCGAAGTCAGAGTCACTGAA 0.604000 0 SO:0001589 frameshift_variant ENST00000273153.5 0 1 hg19 CCDS2682.1 TCGA-HZ-A4BK-01A-11D-A26I-08 CSRNP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254061.1 1 0 0 16 234 0 59 1 7.721509e-01 5 38 0 59 2 0 0 0 0 0 0 0 0.107729 23 233 3 60 25 -19.418880 1 0 0 0 1 0 0 0 1.778713 1 0.320000 1.790000 0.208566 0.340000 0.200000 0.520000 0.340000 0.356785 0.340000 0 2.600000e-01 4.400000e-01 MKX 283078 broad.mit.edu 37 10 27964309 27964309 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:27964309G>A ENST00000375790.5 - 7 1340 c.908C>T c.(907-909)aCg>aTg p.T303M MKX_ENST00000419761.1_Missense_Mutation_p.T303M Q8IYA7 MKX_HUMAN mohawk homeobox 16 CTTCCAATACGTGTCATCCTT 0.458000 0 SO:0001583 missense ENST00000375790.5 1 1 hg19 CCDS7156.1 . . . . . . . . . . G 25.8 4.675117 0.88445 . . ENSG00000150051 ENST00000375790;ENST00000419761 T;T 0.19394 2.15;2.15 6.05 6.05 0.98169 . 0.000000 0.85682 D 0.000000 T 0.44435 0.1293 L 0.55481 1.735 0.80722 D 1 D 0.89917 1.0 D 0.65987 0.94 T 0.11916 -1.0568 10 0.72032 D 0.01 -26.4697 20.6013 0.99457 0.0:0.0:1.0:0.0 . 303 Q8IYA7 MKX_HUMAN M 303 ENSP00000364946:T303M;ENSP00000400896:T303M ENSP00000364946:T303M T - 2 0 MKX 28004315 1.000000 0.71417 0.989000 0.46669 0.896000 0.52359 7.322000 0.79097 2.878000 0.98634 0.650000 0.86243 ACG TCGA-HZ-A4BK-01A-11D-A26I-08 MKX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047332.3 1 0 0 59 626 0 92 0 0 0 0 92 2 0 0 0 0 0 2 1 1.000000 58 625 0 92 2 -15.191460 1 1 0 0 1 0 0 0 2.000691 0 0.320000 1.790000 0.295191 0.510000 0.390000 0.650000 0.520000 0.524804 0.510000 0 4.500000e-01 5.900000e-01 CCDC7 79741 broad.mit.edu 37 10 32740612 32740612 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:32740612G>A ENST00000362006.5 + 2 585 c.42G>A c.(40-42)tcG>tcA p.S14S CCDC7_ENST00000277657.6_Silent_p.S14S|CCDC7_ENST00000537047.1_Silent_p.S14S|CCDC7_ENST00000545067.1_Silent_p.S14S|CCDC7_ENST00000539197.1_Silent_p.S14S|CCDC7_ENST00000535327.1_Silent_p.S14S NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 14 Breast(68;0.000207)|Prostate(175;0.0107) GTAACAAATCGGCAAATGTTC 0.323000 0 SO:0001819 synonymous_variant ENST00000362006.5 1 1 hg19 CCDS7173.1 TCGA-HZ-A4BK-01A-11D-A26I-08 CCDC7-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047490.1 1 0 1 52 282 0 46 0 0 1 0 0 46 2 0 0 0 0 0 2 1 1.000000 51 279 0 46 2 -2.754154 1 1 0 0 1 0 0 0 2.000691 0 0.320000 1.790000 0.295191 0.930000 0.710000 1.000000 1.000000 0.919019 0.930000 1 8.200000e-01 1 P4HA1 5033 broad.mit.edu 37 10 74813157 74813157 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:74813157C>T ENST00000307116.2 - 6 771 c.655G>A c.(655-657)Gga>Aga p.G219R P4HA1_ENST00000440381.1_Missense_Mutation_p.G219R|P4HA1_ENST00000373008.2_Missense_Mutation_p.G219R|P4HA1_ENST00000412021.2_Missense_Mutation_p.G219R|P4HA1_ENST00000394890.2_Missense_Mutation_p.G219R|P4HA1_ENST00000263556.3_Missense_Mutation_p.G219R P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCCAGGTCTCCCTGCTGATAT 0.398000 Colon(147;367 2405 2662 52127) 0 SO:0001583 missense ENST00000307116.2 1 1 hg19 . . . . . . . . . . C 33 5.226826 0.95173 . . ENSG00000122884 ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381 T;T;T;T;T;T 0.52057 0.7;0.7;0.7;0.7;0.7;0.68 5.83 5.83 0.93111 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.77143 0.4087 M 0.91872 3.25 0.80722 D 1 D;D;D 0.76494 0.999;0.991;0.991 D;D;D 0.76575 0.988;0.953;0.953 T 0.81475 -0.0916 10 0.87932 D 0 -4.2197 20.1224 0.97967 0.0:1.0:0.0:0.0 . 219;219;219 C9JL12;Q5VSQ6;P13674 .;.;P4HA1_HUMAN R 219 ENSP00000307318:G219R;ENSP00000362099:G219R;ENSP00000411688:G219R;ENSP00000378353:G219R;ENSP00000263556:G219R;ENSP00000414464:G219R ENSP00000263556:G219R G - 1 0 P4HA1 74483163 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.468000 0.80943 2.763000 0.94921 0.655000 0.94253 GGA TCGA-HZ-A4BK-01A-11D-A26I-08 P4HA1-001 KNOWN basic protein_coding protein_coding OTTHUMT00000048601.1 1 0 0 47 603 0 68 1 7.157879e-01 4 30 0 68 2 0 0 0 0 0 2 1 1.000000 47 602 0 68 2 -2.690405 1 0 0 0 1 1 2 3 2.081589 0 0.320000 1.790000 0.322169 0.450000 0.330000 0.610000 0.450000 0.465391 0.450000 0 3.900000e-01 5.300000e-01 BMPR1A 657 broad.mit.edu 37 10 88659808 88659808 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:88659808G>A ENST00000372037.3 + 7 992 c.455G>A c.(454-456)cGa>cAa p.R152Q NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 24 GGCAGCATTCGATGGCTGGTT 0.353000 Mis, N, F gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 Ovarian(190;603 2086 22044 30335 47971) yes Rec Juvenile polyposis 10 10q22.3 657 bone morphogenetic protein receptor, type IA E 0 SO:0001583 missense Familial Cancer Database incl.: Juvenile Polyposis of the Stomach;HMPS2 ENST00000372037.3 1 1 hg19 CCDS7378.1 . . . . . . . . . . G 10.63 1.402822 0.25291 . . ENSG00000107779 ENST00000224764;ENST00000372037 D 0.82803 -1.65 4.77 4.77 0.60923 . 0.114590 0.64402 D 0.000014 T 0.69441 0.3111 N 0.22421 0.69 0.44241 D 0.997087 B 0.10296 0.003 B 0.06405 0.002 T 0.62567 -0.6827 10 0.13108 T 0.6 . 11.4089 0.49915 0.0856:0.0:0.9144:0.0 . 152 P36894 BMR1A_HUMAN Q 152 ENSP00000361107:R152Q ENSP00000224764:R152Q R + 2 0 BMPR1A 88649788 1.000000 0.71417 0.992000 0.48379 0.981000 0.71138 5.120000 0.64685 2.574000 0.86865 0.563000 0.77884 CGA TCGA-HZ-A4BK-01A-11D-A26I-08 BMPR1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049170.3 1 0 0 42 507 0 44 0 4.386800e-01 1 18 0 44 2 0 0 0 0 0 2 1 1.000000 42 502 0 45 2 -10.559320 1 1 121412 1 35 1 1 2 3 2.081589 0 0.320000 1.790000 0.322169 0.480000 0.350000 0.650000 0.480000 0.492459 0.480000 0 4.100000e-01 5.600000e-01 MMRN2 79812 broad.mit.edu 37 10 88702455 88702455 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:88702455C>T ENST00000372027.5 - 6 2407 c.2086G>A c.(2086-2088)Ggg>Agg p.G696R MMRN2_ENST00000488950.1_5'Flank NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 19 CGCGCCAGCCCGGCCAGGGCG 0.776000 0 SO:0001583 missense ENST00000372027.5 0 1 hg19 CCDS7379.1 . . . . . . . . . . C 9.413 1.081066 0.20309 . . ENSG00000173269 ENST00000372027;ENST00000443699 T 0.14144 2.53 4.85 -1.39 0.08997 . 1.310930 0.05269 N 0.517137 T 0.11324 0.0276 L 0.56769 1.78 0.09310 N 1 P;P;P 0.49961 0.93;0.645;0.93 B;B;B 0.30716 0.119;0.037;0.09 T 0.46569 -0.9182 10 0.35671 T 0.21 -7.3288 9.3618 0.38201 0.0:0.3617:0.5044:0.1339 . 474;635;696 E7EN39;B4E3H8;Q9H8L6 .;.;MMRN2_HUMAN R 696;474 ENSP00000361097:G696R ENSP00000361097:G696R G - 1 0 MMRN2 88692435 0.000000 0.05858 0.005000 0.12908 0.067000 0.16453 -0.154000 0.10130 0.055000 0.16094 0.305000 0.20034 GGG TCGA-HZ-A4BK-01A-11D-A26I-08 MMRN2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049179.2 1 0 0 9 62 0 8 0 6.375157e-01 0 16 0 8 2 0 0 0 0 0 2 1 0.994557 9 60 0 8 2 -16.452200 1 1 0 0 1 1 2 3 2.081589 0 0.320000 1.790000 0.322169 0.810000 0.410000 1.000000 1.000000 0.796554 0.810000 0 5.800000e-01 1 PAPSS2 9060 broad.mit.edu 37 10 89419767 89419767 + Splice_Site SNP T T C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:89419767T>C ENST00000361175.4 + 1 396 c.e1+2 PAPSS2_ENST00000456849.1_Splice_Site|RP11-57C13.6_ENST00000438082.1_lincRNA|RP11-57C13.3_ENST00000354527.2_RNA|PAPSS2_ENST00000427144.2_5'Flank NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 20 Melanoma(5;0.019)|Colorectal(252;0.123) CAAAAGACGGTAGGCTTCCAG 0.731000 0 SO:0001630 splice_region_variant ENST00000361175.4 0 1 hg19 CCDS7385.1 . . . . . . . . . . T 16.95 3.263517 0.59431 . . ENSG00000198682 ENST00000361175;ENST00000456849 . . . 4.28 4.28 0.50868 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 9.7299 0.40355 0.0:0.0:0.0:1.0 . . . . . -1 . . . + . . PAPSS2 89409747 1.000000 0.71417 1.000000 0.80357 0.884000 0.51177 3.292000 0.51772 1.794000 0.52575 0.379000 0.24179 . TCGA-HZ-A4BK-01A-11D-A26I-08 PAPSS2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049229.1 1 0 0 8 84 0 19 0 0 0 0 19 2 0 0 0 0 0 2 1 0.989525 8 83 0 19 2 -13.595830 1 1 0 0 1 1 2 3 2.081589 0 0.320000 1.790000 0.322169 0.560000 0.270000 1.000000 1.000000 0.588508 0.560000 0 4.000000e-01 7.800000e-01 TUBB8 347688 broad.mit.edu 37 10 94025 94025 + Missense_Mutation SNP T T C rs143154682 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:94025T>C ENST00000309812.4 - 4 369 c.307A>G c.(307-309)Aag>Gag p.K103E TUBB8_ENST00000447903.2_Missense_Mutation_p.K31E|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Silent_p.P66P NM_177987.2 NP_817124.1 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) TAGTGTCCCTTGGCCCAGTTG 0.577000 Pancreas(192;2041 3010 9013 18103) 0 SO:0001583 missense ENST00000309812.4 1 0 hg19 CCDS7051.1 . . . . . . . . . . T 13.76 2.332365 0.41297 . . ENSG00000173876 ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974 T 0.70399 -0.48 . . . Tubulin/FtsZ, GTPase domain (4); 0.078738 0.47455 U 0.000224 D 0.83700 0.5311 H 0.96805 3.885 0.33195 D 0.551322 P;D 0.56968 0.646;0.978 P;P 0.59221 0.621;0.854 T 0.83158 -0.0100 9 0.87932 D 0 . 4.5487 0.12098 0.0:6.0E-4:0.0:0.9994 . 66;103 C9JAA5;Q3ZCM7 .;TBB8_HUMAN E 31;69;66;103 ENSP00000403895:K31E ENSP00000272035:K69E K - 1 0 RP11-631M21.2 84025 1.000000 0.71417 0.357000 0.25798 0.361000 0.29550 5.418000 0.66429 0.103000 0.17682 0.102000 0.15555 AAG TCGA-HZ-A4BK-01A-11D-A26I-08 TUBB8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467795.1 0 0 1 48 164 0 33 0 0 1 0 0 33 2 0 0 0 0 0 2 1 1.000000 38 156 0 35 2 -1.306220 0 1 121412 6340 60 1 0.320000 1.790000 0 0 DSCAML1 57453 broad.mit.edu 37 11 117307888 117307888 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:117307888G>A ENST00000321322.6 - 26 4851 c.4850C>T c.(4849-4851)gCg>gTg p.A1617V DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1347V NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) GCCGCAGCCCGCACTGTTGCA 0.642000 0 SO:0001583 missense ENST00000321322.6 1 1 hg19 CCDS8384.1 . . . . . . . . . . G 18.51 3.639853 0.67244 . . ENSG00000177103 ENST00000527706;ENST00000321322;ENST00000446508 T;T 0.56611 0.45;0.45 4.1 4.1 0.47936 Fibronectin, type III (3);Immunoglobulin-like fold (1); . . . . T 0.73916 0.3648 M 0.82132 2.575 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 T 0.79507 -0.1775 9 0.87932 D 0 . 16.9031 0.86118 0.0:0.0:1.0:0.0 . 1557 Q8TD84 DSCL1_HUMAN V 1347;1617;1324 ENSP00000434335:A1347V;ENSP00000315465:A1617V ENSP00000315465:A1617V A - 2 0 DSCAML1 116813098 1.000000 0.71417 0.952000 0.39060 0.376000 0.30014 7.807000 0.86032 2.286000 0.76751 0.655000 0.94253 GCG TCGA-HZ-A4BK-01A-11D-A26I-08 DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392907.2 0 0 0 32 445 1 106 0 1.994647e-01 0 12 1 106 2 0 0 0 0 0 2 1 0.993304 31 438 1 104 16 -3.318771 1 1 0 0 1 0 1 1 1.964809 0 0.320000 1.790000 0.269759 0.380000 0.270000 0.530000 0.390000 0.398690 0.380000 0 3.200000e-01 4.600000e-01 OR52D1 390066 broad.mit.edu 37 11 5510886 5510886 + Nonsense_Mutation SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:5510886C>A ENST00000322641.5 + 1 972 c.950C>A c.(949-951)tCa>tAa p.S317* HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 p.S317L(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) GGGAAGACTTCAATATGAATG 0.423000 1 Substitution - Missense(1) SO:0001587 stop_gained ENST00000322641.5 0 1 hg19 CCDS31384.1 . . . . . . . . . . C 13.88 2.370450 0.42003 . . ENSG00000181609 ENST00000322641 . . . 4.75 0.744 0.18353 . 1.338280 0.05072 N 0.481801 . . . . . . 0.09310 N 0.999997 . . . . . . . . . . 0.02654 T 1 . 6.3458 0.21349 0.0:0.5709:0.0:0.4291 . . . . X 317 . ENSP00000326232:S317X S + 2 0 OR52D1 5467462 0.001000 0.12720 0.000000 0.03702 0.039000 0.13416 0.659000 0.24994 0.304000 0.22809 0.655000 0.94253 TCA TCGA-HZ-A4BK-01A-11D-A26I-08 OR52D1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000143372.1 1 0 0 24 351 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 1.000000 23 349 0 27 2 -3.221903 1 1 0 0 1 0 1 1 1.963308 0 0.320000 1.790000 0.278438 0.370000 0.240000 0.530000 0.380000 0.387892 0.370000 0 3.000000e-01 4.600000e-01 BEST1 7439 broad.mit.edu 37 11 61719315 61719315 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:61719315C>T ENST00000378043.4 + 2 680 c.37C>T c.(37-39)Cgc>Tgc p.R13C BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R13C|BEST1_ENST00000378042.3_5'UTR NM_004183.3 NP_004174.1 O76090 BEST1_HUMAN bestrophin 1 25 GGCTAATGCCCGCTTAGGCTC 0.572000 0 SO:0001583 missense ENST00000378043.4 1 1 hg19 CCDS31580.1 . . . . . . . . . . C 26.6 4.752660 0.89753 . . ENSG00000167995 ENST00000378043;ENST00000435278 D;D 0.98280 -4.27;-4.84 5.46 5.46 0.80206 . 0.155755 0.44285 U 0.000476 D 0.99202 0.9723 M 0.92367 3.3 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.70487 0.969;0.949 D 0.99289 1.0898 10 0.72032 D 0.01 . 18.9153 0.92503 0.0:1.0:0.0:0.0 . 13;13 B7Z375;O76090 .;BEST1_HUMAN C 13 ENSP00000367282:R13C;ENSP00000408390:R13C ENSP00000367282:R13C R + 1 0 BEST1 61475891 1.000000 0.71417 0.994000 0.49952 0.988000 0.76386 4.891000 0.63185 2.567000 0.86603 0.561000 0.74099 CGC TCGA-HZ-A4BK-01A-11D-A26I-08 BEST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394715.1 1 0 0 42 529 0 90 0 0 0 0 90 2 0 0 0 0 0 2 1 1.000000 39 478 0 82 2 -2.559126 1 1 0 0 1 0 1 1 1.943550 0 0.320000 1.790000 0.273504 0.420000 0.310000 0.560000 0.430000 0.436964 0.420000 0 3.600000e-01 5.000000e-01 DCHS1 8642 broad.mit.edu 37 11 6650981 6650981 + Missense_Mutation SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:6650981C>G ENST00000299441.3 - 11 5368 c.4957G>C c.(4957-4959)Gag>Cag p.E1653Q RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) ACGCTGTACTCCTGCTGCTGG 0.647000 0 SO:0001583 missense ENST00000299441.3 1 1 hg19 CCDS7771.1 . . . . . . . . . . C 6.206 0.406103 0.11754 . . ENSG00000166341 ENST00000299441 T 0.03212 4.01 5.25 5.25 0.73442 Cadherin (2);Cadherin-like (1); 0.136757 0.33144 N 0.005227 T 0.03348 0.0097 N 0.17723 0.515 0.37504 D 0.916866 B 0.22346 0.068 B 0.13407 0.009 T 0.51965 -0.8638 10 0.12766 T 0.61 . 18.0234 0.89261 0.0:1.0:0.0:0.0 . 1653 Q96JQ0 PCD16_HUMAN Q 1653 ENSP00000299441:E1653Q ENSP00000299441:E1653Q E - 1 0 DCHS1 6607557 0.027000 0.19231 1.000000 0.80357 0.045000 0.14185 2.816000 0.48026 2.744000 0.94065 0.563000 0.77884 GAG TCGA-HZ-A4BK-01A-11D-A26I-08 DCHS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257258.1 1 0 1 27 169 0 37 0 5.168233e-01 0 12 0 37 2 0 0 0 0 0 2 1 1.000000 25 167 0 36 2 -20.000000 1 1 0 0 1 0 1 1 1.963308 0 0.320000 1.790000 0.278438 0.800000 0.550000 1.000000 1.000000 0.813103 0.800000 0 6.700000e-01 9.600000e-01 RIMBP2 23504 broad.mit.edu 37 12 130935797 130935797 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:130935797G>A ENST00000261655.4 - 5 559 c.396C>T c.(394-396)tcC>tcT p.S132S RIMBP2_ENST00000536002.1_Silent_p.S40S|RIMBP2_ENST00000535703.1_Silent_p.S40S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 p.S132S(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) TGGGCTTGGCGGACAGAGGCT 0.642000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000261655.4 1 1 hg19 CCDS31925.1 TCGA-HZ-A4BK-01A-11D-A26I-08 RIMBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000399520.1 1 0 1 72 319 0 76 0 0 0 1 0 76 2 0 0 0 0 0 2 1 1.000000 71 314 0 76 2 -3.256130 1 1 121412 3 37 1 0 1 1 2.064127 0 0.320000 1.790000 0.318910 0.990000 0.910000 1.000000 1.000000 0.994680 0.990000 1 9.900000e-01 1 ABCC9 10060 broad.mit.edu 37 12 22025599 22025599 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:22025599C>T ENST00000261201.4 - 16 2157 c.2158G>A c.(2158-2160)Ggt>Agt p.G720S RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G684S|ABCC9_ENST00000261200.4_Missense_Mutation_p.G720S NM_005691.2 NP_005682.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 p.G720C(2) 118 Adenosine triphosphate(DB00171)|Glyburide(DB01016) TGCATCTCACCGAGGATGGCA 0.418000 2 Substitution - Missense(2) SO:0001583 missense ENST00000261201.4 1 1 hg19 CCDS8694.1 . . . . . . . . . . C 35 5.413057 0.96072 . . ENSG00000069431 ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162 D;D;D;D 0.91068 -2.78;-2.78;-2.78;-2.78 5.63 5.63 0.86233 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.000000 0.85682 D 0.000000 D 0.96160 0.8748 M 0.87180 2.865 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.96238 0.9173 10 0.87932 D 0 -13.3901 19.6499 0.95796 0.0:1.0:0.0:0.0 . 720;720 O60706;O60706-2 ABCC9_HUMAN;. S 720;347;720;684 ENSP00000261200:G720S;ENSP00000440521:G347S;ENSP00000261201:G720S;ENSP00000261202:G684S ENSP00000261200:G720S G - 1 0 ABCC9 21916866 1.000000 0.71417 0.917000 0.36280 0.909000 0.53808 7.600000 0.82769 2.814000 0.96858 0.563000 0.77884 GGT TCGA-HZ-A4BK-01A-11D-A26I-08 ABCC9-002 KNOWN not_organism_supported|basic|CCDS protein_coding protein_coding OTTHUMT00000402230.1 1 0 0 65 809 0 133 0 3.107421e-02 0 4 0 133 2 0 0 0 0 0 2 1 1.000000 64 801 0 133 2 -2.578431 1 1 121412 3 41 1 0 0 0 1.875591 1 0.320000 1.790000 0.247788 0.410000 0.320000 0.520000 0.420000 0.424208 0.410000 0 3.600000e-01 4.700000e-01 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-HZ-A4BK-01A-11D-A26I-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 37 81 0 13 1 9.985002e-01 16 10 0 13 2 1 1 193 440 0 476 2 1 1.000000 37 79 0 13 2 -20.000000 1 1 121404 2 44 1 1 3 4 2.509416 1 0.320000 1.790000 0.447334 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 PTPRB 5787 broad.mit.edu 37 12 70965613 70965613 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:70965613C>T ENST00000261266.5 - 10 2472 c.2443G>A c.(2443-2445)Ggg>Agg p.G815R PTPRB_ENST00000334414.6_Missense_Mutation_p.G1033R|PTPRB_ENST00000538708.1_Missense_Mutation_p.G815R|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1032R|PTPRB_ENST00000451516.2_Missense_Mutation_p.G725R|PTPRB_ENST00000550358.1_Missense_Mutation_p.G945R|PTPRB_ENST00000550857.1_Missense_Mutation_p.G725R NM_002837.4 NP_002828.3 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTGTTCTCCCATTCCCTTGT 0.378000 0 SO:0001583 missense ENST00000261266.5 0 1 hg19 CCDS44944.1 . . . . . . . . . . C 18.89 3.719849 0.68844 0.0 2.44E-4 ENSG00000127329 ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122 T;T;T;T;T;T;T;T 0.04862 4.04;4.03;4.01;4.05;4.03;4.08;3.54;3.58 5.96 4.9 0.64082 Fibronectin, type III (1); 0.105396 0.64402 D 0.000004 T 0.21921 0.0528 M 0.75777 2.31 0.48830 D 0.999717 D;D;D;D;D;D;D 0.71674 0.996;0.996;0.963;0.963;0.998;0.996;0.996 D;D;D;P;D;D;D 0.77557 0.99;0.99;0.914;0.884;0.99;0.967;0.976 T 0.01078 -1.1459 10 0.19590 T 0.45 . 14.3289 0.66541 0.0:0.9205:0.0:0.0795 . 725;815;912;1032;1033;815;945 P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56 .;.;.;.;.;PTPRB_HUMAN;. R 1033;725;945;815;725;815;1032;912 ENSP00000334928:G1033R;ENSP00000393028:G725R;ENSP00000448058:G945R;ENSP00000438927:G815R;ENSP00000447302:G725R;ENSP00000261266:G815R;ENSP00000448349:G1032R;ENSP00000446982:G912R ENSP00000261266:G815R G - 1 0 PTPRB 69251880 1.000000 0.71417 0.967000 0.41034 0.981000 0.71138 4.846000 0.62860 2.832000 0.97577 0.655000 0.94253 GGG TCGA-HZ-A4BK-01A-11D-A26I-08 PTPRB-007 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000404439.1 0 0 0 11 387 1 31 0 5.568229e-03 0 4 1 31 2 0 0 0 0 0 2 0 0.000393 11 383 1 31 33 -2.614571 1 1 120838 37 45 1 0 1 1 2.064127 0 0.320000 1.790000 0.318910 0.170000 0.090000 0.290000 0.170000 0.186197 0.170000 0 1.200000e-01 2.400000e-01 N6AMT2 221143 broad.mit.edu 37 13 21311867 21311867 + Silent SNP A A C rs140127205 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr13:21311867A>C ENST00000382758.1 - 3 269 c.222T>G c.(220-222)ggT>ggG p.G74G N6AMT2_ENST00000382754.4_Silent_p.G74G Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 (putative) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) CTCACCTGCCACCTTCTCCTA 0.413000 0 SO:0001819 synonymous_variant ENST00000382758.1 0 0 hg19 CCDS9293.1 TCGA-HZ-A4BK-01A-11D-A26I-08 N6AMT2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044083.1 1 0 1 10 62 0 10 0 4.427470e-01 1 9 0 10 2 0 0 0 0 0 2 1 0.997569 10 62 0 10 2 -8.168176 1 0 121412 1 32 1 0 0 0 1.964807 0 0.320000 1.790000 0.283305 0.820000 0.440000 1.000000 1.000000 0.810502 0.820000 0 6.100000e-01 1 MYH7 4625 broad.mit.edu 37 14 23898246 23898246 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:23898246C>T ENST00000355349.3 - 14 1487 c.1325G>A c.(1324-1326)cGc>cAc p.R442H NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 137 all_cancers(95;2.54e-05) GGCATTGATGCGCGTCACCAT 0.557000 0 GRCh37 CM066922 MYH7 M SO:0001583 missense ENST00000355349.3 1 1 hg19 CCDS9601.1 . . . . . . . . . . c 23.5 4.429693 0.83776 . . ENSG00000092054 ENST00000355349;ENST00000544444 D 0.88741 -2.42 4.18 4.18 0.49190 Myosin head, motor domain (2); . . . . D 0.95513 0.8542 M 0.91920 3.255 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.96729 0.9538 9 0.87932 D 0 . 16.6862 0.85309 0.0:1.0:0.0:0.0 . 442 P12883 MYH7_HUMAN H 442 ENSP00000347507:R442H ENSP00000347507:R442H R - 2 0 MYH7 22968086 0.566000 0.26618 0.974000 0.42286 0.583000 0.36354 5.795000 0.69074 2.166000 0.68216 0.455000 0.32223 CGC TCGA-HZ-A4BK-01A-11D-A26I-08 MYH7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000071798.3 1 0 0 30 479 0 85 0 0 0 0 85 2 0 0 0 0 0 2 1 1.000000 30 472 0 84 2 -2.920770 1 1 121412 2 34 1 1 2 3 2.112338 0 0.320000 1.790000 0.328594 0.370000 0.250000 1.000000 0.370000 0.422203 0.370000 0 3.100000e-01 4.700000e-01 GFER 2671 broad.mit.edu 37 16 2034871 2034871 + Missense_Mutation SNP G G T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:2034871G>T ENST00000248114.6 + 2 388 c.382G>T c.(382-384)Gac>Tac p.D128Y AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_Intron|GFER_ENST00000567719.1_Missense_Mutation_p.D53Y NM_005262.2 NP_005253.3 P55789 ALR_HUMAN growth factor, augmenter of liver regeneration 5 Flavin adenine dinucleotide(DB03147) ACAGCAGCAAGACATGGCCCA 0.567000 0 SO:0001583 missense ENST00000248114.6 1 1 hg19 CCDS32368.1 . . . . . . . . . . G 32 5.125726 0.94429 . . ENSG00000127554 ENST00000248114;ENST00000425414 T 0.64991 -0.13 4.52 4.52 0.55395 Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1); 0.050318 0.85682 D 0.000000 T 0.71264 0.3319 M 0.83483 2.645 0.58432 D 0.999999 P;P 0.46064 0.85;0.872 B;P 0.46237 0.258;0.508 T 0.78881 -0.2029 10 0.87932 D 0 -26.419 16.3969 0.83610 0.0:0.0:1.0:0.0 . 54;128 Q9UQK8;P55789 .;ALR_HUMAN Y 128;48 ENSP00000248114:D128Y ENSP00000248114:D128Y D + 1 0 GFER 1974872 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 9.026000 0.93700 2.330000 0.79161 0.609000 0.83330 GAC TCGA-HZ-A4BK-01A-11D-A26I-08 GFER-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000434243.1 1 0 1 34 420 0 90 1 9.812473e-01 12 68 0 90 2 0 0 0 0 0 2 1 1.000000 34 418 0 89 2 -20.000000 1 1 0 0 1 0 1 1 1.956849 0 0.320000 1.790000 0.272260 0.430000 0.300000 0.590000 0.430000 0.445613 0.430000 0 3.600000e-01 5.100000e-01 CHST4 10164 broad.mit.edu 37 16 71570744 71570744 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:71570744C>T ENST00000338482.5 + 3 507 c.164C>T c.(163-165)tCt>tTt p.S55F RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.S55F|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.S55F Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 21 CGCTCTGGCTCTTCTTTTGTG 0.567000 0 SO:0001583 missense ENST00000338482.5 1 1 hg19 CCDS10902.1 . . . . . . . . . . C 29.4 5.007182 0.93287 . . ENSG00000140835 ENST00000338482;ENST00000539698 D;D 0.84298 -1.83;-1.83 6.0 6.0 0.97389 Sulfotransferase domain (1); 0.000000 0.85682 D 0.000000 D 0.94798 0.8320 H 0.94503 3.545 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.95535 0.8607 10 0.87932 D 0 -16.064 17.9887 0.89162 0.0:1.0:0.0:0.0 . 55 Q8NCG5 CHST4_HUMAN F 55 ENSP00000341206:S55F;ENSP00000441204:S55F ENSP00000341206:S55F S + 2 0 CHST4 70128245 1.000000 0.71417 0.960000 0.40013 0.968000 0.65278 7.794000 0.85869 2.848000 0.98002 0.655000 0.94253 TCT TCGA-HZ-A4BK-01A-11D-A26I-08 CHST4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268992.4 1 0 0 38 471 0 51 1 9.994422e-01 5 135 0 51 2 0 0 0 0 0 2 1 1.000000 38 464 0 51 2 -20.000000 1 1 0 0 1 1 2 3 2.278718 1 0.320000 1.790000 0.384058 0.540000 0.370000 1.000000 0.510000 0.629360 0.540000 0 4.500000e-01 1 KRT37 8688 broad.mit.edu 37 17 39577780 39577780 + Silent SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:39577780G>C ENST00000225550.3 - 6 1079 c.1080C>G c.(1078-1080)gcC>gcG p.A360A AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 25 Breast(137;0.000496) TCTGCATCTGGGCCAGCTCTG 0.572000 0 SO:0001819 synonymous_variant ENST00000225550.3 1 1 hg19 CCDS32653.1 TCGA-HZ-A4BK-01A-11D-A26I-08 KRT37-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257714.2 1 0 1 40 190 0 32 0 0 0 0 32 2 0 0 0 0 0 2 1 1.000000 39 190 0 30 2 -3.226081 1 1 0 0 1 0 1 1 1.953449 0 0.320000 1.790000 0.265976 0.990000 0.740000 1.000000 1.000000 0.948601 0.990000 1 8.600000e-01 1 DHX8 1659 broad.mit.edu 37 17 41566830 41566830 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:41566830C>T ENST00000262415.3 + 2 234 c.162C>T c.(160-162)atC>atT p.I54I DHX8_ENST00000540306.1_Silent_p.I54I NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 42 Breast(137;0.00908) AATTTGTGATCAGTCTTGCTG 0.333000 NSCLC(56;1548 1661 49258 49987) 0 SO:0001819 synonymous_variant ENST00000262415.3 1 1 hg19 CCDS11464.1 TCGA-HZ-A4BK-01A-11D-A26I-08 DHX8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453485.1 1 0 1 55 425 0 33 1 9.943996e-01 34 29 0 33 2 0 0 0 0 0 2 1 1.000000 55 418 0 33 2 -19.649920 1 1 0 0 1 1 2 3 2.297785 1 0.320000 1.790000 0.390244 0.820000 0.620000 1.000000 0.790000 0.843197 0.820000 0 7.100000e-01 1 PLEKHM1 9842 broad.mit.edu 37 17 43531559 43531559 + Silent SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:43531559G>C ENST00000430334.3 - 7 1792 c.1659C>G c.(1657-1659)ctC>ctG p.L553L PLEKHM1_ENST00000421073.2_Silent_p.L464L|AC091132.1_ENST00000433601.1_RNA NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 26 Renal(3;0.0405) GCTCGCAGAAGAGCTCCTTCC 0.627000 0 SO:0001819 synonymous_variant ENST00000430334.3 1 1 hg19 CCDS32671.1 TCGA-HZ-A4BK-01A-11D-A26I-08 PLEKHM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000444659.1 1 0 1 25 99 0 21 1 9.977731e-01 13 28 0 21 2 0 0 0 0 0 2 1 1.000000 25 97 0 21 2 -20.000000 1 1 0 0 1 0 1 1 1.958797 0 0.320000 1.790000 0.288107 0.990000 0.810000 1.000000 1.000000 0.984408 0.990000 1 9.900000e-01 1 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T rs28934874 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 G T G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:7578479G>T ENST00000269305.4 - 5 640 c.451C>A c.(451-453)Ccc>Acc p.P151T TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000420246.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CCGGGCGGGGGTGTGGAATCA 0.612000 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) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 156 Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5) GRCh37 CM012662|CM941326 TP53 M rs28934874 SO:0001583 missense Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . G 16.48 3.136405 0.56936 . . ENSG00000141510 ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793 D;D;D;D;D;D;D;D;D 0.99884 -7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49 5.59 5.59 0.84812 p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1); 0.110207 0.64402 D 0.000007 D 0.99894 0.9949 M 0.87038 2.855 0.54753 D 0.999983 D;P;D;D;P;P;D 0.89917 0.999;0.711;0.994;0.982;0.882;0.755;1.0 D;P;D;D;P;P;D 0.97110 0.981;0.749;0.961;0.954;0.736;0.837;1.0 D 0.96419 0.9310 10 0.87932 D 0 -14.1156 17.4784 0.87667 0.0:0.0:1.0:0.0 rs28934874 112;151;151;58;151;151;151 B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7 .;.;.;.;P53_HUMAN;.;. T 151;151;151;151;151;151;140;58;19;58;19;151 ENSP00000410739:P151T;ENSP00000352610:P151T;ENSP00000269305:P151T;ENSP00000398846:P151T;ENSP00000391127:P151T;ENSP00000391478:P151T;ENSP00000425104:P19T;ENSP00000423862:P58T;ENSP00000424104:P151T ENSP00000269305:P151T P - 1 0 TP53 7519204 1.000000 0.71417 0.971000 0.41717 0.067000 0.16453 7.823000 0.86660 2.804000 0.96469 0.655000 0.94253 CCC TCGA-HZ-A4BK-01A-11D-A26I-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 45 222 0 62 1 9.998693e-01 31 38 0 62 2 1 1 282 1097 1 1746 5 1 1.000000 44 216 0 62 2 -19.999960 1 1 0 0 1 0 1 1 1.793607 1 0.320000 1.790000 0.193548 0.850000 0.650000 1.000000 1.000000 0.856571 0.850000 1 7.500000e-01 9.600000e-01 ZSWIM4 65249 broad.mit.edu 37 19 13915898 13915898 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:13915898G>A ENST00000254323.2 + 3 837 c.648G>A c.(646-648)ctG>ctA p.L216L ZSWIM4_ENST00000440752.2_5'UTR NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CTGAGGTGCTGCCCACTGCTC 0.622000 OREG0025298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001819 synonymous_variant ENST00000254323.2 1 1 hg19 CCDS32924.1 TCGA-HZ-A4BK-01A-11D-A26I-08 ZSWIM4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457457.1 1 0 1 36 186 0 51 1 7.260347e-01 5 10 0 51 2 0 0 0 0 0 2 1 1.000000 36 186 0 49 2 -20.000000 1 1 0 0 1 0 0 0 2.052404 0 0.320000 1.790000 0.315620 0.990000 0.720000 1.000000 1.000000 0.947141 0.990000 1 8.500000e-01 1 PKN1 5585 broad.mit.edu 37 19 14581423 14581423 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:14581423G>A ENST00000242783.6 + 20 2638 c.2473G>A c.(2473-2475)Gac>Aac p.D825N PKN1_ENST00000342216.4_Missense_Mutation_p.D831N NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 31 GGAGGTCTTCGACAGCATCGT 0.672000 NSCLC(185;2539 2965 10733 52867) 0 SO:0001583 missense ENST00000242783.6 0 1 hg19 CCDS42513.1 . . . . . . . . . . G 23.2 4.392493 0.83011 . . ENSG00000123143 ENST00000242783;ENST00000342216 T;T 0.53206 0.63;0.63 4.18 4.18 0.49190 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.64402 U 0.000001 T 0.55194 0.1905 N 0.25992 0.78 0.47276 D 0.999378 D;D 0.89917 1.0;1.0 D;D 0.87578 0.997;0.998 T 0.60757 -0.7200 10 0.87932 D 0 -20.007 14.0135 0.64511 0.0:0.0:1.0:0.0 . 831;825 Q16512-2;Q16512 .;PKN1_HUMAN N 825;831 ENSP00000242783:D825N;ENSP00000343325:D831N ENSP00000242783:D825N D + 1 0 PKN1 14442423 1.000000 0.71417 0.977000 0.42913 0.569000 0.35902 9.037000 0.93765 2.177000 0.69029 0.555000 0.69702 GAC TCGA-HZ-A4BK-01A-11D-A26I-08 PKN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095510.1 1 0 0 8 80 0 17 1 9.999999e-01 32 567 0 17 2 0 0 0 0 0 2 1 0.990495 8 80 0 17 2 -13.536980 1 1 0 0 1 0 0 0 2.052404 0 0.320000 1.790000 0.315620 0.580000 0.280000 0.990000 1.000000 0.602676 0.580000 0 4.100000e-01 7.900000e-01 ZNF681 148213 broad.mit.edu 37 19 23927097 23927097 + Missense_Mutation SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:23927097C>G ENST00000402377.3 - 4 1396 c.1255G>C c.(1255-1257)Gaa>Caa p.E419Q ZNF681_ENST00000395385.3_Missense_Mutation_p.E350Q NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TAGGGTTTTTCTCCAGTATGA 0.368000 0 SO:0001583 missense ENST00000402377.3 1 1 hg19 CCDS12414.2 . . . . . . . . . . . 10.28 1.307625 0.23821 . . ENSG00000196172 ENST00000402377;ENST00000395385 T;T 0.25912 1.77;1.77 1.51 1.51 0.23008 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.42988 0.1227 L 0.56769 1.78 0.23820 N 0.996755 D 0.89917 1.0 D 0.83275 0.996 T 0.11916 -1.0568 9 0.66056 D 0.02 . 8.4797 0.33034 0.0:1.0:0.0:0.0 . 419 Q96N22 ZN681_HUMAN Q 419;350 ENSP00000384000:E419Q;ENSP00000378783:E350Q ENSP00000378783:E350Q E - 1 0 ZNF681 23718937 0.277000 0.24220 0.053000 0.19242 0.038000 0.13279 2.609000 0.46317 0.798000 0.33994 0.313000 0.20887 GAA TCGA-HZ-A4BK-01A-11D-A26I-08 ZNF681-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320248.2 1 0 0 17 276 0 26 0 0 0 1 0 26 2 0 0 0 0 0 2 1 0.999967 17 274 0 26 2 -19.547280 1 1 0 0 1 0 0 0 2.052404 0 0.320000 1.790000 0.315620 0.360000 0.220000 0.550000 0.360000 0.376120 0.360000 0 2.800000e-01 4.600000e-01 PSG7 5676 broad.mit.edu 37 19 43430713 43430713 + RNA SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:43430713G>A ENST00000406070.2 - 0 961 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) Prostate(69;0.00682) TTTTCAATGCGTCGCTTTACC 0.493000 0 ENST00000406070.2 1 1 hg19 TCGA-HZ-A4BK-01A-11D-A26I-08 PSG7-001 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000321431.2 0 0 0 162 1944 0 286 0 0 0 0 286 2 0 0 0 0 0 2 1 1.000000 122 1517 0 286 2 -20.000000 1 1 0 0 1 2 2 4 2.170201 0 0.320000 1.790000 0.353120 0.500000 0.420000 1.000000 0.510000 0.569502 0.500000 0 4.600000e-01 5.800000e-01 COL11A1 1301 broad.mit.edu 37 1 103453235 103453235 + Missense_Mutation SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:103453235G>C ENST00000370096.3 - 30 2768 c.2456C>G c.(2455-2457)gCa>gGa p.A819G COL11A1_ENST00000512756.1_Missense_Mutation_p.A703G|COL11A1_ENST00000358392.2_Missense_Mutation_p.A831G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A780G NM_001854.3 NP_001845.3 P12107 COBA1_HUMAN collagen, type XI, alpha 1 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) AGTTGGGCCTGCTCGACCTTT 0.473000 0 SO:0001583 missense ENST00000370096.3 1 1 hg19 CCDS778.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 11.34|11.34 1.608907|1.608907 0.28623|0.28623 .|. .|. ENSG00000060718|ENSG00000060718 ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756|ENST00000370090 D;D;D;D|. 0.83755|. -1.76;-1.76;-1.76;-1.76|. 4.39|4.39 4.39|4.39 0.52855|0.52855 .|. 0.140030|. 0.47455|. D|. 0.000236|. T|T 0.37758|0.37758 0.1015|0.1015 N|N 0.25332|0.25332 0.735|0.735 0.48511|0.48511 D|D 0.999661|0.999661 B;B;B;B|B 0.25441|0.13145 0.126;0.073;0.073;0.043|0.007 B;B;B;B|B 0.28784|0.14023 0.094;0.088;0.088;0.04|0.01 T|T 0.24261|0.24261 -1.0165|-1.0165 10|8 0.22706|0.39692 T|T 0.39|0.17 .|. 17.507|17.507 0.87748|0.87748 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 703;780;831;819|34 E9PCU0;P12107-3;P12107-2;P12107|F5H5Z5 .;.;.;COBA1_HUMAN|. G|E 819;831;780;703|34 ENSP00000359114:A819G;ENSP00000351163:A831G;ENSP00000302551:A780G;ENSP00000426533:A703G|. ENSP00000302551:A780G|ENSP00000359108:Q34E A|Q -|- 2|1 0|0 COL11A1|COL11A1 103225823|103225823 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.751000|0.751000 0.42716|0.42716 7.157000|7.157000 0.77461|0.77461 2.417000|2.417000 0.82017|0.82017 0.460000|0.460000 0.39030|0.39030 GCA|CAG TCGA-HZ-A4BK-01A-11D-A26I-08 COL11A1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000029997.1 1 0 0 26 353 0 57 0 6.270098e-01 0 30 0 57 2 0 0 0 0 0 2 1 1.000000 26 347 0 56 2 -3.142687 1 1 121392 1 30 1 1 2 3 2.108766 0 0.320000 1.790000 0.327532 0.440000 0.290000 1.000000 0.430000 0.476370 0.440000 0 3.600000e-01 5.500000e-01 NTNG1 22854 broad.mit.edu 37 1 108023321 108023321 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:108023321G>A ENST00000370068.1 + 8 2325 c.1479G>A c.(1477-1479)acG>acA p.T493T NTNG1_ENST00000370070.2_Silent_p.T414T|NTNG1_ENST00000542803.1_Silent_p.T493T|NTNG1_ENST00000370073.2_Silent_p.T493T|NTNG1_ENST00000370066.1_Silent_p.T434T|NTNG1_ENST00000370074.4_Silent_p.T392T|NTNG1_ENST00000370065.1_Silent_p.T448T|NTNG1_ENST00000370072.3_Silent_p.T448T|NTNG1_ENST00000370067.1_Silent_p.T414T|NTNG1_ENST00000370061.3_Silent_p.T459T|NTNG1_ENST00000370071.2_Silent_p.T434T Q9Y2I2 NTNG1_HUMAN netrin G1 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) CCGCATACACGGGCATCCTCT 0.687000 0 SO:0001819 synonymous_variant ENST00000370068.1 1 1 hg19 CCDS44180.1 TCGA-HZ-A4BK-01A-11D-A26I-08 NTNG1-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000030340.1 1 0 0 9 136 0 26 0 0 0 1 0 26 2 0 0 0 0 0 2 1 0.994688 9 136 0 25 2 -2.750477 1 1 121328 1 31 1 1 2 3 2.108766 0 0.320000 1.790000 0.327532 0.410000 0.200000 1.000000 0.390000 0.455991 0.410000 0 2.900000e-01 5.900000e-01 PTCHD2 57540 broad.mit.edu 37 1 11595630 11595630 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:11595630G>A ENST00000294484.6 + 20 3883 c.3745G>A c.(3745-3747)Gtg>Atg p.V1249M PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) TGGCTCCTCCGTGGATTACTG 0.647000 0 SO:0001583 missense ENST00000294484.6 1 1 hg19 CCDS41247.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 18.12|18.12 3.552516|3.552516 0.65425|0.65425 .|. .|. ENSG00000204624|ENSG00000204624 ENST00000304391|ENST00000294484;ENST00000389575 .|D;D .|0.94457 .|-3.43;-2.84 5.54|5.54 5.54|5.54 0.83059|0.83059 .|Membrane transport protein, MMPL type (1); .|0.000000 .|0.64402 .|D .|0.000003 D|D 0.97334|0.97334 0.9128|0.9128 M|M 0.81802|0.81802 2.56|2.56 0.48185|0.48185 D|D 0.999605|0.999605 .|D .|0.89917 .|1.0 .|D .|0.91635 .|0.999 D|D 0.97740|0.97740 1.0208|1.0208 6|10 0.87932|0.72032 D|D 0|0.01 -24.6787|-24.6787 18.4583|18.4583 0.90729|0.90729 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|1249 .|Q9P2K9 .|PTHD2_HUMAN H|M 135|1249 .|ENSP00000294484:V1249M;ENSP00000374226:V1249M ENSP00000303400:R135H|ENSP00000294484:V1249M R|V +|+ 2|1 0|0 PTCHD2|PTCHD2 11518217|11518217 1.000000|1.000000 0.71417|0.71417 0.999000|0.999000 0.59377|0.59377 0.766000|0.766000 0.43426|0.43426 7.578000|7.578000 0.82498|0.82498 2.604000|2.604000 0.88044|0.88044 0.655000|0.655000 0.94253|0.94253 CGT|GTG TCGA-HZ-A4BK-01A-11D-A26I-08 PTCHD2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000005770.2 1 0 0 30 396 0 76 0 0 0 0 76 2 0 0 0 0 0 2 1 1.000000 30 390 0 76 2 -20.000000 1 1 0 0 1 0 1 1 1.957420 0 0.320000 1.790000 0.260870 0.400000 0.270000 0.550000 0.400000 0.413711 0.400000 0 3.300000e-01 4.800000e-01 CPSF3L 54973 broad.mit.edu 37 1 1254756 1254756 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:1254756C>T ENST00000435064.1 - 4 431 c.349G>A c.(349-351)Gag>Aag p.E117K CPSF3L_ENST00000540437.1_Missense_Mutation_p.E123K|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E117K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E88K|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000462432.1_5'Flank|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000419704.1_Intron|RP5-890O3.9_ENST00000444968.1_RNA NM_001256460.1|NM_017871.5 NP_001243389.1|NP_060341.2 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) AAGTTGGCCTCGCCCTTCTTG 0.597000 0 SO:0001583 missense ENST00000435064.1 1 1 hg19 CCDS21.1 . . . . . . . . . . C 23.1 4.371699 0.82573 . . ENSG00000127054 ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345 T;T;T;T;T;T;T;T 0.48836 0.8;0.8;0.8;0.85;0.8;0.87;0.86;0.8 4.61 4.61 0.57282 Beta-lactamase-like (2); 0.112509 0.64402 D 0.000012 T 0.56804 0.2010 L 0.55017 1.72 0.80722 D 1 P;D;P;P 0.64830 0.541;0.994;0.541;0.596 B;P;B;B 0.62491 0.197;0.903;0.197;0.201 T 0.53165 -0.8477 10 0.02654 T 1 -40.1331 17.6427 0.88141 0.0:1.0:0.0:0.0 . 117;136;123;117 Q5TA45-3;Q5TA51;G3V1S5;Q5TA45 .;.;.;INT11_HUMAN K 117;129;123;117;88;117;123;164;118 ENSP00000413493:E117K;ENSP00000445001:E123K;ENSP00000392848:E117K;ENSP00000444672:E88K;ENSP00000411233:E117K;ENSP00000436743:E123K;ENSP00000432009:E164K;ENSP00000435772:E118K ENSP00000294579:E129K E - 1 0 CPSF3L 1244619 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.580000 0.82523 2.399000 0.81585 0.561000 0.74099 GAG TCGA-HZ-A4BK-01A-11D-A26I-08 CPSF3L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000009360.2 1 0 1 204 877 0 188 1 1 40 99 0 188 2 0 0 0 0 0 2 1 1.000000 202 873 0 188 2 -3.105670 1 1 121406 1 15 1 0 1 1 1.995128 0 0.320000 1.790000 0.286913 0.990000 0.980000 1.000000 1.000000 0.999070 0.990000 1 9.900000e-01 1 PI4KB 5298 broad.mit.edu 37 1 151288137 151288137 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:151288137C>T ENST00000368873.1 - 2 989 c.821G>A c.(820-822)cGc>cAc p.R274H PI4KB_ENST00000271657.5_Missense_Mutation_p.R286H|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274H|PI4KB_ENST00000368875.2_Missense_Mutation_p.R286H|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274H Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGACTTAGAGCGCTGGTGAGT 0.547000 Colon(154;765 1838 9854 28443 37492) 0 SO:0001583 missense ENST00000368873.1 1 1 hg19 . . . . . . . . . . C 26.6 4.755904 0.89843 . . ENSG00000143393 ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243 T;T;T;T;T;T 0.72282 -0.64;-0.64;-0.64;-0.64;-0.64;-0.64 5.11 5.11 0.69529 . 0.000000 0.85682 D 0.000000 T 0.81049 0.4742 M 0.71036 2.16 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.998;0.994;1.0 T 0.82548 -0.0402 10 0.72032 D 0.01 -14.1955 17.2599 0.87067 0.0:1.0:0.0:0.0 . 274;274;274 E9PIH4;Q9UBF8;Q9UBF8-2 .;PI4KB_HUMAN;. H 274;286;286;274;274;274 ENSP00000357868:R274H;ENSP00000357869:R286H;ENSP00000271657:R286H;ENSP00000357867:R274H;ENSP00000357866:R274H;ENSP00000394719:R274H ENSP00000271657:R286H R - 2 0 PI4KB 149554761 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 7.567000 0.82357 2.654000 0.90174 0.561000 0.74099 CGC TCGA-HZ-A4BK-01A-11D-A26I-08 PI4KB-002 KNOWN basic protein_coding protein_coding OTTHUMT00000034400.3 1 0 1 35 386 0 58 1 9.840119e-01 8 66 0 58 2 0 0 0 0 0 2 1 1.000000 35 379 0 58 2 -10.206590 1 1 121412 1 32 1 1 2 3 2.076026 0 0.320000 1.790000 0.321086 0.520000 0.370000 0.710000 0.520000 0.530096 0.520000 0 4.400000e-01 6.100000e-01 RORC 6097 broad.mit.edu 37 1 151789160 151789160 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:151789160G>A ENST00000318247.6 - 4 385 c.278C>T c.(277-279)gCg>gTg p.A93V RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.A147V|RORC_ENST00000356728.6_Missense_Mutation_p.A72V NM_005060.3 NP_005051.2 P51449 RORG_HUMAN RAR-related orphan receptor C 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CATGCCCAGCGCCAGGCATTT 0.647000 0 SO:0001583 missense ENST00000318247.6 0 1 hg19 CCDS1004.1 . . . . . . . . . . G 35 5.486069 0.96323 . . ENSG00000143365 ENST00000356728;ENST00000392697;ENST00000318247 D;D;D 0.97378 -4.36;-4.36;-4.36 5.24 5.24 0.73138 Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4); 0.174286 0.35235 U 0.003342 D 0.98150 0.9389 M 0.78223 2.4 0.80722 D 1 D;D;D;D 0.89917 1.0;0.996;1.0;1.0 D;D;D;D 0.75484 0.972;0.933;0.981;0.986 D 0.99342 1.0912 10 0.87932 D 0 . 16.3321 0.83039 0.0:0.0:1.0:0.0 . 93;147;93;72 B6ZGS6;B4DPR1;P51449;F1D8P6 .;.;RORG_HUMAN;. V 72;147;93 ENSP00000349164:A72V;ENSP00000376461:A147V;ENSP00000327025:A93V ENSP00000327025:A93V A - 2 0 RORC 150055784 1.000000 0.71417 0.949000 0.38748 0.988000 0.76386 4.057000 0.57455 2.436000 0.82500 0.563000 0.77884 GCG TCGA-HZ-A4BK-01A-11D-A26I-08 RORC-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000036626.1 1 0 1 14 50 0 10 1 9.152741e-01 4 14 0 10 2 0 0 0 0 0 2 1 0.999835 14 48 0 10 2 -20.000000 1 1 121370 2 21 1 1 2 3 2.076026 0 0.320000 1.790000 0.321086 0.990000 0.810000 1.000000 1.000000 0.987193 0.990000 1 9.900000e-01 1 F5 2153 broad.mit.edu 37 1 169528443 169528443 + Missense_Mutation SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:169528443C>A ENST00000367797.3 - 5 879 c.678G>T c.(676-678)caG>caT p.Q226H F5_ENST00000367796.3_Missense_Mutation_p.Q226H|F5_ENST00000546081.1_Missense_Mutation_p.Q89H NM_000130.4 NP_000121 P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 128 all_hematologic(923;0.208) ART-123(DB05777)|Drotrecogin alfa(DB00055) GGGATGATGACTGGCTCCAGC 0.433000 0 SO:0001583 missense ENST00000367797.3 1 1 hg19 CCDS1281.1 . . . . . . . . . . C 12.34 1.909285 0.33721 . . ENSG00000198734 ENST00000367797;ENST00000367796;ENST00000546081 D;D;D 0.99758 -6.65;-6.65;-6.65 5.95 -2.03 0.07365 Cupredoxin (2); 1.478620 0.03581 N 0.230089 D 0.98128 0.9382 M 0.72118 2.19 0.32970 D 0.522265 P 0.38642 0.641 B 0.38500 0.275 D 0.99973 1.2094 9 0.41790 T 0.15 0.4292 0.4687 0.00528 0.2015:0.285:0.1978:0.3157 . 226 P12259 FA5_HUMAN H 226;226;89 ENSP00000356771:Q226H;ENSP00000356770:Q226H;ENSP00000439664:Q89H ENSP00000356770:Q226H Q - 3 2 F5 167795067 0.000000 0.05858 0.010000 0.14722 0.944000 0.59088 -0.983000 0.03759 -0.366000 0.08064 0.650000 0.86243 CAG TCGA-HZ-A4BK-01A-11D-A26I-08 F5-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000083712.1 1 0 1 77 429 0 57 1 5.192964e-01 7 4 0 57 2 0 0 0 0 0 2 1 1.000000 77 425 0 57 2 -20.000000 1 1 0 0 1 1 2 3 2.092050 0 0.320000 1.790000 0.325397 0.960000 0.770000 1.000000 1.000000 0.940918 0.960000 1 8.600000e-01 1 RYR2 6262 broad.mit.edu 37 1 237632473 237632473 + Missense_Mutation SNP T T C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:237632473T>C ENST00000366574.2 + 17 2011 c.1694T>C c.(1693-1695)cTg>cCg p.L565P MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000542537.1_Missense_Mutation_p.L549P|RYR2_ENST00000360064.6_Missense_Mutation_p.L563P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGGAAAGACTGGAAGCTTCT 0.358000 0 SO:0001583 missense ENST00000366574.2 1 1 hg19 CCDS55691.1 . . . . . . . . . . T 16.94 3.260538 0.59431 . . ENSG00000198626 ENST00000366574;ENST00000360064;ENST00000542537 D;D;D 0.95788 -3.81;-3.81;-3.81 5.14 5.14 0.70334 Intracellular calcium-release channel (1); 0.000000 0.46145 U 0.000314 D 0.96574 0.8882 M 0.63169 1.94 0.80722 D 1 D 0.71674 0.998 D 0.66351 0.943 D 0.96379 0.9280 10 0.51188 T 0.08 . 12.4837 0.55859 0.0:0.0:0.0:1.0 . 565 Q92736 RYR2_HUMAN P 565;563;549 ENSP00000355533:L565P;ENSP00000353174:L563P;ENSP00000443798:L549P ENSP00000353174:L563P L + 2 0 RYR2 235699096 1.000000 0.71417 1.000000 0.80357 0.961000 0.63080 7.165000 0.77544 1.937000 0.56155 0.460000 0.39030 CTG TCGA-HZ-A4BK-01A-11D-A26I-08 RYR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095402.2 1 0 1 42 247 0 23 0 0 0 0 23 2 0 0 0 0 0 2 1 1.000000 42 245 0 23 2 -20.000000 1 0 0 0 1 1 2 3 2.084706 0 0.320000 1.790000 0.322169 0.910000 0.670000 1.000000 1.000000 0.898701 0.910000 1 7.800000e-01 1 OR2G3 81469 broad.mit.edu 37 1 247769183 247769183 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:247769183C>T ENST00000320002.2 + 1 328 c.296C>T c.(295-297)gCg>gTg p.A99V RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 p.A99G(1) 50 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGTTGTGTGGCGCAACTCTAT 0.483000 1 Substitution - Missense(1) SO:0001583 missense ENST00000320002.2 1 1 hg19 CCDS31093.1 . . . . . . . . . . C 0.006 -2.048532 0.00394 . . ENSG00000177476 ENST00000320002 T 0.00940 5.52 3.8 2.66 0.31614 GPCR, rhodopsin-like superfamily (1); 0.891435 0.08964 N 0.868207 T 0.00666 0.0022 N 0.16567 0.415 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.46034 -0.9220 10 0.02654 T 1 . 5.2568 0.15552 0.0:0.2412:0.0:0.7588 . 99 Q8NGZ4 OR2G3_HUMAN V 99 ENSP00000326301:A99V ENSP00000326301:A99V A + 2 0 OR2G3 245835806 0.000000 0.05858 0.001000 0.08648 0.082000 0.17680 -1.891000 0.01611 0.643000 0.30638 -0.468000 0.05107 GCG TCGA-HZ-A4BK-01A-11D-A26I-08 OR2G3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097624.1 1 0 0 121 1239 0 181 0 0 0 0 181 2 0 0 0 0 0 2 1 1.000000 120 1229 0 180 2 -20.000000 1 1 121412 23 47 1 1 2 3 2.084706 0 0.320000 1.790000 0.322169 0.550000 0.460000 0.670000 0.560000 0.565065 0.550000 0 5.000000e-01 6.100000e-01 MEGF6 1953 broad.mit.edu 37 1 3422767 3422767 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:3422767C>T ENST00000356575.4 - 15 2049 c.1823G>A c.(1822-1824)cGc>cAc p.R608H MEGF6_ENST00000294599.4_Missense_Mutation_p.R503H NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) GCATTTCTTGCGACAGTGCTT 0.657000 Ovarian(73;978 3658) 0 SO:0001583 missense ENST00000356575.4 0 1 hg19 CCDS41237.1 . . . . . . . . . . c 10.97 1.502390 0.26949 . . ENSG00000162591 ENST00000294599;ENST00000356575 T;T 0.67698 -0.28;-0.28 3.77 -3.8 0.04307 Epidermal growth factor-like, type 3 (1); 0.438446 0.22220 N 0.062976 T 0.44393 0.1291 N 0.26042 0.785 0.20307 N 0.999918 B;B 0.17268 0.013;0.021 B;B 0.19148 0.024;0.008 T 0.17440 -1.0369 10 0.45353 T 0.12 -11.2415 6.3048 0.21133 0.0:0.3423:0.1325:0.5252 . 608;503 O75095;O75095-2 MEGF6_HUMAN;. H 503;608 ENSP00000294599:R503H;ENSP00000348982:R608H ENSP00000294599:R503H R - 2 0 MEGF6 3412627 0.045000 0.20229 0.141000 0.22245 0.901000 0.52897 0.333000 0.19768 -0.858000 0.04110 -0.494000 0.04653 CGC TCGA-HZ-A4BK-01A-11D-A26I-08 MEGF6-007 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000354866.1 1 0 0 6 57 0 14 1 9.640186e-01 2 59 0 14 2 0 0 0 0 0 2 1 0.965808 6 56 0 14 2 -5.738573 1 1 120060 4 38 1 0 1 1 1.995128 0 0.320000 1.790000 0.286913 0.580000 0.250000 1.000000 1.000000 0.610241 0.580000 0 3.900000e-01 8.200000e-01 SULF2 55959 broad.mit.edu 37 20 46295174 46295174 + Silent SNP G G A rs115495231 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:46295174G>A ENST00000359930.4 - 12 2486 c.1635C>T c.(1633-1635)gaC>gaT p.D545D SULF2_ENST00000361612.4_Silent_p.D545D|SULF2_ENST00000467815.1_Silent_p.D545D|SULF2_ENST00000484875.1_Silent_p.D545D NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 54 ACACCCTGCCGTCCACCTCGA 0.622000 0 SO:0001819 synonymous_variant ENST00000359930.4 1 0 hg19 CCDS13408.1 TCGA-HZ-A4BK-01A-11D-A26I-08 SULF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000079606.1 1 0 1 79 558 0 102 1 1 43 182 0 102 2 0 0 0 0 0 2 1 1.000000 78 548 0 102 2 -9.043663 1 1 121408 207 56 1 2 2 4 2.267356 1 0.320000 1.790000 0.381368 0.880000 0.690000 1.000000 1.000000 0.885041 0.880000 1 7.700000e-01 1 ZDBF2 57683 broad.mit.edu 37 2 207170979 207170979 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:207170979C>T ENST00000374423.3 + 5 2113 c.1727C>T c.(1726-1728)tCg>tTg p.S576L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 95 AACTATGGATCGAGTTGTTCT 0.438000 0 SO:0001583 missense ENST00000374423.3 0 1 hg19 CCDS46501.1 . . . . . . . . . . C 23.2 4.389908 0.82902 . . ENSG00000204186 ENST00000374423 T 0.45668 0.89 4.33 4.33 0.51752 . 0.000000 0.35805 N 0.002961 T 0.55529 0.1926 L 0.55481 1.735 0.09310 N 1 D 0.76494 0.999 D 0.64506 0.926 T 0.47262 -0.9131 10 0.72032 D 0.01 . 12.6441 0.56725 0.0:1.0:0.0:0.0 . 576 Q9HCK1 ZDBF2_HUMAN L 576 ENSP00000363545:S576L ENSP00000363545:S576L S + 2 0 ZDBF2 206879224 0.382000 0.25148 0.012000 0.15200 0.605000 0.37080 1.691000 0.37721 2.694000 0.91930 0.650000 0.86243 TCG TCGA-HZ-A4BK-01A-11D-A26I-08 ZDBF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336458.1 1 0 0 16 186 0 16 0 0 0 1 0 16 2 0 0 0 0 0 2 1 0.999940 16 184 0 16 2 -7.128712 1 1 120816 2 27 1 1 2 3 2.071067 0 0.320000 1.790000 0.321086 0.500000 0.300000 0.770000 0.490000 0.516214 0.500000 0 3.900000e-01 6.300000e-01 DYSF 8291 broad.mit.edu 37 2 71896785 71896785 + Missense_Mutation SNP G G A rs143939123 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:71896785G>A ENST00000258104.3 + 50 5853 c.5576G>A c.(5575-5577)cGt>cAt p.R1859H DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin p.R1859H(1) 111 GTGCATTATCGTTCCCTGGGA 0.438000 1 Substitution - Missense(1) SO:0001583 missense ENST00000258104.3 1 1 hg19 CCDS1918.1 . . . . . . . . . . G 27.4 4.831448 0.91036 0.0 1.16E-4 ENSG00000135636 ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041 D;D;D;D;D;D;D;D;D;D;D 0.90900 -2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75 4.87 4.87 0.63330 C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1); 0.098372 0.64402 D 0.000003 D 0.95294 0.8473 M 0.84433 2.695 0.52099 D 0.999946 D;D;D;D;D;D;D;D;D;D;D;P;D;D;D 0.89917 0.999;0.999;0.999;0.996;0.996;1.0;1.0;1.0;0.977;0.999;0.973;0.614;0.996;0.996;0.999 D;P;D;P;P;D;D;D;P;D;P;B;P;P;D 0.72338 0.967;0.897;0.91;0.897;0.852;0.977;0.977;0.977;0.476;0.938;0.606;0.228;0.897;0.897;0.938 D 0.94569 0.7769 10 0.40728 T 0.16 -26.1585 15.8904 0.79293 0.0:0.0:1.0:0.0 . 623;1891;1898;1881;1846;1877;1867;1876;1866;1890;1897;1880;1845;1860;1859 B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923 .;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN H 1890;1876;1897;1880;1859;1891;1860;1867;1881;1898;1877 ENSP00000407046:R1890H;ENSP00000387137:R1876H;ENSP00000386547:R1897H;ENSP00000398305:R1880H;ENSP00000258104:R1859H;ENSP00000386683:R1891H;ENSP00000377678:R1860H;ENSP00000386285:R1867H;ENSP00000386512:R1881H;ENSP00000386881:R1898H;ENSP00000386617:R1877H ENSP00000258104:R1859H R + 2 0 DYSF 71750293 1.000000 0.71417 0.990000 0.47175 0.912000 0.54170 9.492000 0.97957 2.698000 0.92095 0.655000 0.94253 CGT TCGA-HZ-A4BK-01A-11D-A26I-08 DYSF-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000251970.3 1 0 0 46 478 0 77 0 8.742329e-01 1 39 0 77 2 0 0 0 0 0 2 1 1.000000 46 473 0 76 2 -13.194030 1 1 121412 6 40 1 0 0 0 2.048971 0 0.320000 1.790000 0.311183 0.530000 0.400000 0.700000 0.540000 0.548989 0.530000 0 4.600000e-01 6.200000e-01 SEMA5B 54437 broad.mit.edu 37 3 122634365 122634365 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:122634365C>T ENST00000357599.3 - 14 2296 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q SEMA5B_ENST00000195173.4_Missense_Mutation_p.R637Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q NM_001031702.3|NM_001256348.1 NP_001026872.2|NP_001243277.1 Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 55 ATCACAGGATCGAGCTCGACA 0.607000 0 SO:0001583 missense ENST00000357599.3 1 1 hg19 CCDS35491.1 . . . . . . . . . . C 34 5.335933 0.95758 . . ENSG00000082684 ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583 T;T;T;T 0.25912 1.77;1.77;1.77;1.77 4.88 4.88 0.63580 . 0.000000 0.85682 D 0.000000 T 0.70307 0.3209 H 0.99074 4.42 0.58432 D 0.999999 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.999;0.999 D 0.84317 0.0514 10 0.87932 D 0 . 17.2003 0.86904 0.0:1.0:0.0:0.0 . 579;637;637 D3YTI7;B5ME80;Q9P283 .;.;SEM5B_HUMAN Q 637;637;579;691;637 ENSP00000350215:R637Q;ENSP00000195173:R637Q;ENSP00000389588:R691Q;ENSP00000377208:R637Q ENSP00000195173:R637Q R - 2 0 SEMA5B 124117055 1.000000 0.71417 1.000000 0.80357 0.824000 0.46624 7.596000 0.82721 2.520000 0.84964 0.561000 0.74099 CGA TCGA-HZ-A4BK-01A-11D-A26I-08 SEMA5B-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000277165.1 1 0 0 22 253 0 45 0 0 0 1 0 45 2 0 0 0 0 0 2 1 0.999999 22 251 0 45 2 -20.000000 1 1 121412 2 33 1 1 2 3 2.132008 0 0.320000 1.790000 0.331761 0.520000 0.330000 1.000000 0.510000 0.566514 0.520000 0 4.200000e-01 6.800000e-01 GNL3 26354 broad.mit.edu 37 3 52726994 52726994 + Missense_Mutation SNP G G T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:52726994G>T ENST00000418458.1 + 10 1149 c.976G>T c.(976-978)Gca>Tca p.A326S SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.A314S|GLT8D1_ENST00000463827.1_5'Flank NM_014366.4|NM_206826.1 NP_055181.3|NP_996562.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 12 GCGAAGTCCAGCAAGTATTGA 0.498000 0 SO:0001583 missense ENST00000418458.1 1 1 hg19 CCDS2861.1 . . . . . . . . . . G 15.53 2.861848 0.51482 . . ENSG00000163938 ENST00000418458;ENST00000394799 T;T 0.17528 2.27;2.27 5.91 3.9 0.45041 GTP-binding domain, HSR1-related (1); 0.620210 0.18874 N 0.128751 T 0.08670 0.0215 N 0.11201 0.11 0.36331 D 0.858845 B 0.15141 0.012 B 0.22152 0.038 T 0.11372 -1.0590 10 0.56958 D 0.05 . 4.4031 0.11397 0.3619:0.0:0.6381:0.0 . 326 Q9BVP2 GNL3_HUMAN S 326;314 ENSP00000395772:A326S;ENSP00000378278:A314S ENSP00000378278:A314S A + 1 0 GNL3 52702034 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 3.643000 0.54374 1.505000 0.48720 0.650000 0.86243 GCA TCGA-HZ-A4BK-01A-11D-A26I-08 GNL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352032.1 1 0 1 40 359 0 54 1 9.975776e-01 15 69 0 54 2 0 0 0 0 0 2 1 1.000000 40 358 0 54 2 -20.000000 1 1 0 0 1 0 0 0 1.778713 1 0.320000 1.790000 0.208566 0.530000 0.390000 0.700000 0.530000 0.543844 0.530000 0 4.500000e-01 6.200000e-01 GNL3 26354 broad.mit.edu 37 3 52726995 52726995 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:52726995C>T ENST00000418458.1 + 10 1150 c.977C>T c.(976-978)gCa>gTa p.A326V SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.A314V|GLT8D1_ENST00000463827.1_5'Flank NM_014366.4|NM_206826.1 NP_055181.3|NP_996562.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 12 CGAAGTCCAGCAAGTATTGAA 0.498000 0 SO:0001583 missense ENST00000418458.1 1 1 hg19 CCDS2861.1 . . . . . . . . . . C 14.80 2.644836 0.47258 . . ENSG00000163938 ENST00000418458;ENST00000394799 T;T 0.14022 2.54;2.55 5.91 4.12 0.48240 GTP-binding domain, HSR1-related (1); 0.620210 0.18874 N 0.128751 T 0.03827 0.0108 N 0.01473 -0.845 0.37907 D 0.931235 B 0.02656 0.0 B 0.06405 0.002 T 0.26503 -1.0101 10 0.02654 T 1 . 8.4252 0.32725 0.0:0.7647:0.0:0.2353 . 326 Q9BVP2 GNL3_HUMAN V 326;314 ENSP00000395772:A326V;ENSP00000378278:A314V ENSP00000378278:A314V A + 2 0 GNL3 52702035 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 1.211000 0.32382 1.509000 0.48786 0.650000 0.86243 GCA TCGA-HZ-A4BK-01A-11D-A26I-08 GNL3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352032.1 1 0 1 40 356 0 53 1 9.983339e-01 15 73 0 53 2 0 0 0 0 0 2 1 1.000000 40 355 0 53 2 -20.000000 1 1 0 0 1 0 0 0 1.778713 1 0.320000 1.790000 0.208566 0.530000 0.390000 0.700000 0.540000 0.547903 0.530000 0 4.600000e-01 6.300000e-01 MFAP3L 9848 broad.mit.edu 37 4 170926893 170926893 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:170926893C>T ENST00000361618.3 - 2 443 c.136G>A c.(136-138)Gtg>Atg p.V46M MFAP3L_ENST00000393702.3_Missense_Mutation_p.V46M|MFAP3L_ENST00000393704.3_5'Flank|MFAP3L_ENST00000506110.1_Missense_Mutation_p.V46M NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) ATTACGGGCACAGAGCCCAAG 0.458000 0 SO:0001583 missense ENST00000361618.3 1 1 hg19 CCDS34103.1 . . . . . . . . . . C 4.276 0.050406 0.08243 . . ENSG00000198948 ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306 D;D;D;D;D 0.96073 -1.78;-3.9;-3.9;-3.9;-3.9 5.18 1.49 0.22878 Immunoglobulin-like fold (1); 0.598203 0.18825 N 0.130155 D 0.91068 0.7189 L 0.43152 1.355 0.25324 N 0.989092 B 0.09022 0.002 B 0.08055 0.003 T 0.81221 -0.1031 10 0.32370 T 0.25 -0.0058 9.0328 0.36269 0.0:0.6194:0.0:0.3806 . 46 O75121 MFA3L_HUMAN M 46 ENSP00000354583:V46M;ENSP00000377305:V46M;ENSP00000422571:V46M;ENSP00000425303:V46M;ENSP00000426247:V46M ENSP00000354583:V46M V - 1 0 MFAP3L 171163468 0.074000 0.21230 0.741000 0.31004 0.040000 0.13550 0.703000 0.25646 0.292000 0.22492 -0.258000 0.10820 GTG TCGA-HZ-A4BK-01A-11D-A26I-08 MFAP3L-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363043.2 1 0 1 46 397 0 42 0 0 0 0 42 2 0 0 0 0 0 2 1 1.000000 46 394 0 42 2 -20.000000 1 1 0 0 1 0 1 1 1.954322 0 0.320000 1.790000 0.260870 0.590000 0.440000 0.760000 0.600000 0.603426 0.590000 0 5.100000e-01 6.800000e-01 ZNF141 7700 broad.mit.edu 37 4 367212 367212 + Missense_Mutation SNP A A G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:367212A>G ENST00000240499.7 + 4 1135 c.986A>G c.(985-987)cAt>cGt p.H329R ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 18 CTTACTAAACATAAGAGAATT 0.373000 0 SO:0001583 missense ENST00000240499.7 1 1 hg19 CCDS33931.1 . . . . . . . . . . A 20.2 3.945443 0.73672 . . ENSG00000131127 ENST00000240499 D 0.86865 -2.18 1.24 1.24 0.21308 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . D 0.94938 0.8363 H 0.98199 4.17 0.29054 N 0.884313 D 0.89917 1.0 D 0.97110 1.0 D 0.87220 0.2253 8 . . . . 6.1877 0.20506 1.0:0.0:0.0:0.0 . 329 Q15928 ZN141_HUMAN R 329 ENSP00000240499:H329R . H + 2 0 ZNF141 357212 0.991000 0.36638 0.777000 0.31699 0.982000 0.71751 6.242000 0.72376 0.495000 0.27882 0.260000 0.18958 CAT TCGA-HZ-A4BK-01A-11D-A26I-08 ZNF141-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000357710.1 1 0 1 40 358 0 43 0 8.621457e-02 0 5 0 43 2 0 0 0 0 0 2 1 1.000000 39 325 0 38 2 -20.000000 1 1 121394 2 33 1 0 1 1 1.958508 0 0.320000 1.790000 0.265976 0.570000 0.420000 0.760000 0.570000 0.589370 0.570000 0 4.900000e-01 6.700000e-01 PCDHB3 56132 broad.mit.edu 37 5 140482020 140482020 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:140482020C>T ENST00000231130.2 + 1 1787 c.1787C>T c.(1786-1788)tCg>tTg p.S596L AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGGCGACTCGGGCCAGAAC 0.716000 0 SO:0001583 missense ENST00000231130.2 1 1 hg19 CCDS4245.1 . . . . . . . . . . C 20.1 3.939596 0.73557 . . ENSG00000113205 ENST00000231130 T 0.49432 0.78 4.08 3.13 0.36017 Cadherin (4);Cadherin-like (1); . . . . T 0.68339 0.2990 M 0.82630 2.6 0.33058 D 0.533707 D 0.76494 0.999 D 0.66084 0.941 T 0.79077 -0.1951 9 0.87932 D 0 . 13.9076 0.63845 0.0:0.8468:0.1532:0.0 . 596 Q9Y5E6 PCDB3_HUMAN L 596 ENSP00000231130:S596L ENSP00000231130:S596L S + 2 0 PCDHB3 140462204 0.005000 0.15991 0.999000 0.59377 0.998000 0.95712 2.101000 0.41787 1.993000 0.58246 0.556000 0.70494 TCG TCGA-HZ-A4BK-01A-11D-A26I-08 PCDHB3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251817.2 0 0 0 42 529 0 124 0 0 0 0 124 2 0 0 0 0 0 2 1 0.996159 14 220 1 166 7 -9.916132 1 1 0 0 1 1 2 3 2.115615 0 0.320000 1.790000 0.328594 0.470000 0.340000 1.000000 0.460000 0.507214 0.470000 0 4.000000e-01 5.600000e-01 FAT2 2196 broad.mit.edu 37 5 150907687 150907687 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:150907687G>A ENST00000261800.5 - 15 10046 c.10034C>T c.(10033-10035)gCg>gTg p.A3345V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCATCAGTCGCTGATACCTG 0.532000 0 SO:0001583 missense ENST00000261800.5 1 1 hg19 CCDS4317.1 . . . . . . . . . . G 29.7 5.026947 0.93518 . . ENSG00000086570 ENST00000261800 T 0.59364 0.27 5.73 5.73 0.89815 Cadherin (4);Cadherin-like (1); 0.000000 0.64402 D 0.000004 T 0.77824 0.4188 M 0.76002 2.32 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;0.999 T 0.78917 -0.2015 10 0.72032 D 0.01 . 19.9191 0.97079 0.0:0.0:1.0:0.0 . 3345;536 Q9NYQ8;E9PDJ8 FAT2_HUMAN;. V 3345 ENSP00000261800:A3345V ENSP00000261800:A3345V A - 2 0 FAT2 150887880 1.000000 0.71417 0.917000 0.36280 0.778000 0.44026 9.067000 0.93955 2.707000 0.92482 0.643000 0.83706 GCG TCGA-HZ-A4BK-01A-11D-A26I-08 FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252434.1 1 0 1 92 420 0 87 0 0 0 1 0 87 2 0 0 0 0 0 2 1 1.000000 91 414 0 87 2 -3.283273 1 1 0 0 1 1 2 3 2.115615 0 0.320000 1.790000 0.328594 0.990000 0.930000 1.000000 1.000000 0.996110 0.990000 1 9.900000e-01 1 FLT4 2324 broad.mit.edu 37 5 180039570 180039570 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:180039570G>A ENST00000261937.6 - 26 3551 c.3473C>T c.(3472-3474)gCg>gTg p.A1158V FLT4_ENST00000502649.1_Missense_Mutation_p.A1158V|FLT4_ENST00000393347.3_Missense_Mutation_p.A1158V NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 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) Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) TGCAGGTCTCGCCTTGGGGTC 0.642000 Colon(97;1075 1466 27033 27547 35871) 0 SO:0001583 missense ENST00000261937.6 1 1 hg19 CCDS4457.1 . . . . . . . . . . g 15.17 2.754723 0.49362 . . ENSG00000037280 ENST00000261937;ENST00000393347;ENST00000502649 D;D;D 0.83075 -1.68;-1.68;-1.68 3.57 1.45 0.22620 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); . . . . T 0.70701 0.3254 N 0.16862 0.45 0.33893 D 0.637638 B;B 0.32203 0.36;0.36 B;B 0.34824 0.19;0.19 T 0.74365 -0.3689 9 0.56958 D 0.05 . 10.3063 0.43683 0.0:0.0:0.301:0.699 . 1158;1158 E9PD35;P35916 .;VGFR3_HUMAN V 1158 ENSP00000261937:A1158V;ENSP00000377016:A1158V;ENSP00000426057:A1158V ENSP00000261937:A1158V A - 2 0 FLT4 179972176 0.999000 0.42202 0.974000 0.42286 0.708000 0.40852 2.991000 0.49409 0.774000 0.33427 0.457000 0.33378 GCG TCGA-HZ-A4BK-01A-11D-A26I-08 FLT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253527.4 1 0 1 100 448 0 106 0 9.008794e-01 0 20 0 106 2 0 0 0 1 0 0 2 1 1.000000 100 442 0 105 2 -3.394788 1 1 0 0 1 1 2 3 2.115615 0 0.320000 1.790000 0.328594 0.990000 0.950000 1.000000 1.000000 0.997682 0.990000 1 9.900000e-01 1 TARS 6897 broad.mit.edu 37 5 33455699 33455699 + Missense_Mutation SNP T T C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:33455699T>C ENST00000265112.3 + 6 894 c.583T>C c.(583-585)Tct>Cct p.S195P TARS_ENST00000414361.2_Missense_Mutation_p.S74P|TARS_ENST00000502553.1_Missense_Mutation_p.S195P|TARS_ENST00000541634.1_Missense_Mutation_p.S91P|TARS_ENST00000455217.2_Missense_Mutation_p.S228P NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 29 L-Threonine(DB00156) CAGGGGTGTGTCTAGCAATGA 0.348000 0 SO:0001583 missense ENST00000265112.3 1 1 hg19 CCDS3899.1 . . . . . . . . . . T 16.49 3.139242 0.56936 . . ENSG00000113407 ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361 T;T;T;T;T 0.08896 3.04;3.04;3.04;3.04;3.04 5.45 5.45 0.79879 Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1); 0.000000 0.85682 D 0.000000 T 0.35508 0.0934 M 0.90145 3.09 0.80722 D 1 B;D;D;D 0.76494 0.058;0.999;0.993;0.999 B;D;D;D 0.68943 0.035;0.961;0.956;0.944 T 0.39881 -0.9592 10 0.62326 D 0.03 -26.5112 15.5522 0.76161 0.0:0.0:0.0:1.0 . 74;228;91;195 E7ERI3;B4DEG8;G3XAN9;P26639 .;.;.;SYTC_HUMAN P 195;195;91;228;74 ENSP00000424387:S195P;ENSP00000265112:S195P;ENSP00000438469:S91P;ENSP00000387710:S228P;ENSP00000394291:S74P ENSP00000265112:S195P S + 1 0 TARS 33491456 1.000000 0.71417 1.000000 0.80357 0.692000 0.40212 8.040000 0.89188 2.084000 0.62774 0.392000 0.25879 TCT TCGA-HZ-A4BK-01A-11D-A26I-08 TARS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207367.1 1 0 1 56 244 0 13 1 9.999815e-01 28 45 0 13 2 0 0 0 0 0 2 1 1.000000 55 243 0 13 2 -20.000000 1 1 0 0 1 0 1 1 1.959612 0 0.320000 1.790000 0.280880 0.990000 0.850000 1.000000 1.000000 0.985288 0.990000 1 9.600000e-01 1 ADAMTS12 81792 broad.mit.edu 37 5 33549440 33549440 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:33549440C>T ENST00000504830.1 - 21 4509 c.4174G>A c.(4174-4176)Gtg>Atg p.V1392M ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1307M NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 216 CGGCTGTCCACGCACTGAATC 0.562000 HNSCC(64;0.19) 0 SO:0001583 missense ENST00000504830.1 1 1 hg19 CCDS34140.1 . . . . . . . . . . C 12.76 2.033374 0.35893 . . ENSG00000151388 ENST00000504830;ENST00000352040 T;T 0.62232 0.04;0.04 5.16 1.05 0.20165 . 0.339195 0.30483 N 0.009529 T 0.45377 0.1339 L 0.42529 1.33 0.80722 D 1 B;B 0.29716 0.255;0.194 B;B 0.22601 0.024;0.04 T 0.20472 -1.0274 10 0.51188 T 0.08 . 4.7832 0.13213 0.0:0.4534:0.2926:0.254 . 1307;1392 P58397-3;P58397 .;ATS12_HUMAN M 1392;1307 ENSP00000422554:V1392M;ENSP00000344847:V1307M ENSP00000344847:V1307M V - 1 0 ADAMTS12 33585197 0.799000 0.28903 0.986000 0.45419 0.987000 0.75469 -0.063000 0.11655 -0.105000 0.12132 -0.312000 0.09012 GTG TCGA-HZ-A4BK-01A-11D-A26I-08 ADAMTS12-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367164.2 1 0 0 47 494 0 112 0 4.476366e-01 0 17 0 112 2 0 0 0 0 0 2 1 1.000000 50 489 0 110 2 -13.145400 1 1 121412 1 31 1 0 1 1 1.959612 0 0.320000 1.790000 0.280880 0.510000 0.380000 0.660000 0.510000 0.519964 0.510000 0 4.400000e-01 5.900000e-01 PACSIN1 29993 broad.mit.edu 37 6 34498289 34498289 + Missense_Mutation SNP A A C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:34498289A>C ENST00000538621.1 + 8 1207 c.962A>C c.(961-963)aAg>aCg p.K321T PACSIN1_ENST00000244458.2_Missense_Mutation_p.K321T|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K279T NM_001199583.2 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 13 AAACAGCCTAAGAAGGCAGAG 0.632000 0 SO:0001583 missense ENST00000538621.1 1 1 hg19 CCDS4793.1 . . . . . . . . . . A 14.77 2.635770 0.47049 . . ENSG00000124507 ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621 T;T;T 0.24538 1.85;1.85;1.85 4.43 4.43 0.53597 . 0.208574 0.48286 D 0.000188 T 0.25717 0.0626 M 0.72118 2.19 0.58432 D 0.999999 D 0.63880 0.993 P 0.53266 0.722 T 0.05835 -1.0861 10 0.18710 T 0.47 -17.1727 13.5105 0.61508 1.0:0.0:0.0:0.0 . 321 Q9BY11 PACN1_HUMAN T 321;279;321;321 ENSP00000244458:K321T;ENSP00000363155:K279T;ENSP00000439639:K321T ENSP00000244458:K321T K + 2 0 PACSIN1 34606267 1.000000 0.71417 1.000000 0.80357 0.804000 0.45430 3.935000 0.56560 1.875000 0.54330 0.374000 0.22700 AAG TCGA-HZ-A4BK-01A-11D-A26I-08 PACSIN1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040236.1 1 0 0 8 115 0 27 0 5.714286e-03 0 2 0 27 2 0 0 0 0 0 2 1 0.989806 8 114 0 27 2 -12.463340 1 1 0 0 1 0 0 0 1.781395 1 0.320000 1.790000 0.208566 0.350000 0.170000 0.620000 0.340000 0.374805 0.350000 0 2.500000e-01 4.900000e-01 ASB15 142685 broad.mit.edu 37 7 123254593 123254593 + Missense_Mutation SNP A A G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:123254593A>G ENST00000451558.1 + 6 558 c.37A>G c.(37-39)Aca>Gca p.T13A RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T13A|ASB15_ENST00000451215.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T13A|ASB15_ENST00000540573.1_Missense_Mutation_p.T13A Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 12 AGACCATCTTACAAGTTATGA 0.363000 0 SO:0001583 missense ENST00000451558.1 1 1 hg19 CCDS34742.1 . . . . . . . . . . A 13.89 2.373191 0.42105 . . ENSG00000146809 ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699 T;T;T;T;T;T;T 0.68903 -0.3;-0.3;0.83;-0.3;-0.3;-0.36;-0.3 6.04 1.13 0.20643 . 0.270670 0.31221 N 0.008021 T 0.42899 0.1223 N 0.24115 0.695 0.28159 N 0.929077 B 0.09022 0.002 B 0.06405 0.002 T 0.32534 -0.9903 10 0.02654 T 1 -39.6481 9.3766 0.38286 0.7265:0.0:0.2735:0.0 . 13 Q8WXK1 ASB15_HUMAN A 13 ENSP00000397655:T13A;ENSP00000390963:T13A;ENSP00000406163:T13A;ENSP00000416433:T13A;ENSP00000438643:T13A;ENSP00000401166:T13A;ENSP00000275699:T13A ENSP00000275699:T13A T + 1 0 ASB15 123041829 1.000000 0.71417 0.996000 0.52242 0.990000 0.78478 2.916000 0.48813 -0.029000 0.13827 0.460000 0.39030 ACA TCGA-HZ-A4BK-01A-11D-A26I-08 ASB15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347493.1 1 0 0 83 868 0 133 0 0 0 0 133 2 0 0 0 0 0 2 1 1.000000 83 859 0 133 2 -20.000000 1 1 0 0 1 0 1 1 1.949217 0 0.320000 1.790000 0.269759 0.500000 0.400000 0.610000 0.500000 0.511531 0.500000 0 4.500000e-01 5.600000e-01 REPIN1 29803 broad.mit.edu 37 7 150069256 150069256 + Missense_Mutation SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:150069256C>G ENST00000425389.2 + 1 1004 c.926C>G c.(925-927)tCt>tGt p.S309C REPIN1_ENST00000397281.2_Missense_Mutation_p.S309C|REPIN1_ENST00000489432.2_Missense_Mutation_p.S366C|REPIN1_ENST00000444957.1_Missense_Mutation_p.S309C|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.S309C|REPIN1_ENST00000479668.1_3'UTR NM_014374.3 NP_055189.2 Q9BWE0 REPI1_HUMAN replication initiator 1 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AACCTGCTGTCTCACAGCAAG 0.701000 0 SO:0001583 missense ENST00000425389.2 0 1 hg19 CCDS43677.1 . . . . . . . . . . C 14.15 2.450922 0.43531 . . ENSG00000214022 ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000488943;ENST00000425389 T;T;T;T;T;T 0.61158 0.13;0.13;0.13;0.13;0.13;0.13 4.91 4.91 0.64330 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.55049 0.1896 N 0.08118 0 0.22354 N 0.99917 P;D 0.76494 0.553;0.999 B;D 0.69142 0.062;0.962 T 0.49062 -0.8978 9 0.52906 T 0.07 -6.4308 10.6565 0.45678 0.1909:0.8091:0.0:0.0 . 366;309 C9J3L7;Q9BWE0 .;REPI1_HUMAN C 309;309;309;366;369;309 ENSP00000445016:S309C;ENSP00000380451:S309C;ENSP00000407714:S309C;ENSP00000417291:S366C;ENSP00000419872:S369C;ENSP00000388287:S309C ENSP00000380451:S309C S + 2 0 REPIN1 149700189 0.000000 0.05858 0.995000 0.50966 0.986000 0.74619 -0.090000 0.11163 2.550000 0.86006 0.462000 0.41574 TCT TCGA-HZ-A4BK-01A-11D-A26I-08 REPIN1-018 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000376940.1 0 0 0 11 72 0 19 1 9.827401e-01 5 44 0 19 2 0 0 0 0 0 2 1 0.998720 11 72 0 19 2 -19.242480 1 1 0 0 1 0 1 1 1.995005 0 0.320000 1.790000 0.284512 0.790000 0.430000 1.000000 1.000000 0.787109 0.790000 0 5.900000e-01 1 POM121L12 285877 broad.mit.edu 37 7 53103801 53103801 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:53103801G>A ENST00000408890.4 + 1 453 c.437G>A c.(436-438)cGt>cAt p.R146H NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 p.R146H(1) 61 CCCCCTGAGCGTCAGGAGAGC 0.711000 1 Substitution - Missense(1) SO:0001583 missense ENST00000408890.4 1 1 hg19 CCDS43584.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 6.394 0.440778 0.12104 . . ENSG00000221900 ENST00000408890 T 0.24723 1.84 1.37 -1.98 0.07480 . . . . . T 0.17408 0.0418 L 0.43923 1.385 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.26815 -1.0092 9 0.30078 T 0.28 . 5.2756 0.15647 0.5589:0.0:0.4411:0.0 . 146 Q8N7R1 P1L12_HUMAN H 146 ENSP00000386133:R146H ENSP00000386133:R146H R + 2 0 POM121L12 53071295 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.211000 0.02997 -0.736000 0.04831 -2.126000 0.00345 CGT TCGA-HZ-A4BK-01A-11D-A26I-08 POM121L12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000342656.1 1 0 0 32 180 0 30 0 0 0 0 30 2 0 0 0 0 0 2 1 1.000000 32 178 0 30 2 -20.000000 1 1 120650 5 32 1 0 1 1 1.949217 0 0.320000 1.790000 0.269759 0.870000 0.620000 1.000000 1.000000 0.867961 0.870000 1 7.300000e-01 1 CSMD3 114788 broad.mit.edu 37 8 113697836 113697836 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:113697836G>A ENST00000297405.5 - 15 2525 c.2281C>T c.(2281-2283)Ctt>Ttt p.L761F CSMD3_ENST00000352409.3_Missense_Mutation_p.L761F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 p.L721V(2)|p.L761V(2) 646 TTGAAAGAAAGATGTATCCGG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 Substitution - Missense(4) SO:0001583 missense ENST00000297405.5 1 1 hg19 CCDS6315.1 . . . . . . . . . . G 19.95 3.921663 0.73213 . . ENSG00000164796 ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409 T;T;T;T;T 0.33865 1.39;1.39;1.39;1.39;1.39 5.96 5.09 0.68999 CUB (5); 0.000000 0.64402 D 0.000009 T 0.64670 0.2619 M 0.86420 2.815 0.34498 D 0.705682 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.97110 0.998;0.999;1.0 T 0.77381 -0.2609 10 0.40728 T 0.16 . 15.1353 0.72558 0.0675:0.0:0.9325:0.0 . 657;761;721 Q7Z407-3;Q7Z407;Q7Z407-2 .;CSMD3_HUMAN;. F 721;761;101;657;761 ENSP00000345799:L721F;ENSP00000297405:L761F;ENSP00000341558:L101F;ENSP00000412263:L657F;ENSP00000343124:L761F ENSP00000297405:L761F L - 1 0 CSMD3 113767012 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.552000 0.73914 1.535000 0.49220 0.655000 0.94253 CTT TCGA-HZ-A4BK-01A-11D-A26I-08 CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347141.1 1 0 0 42 517 0 73 0 0 0 0 73 2 0 0 0 0 0 2 1 1.000000 41 515 0 73 2 -10.475410 1 1 0 0 1 0 1 1 1.950419 0 0.320000 1.790000 0.273504 0.430000 0.320000 0.570000 0.440000 0.446266 0.430000 0 3.700000e-01 5.100000e-01 SLCO5A1 81796 broad.mit.edu 37 8 70617453 70617453 + Missense_Mutation SNP C C T rs141622109 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:70617453C>T ENST00000260126.4 - 6 2141 c.1435G>A c.(1435-1437)Gtc>Atc p.V479I SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V479I|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V424I NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCACTGGGGACGATAATAACC 0.413000 0 SO:0001583 missense ENST00000260126.4 1 1 hg19 CCDS6205.1 . . . . . . . . . . C 13.53 2.265449 0.40095 0.0 1.16E-4 ENSG00000137571 ENST00000260126;ENST00000524945;ENST00000530307 T;T;T 0.39787 1.06;1.06;1.06 5.55 5.55 0.83447 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.000000 0.85682 D 0.000000 T 0.46464 0.1394 N 0.17474 0.49 0.44221 D 0.997051 D;D;P;P 0.89917 1.0;0.961;0.798;0.871 D;P;B;B 0.83275 0.996;0.621;0.261;0.144 T 0.16689 -1.0394 10 0.05436 T 0.98 . 19.8764 0.96873 0.0:1.0:0.0:0.0 . 424;424;479;479 B4DR09;E9PKK5;Q9H2Y9;G3V1C0 .;.;SO5A1_HUMAN;. I 479;479;424 ENSP00000260126:V479I;ENSP00000434422:V479I;ENSP00000431611:V424I ENSP00000260126:V479I V - 1 0 SLCO5A1 70780007 1.000000 0.71417 1.000000 0.80357 0.825000 0.46686 7.748000 0.85085 2.768000 0.95171 0.655000 0.94253 GTC TCGA-HZ-A4BK-01A-11D-A26I-08 SLCO5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381990.3 1 0 1 35 253 0 34 0 0 0 0 34 2 0 0 0 0 0 2 1 1.000000 35 251 0 34 2 -20.000000 1 1 121412 2 34 1 0 1 1 1.950419 0 0.320000 1.790000 0.273504 0.700000 0.500000 0.930000 0.710000 0.719057 0.700000 0 6.000000e-01 8.300000e-01 KCNB2 9312 broad.mit.edu 37 8 73480175 73480175 + Missense_Mutation SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:73480175C>A ENST00000523207.1 + 2 794 c.206C>A c.(205-207)aCa>aAa p.T69K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 85 Breast(64;0.137) Epithelial(68;0.105) Dalfampridine(DB06637) GACTGCAACACACACGAGAGC 0.522000 0 SO:0001583 missense ENST00000523207.1 1 1 hg19 CCDS6209.1 . . . . . . . . . . C 24.7 4.562910 0.86335 . . ENSG00000182674 ENST00000523207 D 0.97041 -4.22 5.71 3.79 0.43588 BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1); 0.470461 0.15701 U 0.248917 D 0.97235 0.9096 L 0.43598 1.365 0.47905 D 0.999541 P 0.47677 0.899 P 0.60012 0.867 D 0.97404 0.9998 10 0.87932 D 0 . 15.8203 0.78633 0.0:0.7433:0.2567:0.0 . 69 Q92953 KCNB2_HUMAN K 69 ENSP00000430846:T69K ENSP00000430846:T69K T + 2 0 KCNB2 73642729 0.998000 0.40836 0.971000 0.41717 0.997000 0.91878 3.977000 0.56874 1.404000 0.46819 0.655000 0.94253 ACA TCGA-HZ-A4BK-01A-11D-A26I-08 KCNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378998.1 1 0 0 45 438 0 79 0 0 0 0 79 2 0 0 0 0 0 2 1 1.000000 44 433 0 78 2 -20.000000 1 1 0 0 1 0 1 1 1.950419 0 0.320000 1.790000 0.273504 0.540000 0.400000 0.700000 0.540000 0.551796 0.540000 0 4.600000e-01 6.300000e-01 SVEP1 79987 broad.mit.edu 37 9 113261346 113261346 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:113261346G>A ENST00000401783.2 - 7 1992 c.1656C>T c.(1654-1656)gtC>gtT p.V552V SVEP1_ENST00000302728.8_Silent_p.V552V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.V529V|SVEP1_ENST00000374461.1_Silent_p.V529V NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 147 CCTGAACTCCGACATTCCATT 0.413000 0 SO:0001819 synonymous_variant ENST00000401783.2 0 1 hg19 CCDS48004.1 TCGA-HZ-A4BK-01A-11D-A26I-08 SVEP1-202 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 1 0 0 17 154 0 24 0 0 0 1 0 24 2 0 0 0 0 0 2 1 0.999969 17 151 0 24 2 -3.142743 1 1 120904 13 40 1 0 1 1 1.903436 0 0.320000 1.790000 0.255692 0.560000 0.340000 0.840000 0.550000 0.583911 0.560000 0 4.400000e-01 7.100000e-01 FRMPD1 22844 broad.mit.edu 37 9 37746200 37746200 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:37746200G>A ENST00000539465.1 + 16 4764 c.4171G>A c.(4171-4173)Gca>Aca p.A1391T FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 p.A1391T(1) 93 CTGCACCACCGCACCCCTGTC 0.662000 1 Substitution - Missense(1) SO:0001583 missense ENST00000539465.1 1 1 hg19 CCDS6612.1 . . . . . . . . . . G 1.279 -0.610757 0.03690 . . ENSG00000070601 ENST00000377765;ENST00000539465 T;T 0.06608 3.28;3.28 5.3 4.39 0.52855 . 1.000500 0.08067 N 0.999257 T 0.03305 0.0096 N 0.08118 0 0.19575 N 0.999967 B 0.27679 0.185 B 0.17722 0.019 T 0.35375 -0.9791 10 0.17832 T 0.49 -1.3239 6.7298 0.23377 0.0936:0.1812:0.7251:0.0 . 1391 Q5SYB0 FRPD1_HUMAN T 1391 ENSP00000366995:A1391T;ENSP00000444411:A1391T ENSP00000366995:A1391T A + 1 0 FRMPD1 37736200 0.008000 0.16893 0.010000 0.14722 0.003000 0.03518 1.688000 0.37690 2.475000 0.83589 0.655000 0.94253 GCA TCGA-HZ-A4BK-01A-11D-A26I-08 FRMPD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402969.1 0 0 0 20 355 0 66 0 0 0 0 66 2 0 0 0 0 0 2 1 0.999995 20 350 0 66 2 -2.967652 1 1 121398 2 34 1 0 1 1 1.903436 0 0.320000 1.790000 0.255692 0.300000 0.190000 0.450000 0.300000 0.315602 0.300000 0 2.400000e-01 3.800000e-01 FGD3 89846 broad.mit.edu 37 9 95773521 95773521 + Silent SNP C C T rs140324424 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:95773521C>T ENST00000375482.3 + 8 1498 c.1002C>T c.(1000-1002)gcC>gcT p.A334A FGD3_ENST00000416701.2_Silent_p.A334A|FGD3_ENST00000337352.6_Silent_p.A334A NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 p.A334A(2) 17 TCTCCACAGCCGCCAACCACT 0.632000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000375482.3 1 1 hg19 CCDS43849.1 TCGA-HZ-A4BK-01A-11D-A26I-08 FGD3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055493.1 1 0 0 29 445 0 86 0 7.386623e-01 0 42 0 86 2 0 0 0 0 0 2 1 1.000000 28 441 0 85 2 -2.879450 1 1 121078 29 47 1 0 1 1 1.903436 0 0.320000 1.790000 0.255692 0.340000 0.230000 0.480000 0.350000 0.357669 0.340000 0 2.800000e-01 4.200000e-01 ZIC3 7547 broad.mit.edu 37 X 136649486 136649486 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:136649486C>T ENST00000287538.5 + 1 1186 c.636C>T c.(634-636)gcC>gcT p.A212A RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Silent_p.A212A NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 37 Acute lymphoblastic leukemia(192;0.000127) CCTACGCGGCCGGCGCTCAGT 0.662000 0 SO:0001819 synonymous_variant ENST00000287538.5 1 1 hg19 CCDS14663.1 TCGA-HZ-A4BK-01A-11D-A26I-08 ZIC3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058526.1 1 0 0 22 200 0 36 0 0 0 0 36 2 0 0 0 0 0 2 1 0.999999 22 199 0 36 2 -3.221898 1 1 0 0 1 0 1 1 0.320000 1.790000 0.320000 0.300000 0.200000 0.440000 0.310000 0.317809 0.300000 0 2.500000e-01 3.800000e-01 GPM6B 2824 broad.mit.edu 37 X 13803924 13803924 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:13803924C>T ENST00000356942.5 - 2 506 c.65G>A c.(64-66)tGc>tAc p.C22Y GPM6B_ENST00000454189.2_Missense_Mutation_p.C3Y|GPM6B_ENST00000493677.1_Missense_Mutation_p.C36Y|GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000355135.2_Missense_Mutation_p.C62Y|GPM6B_ENST00000316715.4_Missense_Mutation_p.C62Y NM_005278.3 NP_005269.1 Q13491 GPM6B_HUMAN glycoprotein M6B 6 GCATTCAAAGCAGCCTGAACC 0.527000 0 SO:0001583 missense ENST00000356942.5 1 1 hg19 CCDS14158.1 . . . . . . . . . . C 23.6 4.434116 0.83776 . . ENSG00000046653 ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307 D;D;D;D;D;D 0.99245 -5.62;-5.62;-5.62;-5.62;-5.62;-5.62 5.65 5.65 0.86999 . 0.000000 0.85682 D 0.000000 D 0.99450 0.9805 M 0.82823 2.61 0.80722 D 1 D;D;D;D;D;D 0.89917 1.0;1.0;1.0;1.0;1.0;1.0 D;D;D;D;D;D 0.97110 1.0;1.0;1.0;1.0;1.0;0.999 D 0.98897 1.0775 10 0.87932 D 0 -0.0619 18.8027 0.92025 0.0:1.0:0.0:0.0 . 36;3;22;62;14;62 B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956 .;.;GPM6B_HUMAN;.;.;. Y 62;3;36;62;22;22 ENSP00000316861:C62Y;ENSP00000389915:C3Y;ENSP00000419904:C36Y;ENSP00000347258:C62Y;ENSP00000349420:C22Y;ENSP00000418594:C22Y ENSP00000316861:C62Y C - 2 0 GPM6B 13713845 1.000000 0.71417 1.000000 0.80357 0.866000 0.49608 7.350000 0.79385 2.387000 0.81309 0.600000 0.82982 TGC TCGA-HZ-A4BK-01A-11D-A26I-08 GPM6B-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055822.1 1 0 0 19 133 0 30 0 1.759531e-02 0 2 0 30 2 0 0 0 0 0 2 1 0.999992 19 130 0 30 2 -20.000000 1 1 0 0 1 0 1 1 0.320000 1.790000 0.320000 0.380000 0.240000 0.560000 0.390000 0.400205 0.380000 0 3.100000e-01 4.800000e-01 SRPK3 26576 broad.mit.edu 37 X 153048258 153048258 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:153048258C>T ENST00000370101.3 + 6 553 c.507C>T c.(505-507)caC>caT p.H169H SRPK3_ENST00000370104.1_Silent_p.H169H|SRPK3_ENST00000370108.3_Silent_p.H169H|SRPK3_ENST00000393786.3_Silent_p.H169H|SRPK3_ENST00000489426.1_Silent_p.H236H|SRPK3_ENST00000370100.1_Silent_p.H127H NM_001170760.1|NM_014370.3 NP_001164231.1|NP_055185.2 Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TGCTGGGCCACCAGCTCCTCA 0.652000 Esophageal Squamous(167;766 3400 32156) 0 SO:0001819 synonymous_variant ENST00000370101.3 0 1 hg19 CCDS35441.1 . . . . . . . . . . C 4.748 0.139064 0.09083 . . ENSG00000184343 ENST00000430541 . . . 5.77 0.999 0.19862 . . . . . T 0.55752 0.1940 . . . 0.80722 D 1 . . . . . . T 0.46233 -0.9206 4 . . . -36.8803 8.7166 0.34414 0.0:0.4138:0.0:0.5862 . . . . I 183 . . T + 2 0 SRPK3 152701452 0.863000 0.29885 0.998000 0.56505 0.360000 0.29518 -0.028000 0.12350 0.040000 0.15660 -0.192000 0.12808 ACC TCGA-HZ-A4BK-01A-11D-A26I-08 SRPK3-006 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000354501.1 1 0 1 19 116 0 18 0 2.221517e-02 0 2 0 18 2 0 0 0 0 0 2 1 0.999994 19 115 0 18 2 -20.000000 1 1 0 0 1 0 1 1 0.320000 1.790000 0.320000 0.430000 0.270000 0.630000 0.430000 0.449075 0.430000 0 3.500000e-01 5.400000e-01 DHRSX 207063 broad.mit.edu 37 X 2161133 2161133 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:2161133C>T ENST00000334651.5 - 6 787 c.735G>A c.(733-735)acG>acA p.T245T NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGTAGACGTCCGTGTTGACCA 0.617000 0 SO:0001819 synonymous_variant ENST00000334651.5 1 1 hg19 CCDS35195.1 TCGA-HZ-A4BK-01A-11D-A26I-08 DHRSX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055617.3 1 0 1 22 309 0 81 1 9.987984e-01 21 130 0 81 2 0 0 0 0 0 2 1 0.999999 22 301 0 80 2 -2.578491 1 1 0 0 1 0 1 1 0.320000 1.790000 0.320000 0.200000 0.130000 0.300000 0.210000 0.214454 0.200000 0 1.600000e-01 2.600000e-01 STS 412 broad.mit.edu 37 X 7223159 7223159 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:7223159G>A ENST00000217961.4 + 7 1251 c.1031G>A c.(1030-1032)gGa>gAa p.G344E NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Norelgestromin(DB06713) TCGGACCAGGGAGCACATGTA 0.458000 Ichthyosis 0 SO:0001583 missense Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris ENST00000217961.4 1 1 hg19 CCDS14127.1 . . . . . . . . . . G 13.21 2.167811 0.38315 . . ENSG00000101846 ENST00000217961 D 0.99811 -6.87 3.7 3.7 0.42460 Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1); 0.000000 0.85682 D 0.000000 D 0.99885 0.9945 H 0.99825 4.815 0.43107 D 0.994805 D 0.89917 1.0 D 0.97110 1.0 D 0.96487 0.9361 10 0.87932 D 0 . 10.6511 0.45649 0.0:0.0:1.0:0.0 . 344 P08842 STS_HUMAN E 344 ENSP00000217961:G344E ENSP00000217961:G344E G + 2 0 STS 7233159 1.000000 0.71417 0.030000 0.17652 0.085000 0.17905 5.739000 0.68622 1.615000 0.50252 0.600000 0.82982 GGA TCGA-HZ-A4BK-01A-11D-A26I-08 STS-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055686.1 1 0 0 27 273 0 30 0 5.017237e-01 1 17 0 30 2 0 0 0 0 0 2 1 1.000000 27 272 0 30 2 -9.894793 1 1 0 0 1 0 1 1 0.320000 1.790000 0.320000 0.270000 0.180000 0.390000 0.280000 0.287685 0.270000 0 2.300000e-01 3.400000e-01